Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Thyrotropin receptor (Thyroid-stimulating hormone receptor) (TSH-R)

 TSHR_HUMAN              Reviewed;         764 AA.
P16473; A0PJU7; F5GYU5; G3V2A9; Q16503; Q8TB90; Q96GT6; Q9P1V4;
Q9ULA3; Q9UPH3;
01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
29-MAR-2005, sequence version 2.
25-APR-2018, entry version 217.
RecName: Full=Thyrotropin receptor;
AltName: Full=Thyroid-stimulating hormone receptor;
Short=TSH-R;
Flags: Precursor;
Name=TSHR; Synonyms=LGR3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
PubMed=2558651; DOI=10.1016/0006-291X(89)92727-7;
Nagayama Y., Kaufman K.D., Seto P., Rapoport B.;
"Molecular cloning, sequence and functional expression of the cDNA for
the human thyrotropin receptor.";
Biochem. Biophys. Res. Commun. 165:1184-1190(1989).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), AND TISSUE SPECIFICITY.
TISSUE=Thyroid;
PubMed=2610690; DOI=10.1016/0006-291X(89)92736-8;
Libert F., Lefort A., Gerard C., Parmentier M., Perret J., Ludgate M.,
Dumont J.E., Vassart G.;
"Cloning, sequencing and expression of the human thyrotropin (TSH)
receptor: evidence for binding of autoantibodies.";
Biochem. Biophys. Res. Commun. 165:1250-1255(1989).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), AND VARIANT GLU-727.
PubMed=2302212; DOI=10.1016/0006-291X(90)91958-U;
Misrahi M., Loosfelt H., Atger M., Sar S., Guiochon-Mantel A.,
Milgrom E.;
"Cloning, sequencing and expression of human TSH receptor.";
Biochem. Biophys. Res. Commun. 166:394-403(1990).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
TISSUE=Thyroid;
PubMed=2293030; DOI=10.1210/mend-4-8-1264;
Frazier A.L., Robbins L.S., Stork P.J., Sprengel R., Segaloff D.L.,
Cone R.D.;
"Isolation of TSH and LH/CG receptor cDNAs from human thyroid:
regulation by tissue specific splicing.";
Mol. Endocrinol. 4:1264-1276(1990).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
PubMed=1530609; DOI=10.1016/0006-291X(92)91315-H;
Graves P.N., Tomer Y., Davies T.F.;
"Cloning and sequencing of a 1.3 KB variant of human thyrotropin
receptor mRNA lacking the transmembrane domain.";
Biochem. Biophys. Res. Commun. 187:1135-1143(1992).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
TISSUE=Thyroid;
PubMed=1445355; DOI=10.1016/0006-291X(92)91360-3;
Takeshita A., Nagayama Y., Fujiyama K., Yokoyama N., Namba H.,
Yamashita S., Izumi M., Nagataki S.;
"Molecular cloning and sequencing of an alternatively spliced form of
the human thyrotropin receptor transcript.";
Biochem. Biophys. Res. Commun. 188:1214-1219(1992).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
TISSUE=Thyroid;
Kopatz S.A., Aronstam R.S., Sharma S.V.;
"cDNA clones of human proteins involved in signal transduction
sequenced by the Guthrie cDNA resource center (www.cdna.org).";
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLU-727.
PubMed=12508121; DOI=10.1038/nature01348;
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
Quetier F., Waterston R., Hood L., Weissenbach J.;
"The DNA sequence and analysis of human chromosome 14.";
Nature 421:601-607(2003).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SHORT AND 3).
TISSUE=Ovarian adenocarcinoma;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
PROTEIN SEQUENCE OF 66-80; 113-123; 184-210 AND 294-310, AND
GLYCOSYLATION AT ASN-77; ASN-113; ASN-198 AND ASN-302.
PubMed=11502179; DOI=10.1021/bi0107389;
Cornelis S., Uttenweiler-Joseph S., Panneels V., Vassart G.,
Costagliola S.;
"Purification and characterization of a soluble bioactive amino-
terminal extracellular domain of the human thyrotropin receptor.";
Biochemistry 40:9860-9869(2001).
[11]
FUNCTION, GLYCOSYLATION, SUBCELLULAR LOCATION, SULFATION AT TYR-385,
TISSUE SPECIFICITY, AND MUTAGENESIS OF CYS-283; TYR-385 AND TYR-387.
PubMed=11847099; DOI=10.1093/emboj/21.4.504;
Costagliola S., Panneels V., Bonomi M., Koch J., Many M.C., Smits G.,
Vassart G.;
"Tyrosine sulfation is required for agonist recognition by
glycoprotein hormone receptors.";
EMBO J. 21:504-513(2002).
[12]
FUNCTION, AND INTERACTION WITH HETERODIMER GPHA2-GPHB5.
PubMed=12045258; DOI=10.1172/JCI0214340;
Nakabayashi K., Matsumi H., Bhalla A., Bae J., Mosselman S., Hsu S.Y.,
Hsueh A.J.W.;
"Thyrostimulin, a heterodimer of two new human glycoprotein hormone
subunits, activates the thyroid-stimulating hormone receptor.";
J. Clin. Invest. 109:1445-1452(2002).
[13]
INTERACTION WITH SCRIB.
PubMed=15775968; DOI=10.1038/sj.emboj.7600616;
Lahuna O., Quellari M., Achard C., Nola S., Meduri G., Navarro C.,
Vitale N., Borg J.-P., Misrahi M.;
"Thyrotropin receptor trafficking relies on the hScrib-betaPIX-GIT1-
ARF6 pathway.";
EMBO J. 24:1364-1374(2005).
[14]
3D-STRUCTURE MODELING OF 54-236.
PubMed=8747461; DOI=10.1016/S0969-2126(01)00272-6;
Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H.,
Hendrickson W.A., el Tayar N.;
"Structural predictions for the ligand-binding region of glycoprotein
hormone receptors and the nature of hormone-receptor interactions.";
Structure 3:1341-1353(1995).
[15]
X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 22-260 IN COMPLEX WITH
ANTIBODY, GLYCOSYLATION AT ASN-77; ASN-99; ASN-113; ASN-177 AND
ASN-198, AND N-TERMINAL DISULFIDE BOND.
PubMed=17542669; DOI=10.1089/thy.2007.0034;
Sanders J., Chirgadze D.Y., Sanders P., Baker S., Sullivan A.,
Bhardwaja A., Bolton J., Reeve M., Nakatake N., Evans M., Richards T.,
Powell M., Miguel R.N., Blundell T.L., Furmaniak J., Smith B.R.;
"Crystal structure of the TSH receptor in complex with a thyroid-
stimulating autoantibody.";
Thyroid 17:395-410(2007).
[16]
ANALYSIS OF INVOLVEMENT OF VARIANT GLU-727 IN GRAVES DISEASE.
PubMed=11887032;
Chistiakov D.A., Savost'anov K.V., Turakulov R.I., Petunina N.,
Balabolkin M.I., Nosikov V.V.;
"Further studies of genetic susceptibility to Graves' disease in a
Russian population.";
Med. Sci. Monit. 8:CR180-CR184(2002).
[17]
ANALYSIS OF INVOLVEMENT OF VARIANT GLU-727 IN GRAVES DISEASE.
PubMed=12593721; DOI=10.1089/105072502321085171;
Ban Y., Greenberg D.A., Concepcion E.S., Tomer Y.;
"A germline single nucleotide polymorphism at the intracellular domain
of the human thyrotropin receptor does not have a major effect on the
development of Graves' disease.";
Thyroid 12:1079-1083(2002).
[18]
ANALYSIS OF INVOLVEMENT OF VARIANTS HIS-36; THR-52 AND GLU-727 IN
GRAVES DISEASE.
PubMed=12930595; DOI=10.1089/105072503322238773;
Ho S.-C., Goh S.-S., Khoo D.H.;
"Association of Graves' disease with intragenic polymorphism of the
thyrotropin receptor gene in a cohort of Singapore patients of multi-
ethnic origins.";
Thyroid 13:523-528(2003).
[19]
REVIEW ON VARIANTS.
PubMed=10870027; DOI=10.1530/eje.0.1430025;
Farid N.R., Kascur V., Balazs C.;
"The human thyrotropin receptor is highly mutable: a review of gain-
of-function mutations.";
Eur. J. Endocrinol. 143:25-30(2000).
[20]
VARIANT HIS-36.
PubMed=1955520; DOI=10.1210/jcem-73-6-1374;
Heldin N.-E., Gustavsson B., Westermark K., Westermark B.;
"A somatic point mutation in a putative ligand binding domain of the
TSH receptor in a patient with autoimmune hyperthyroidism.";
J. Clin. Endocrinol. Metab. 73:1374-1376(1991).
[21]
VARIANTS HYPERTHYROIDISM GLY-619 AND ILE-623.
PubMed=8413627; DOI=10.1038/365649a0;
Parma J., Duprez L., van Sande J., Cochaux P., Gervy C., Mockel J.,
Dumont J.E., Vassart G.;
"Somatic mutations in the thyrotropin receptor gene cause
hyperfunctioning thyroid adenomas.";
Nature 365:649-651(1993).
[22]
VARIANT THR-52.
PubMed=7508946; DOI=10.1210/jcem.78.2.7508946;
Bahn R.S., Dutton C.M., Heufelder A.E., Sarkar G.;
"A genomic point mutation in the extracellular domain of the
thyrotropin receptor in patients with Graves' ophthalmopathy.";
J. Clin. Endocrinol. Metab. 78:256-260(1994).
[23]
VARIANTS HYPERTHYROIDISM CYS-631; ILE-632; GLU-633 AND TYR-633.
PubMed=8045989; DOI=10.1210/jcem.79.2.8045989;
Porcellini A., Ciullo I., Laviola L., Amabile G., Fenzi G.,
Avvedimento V.E.;
"Novel mutations of thyrotropin receptor gene in thyroid
hyperfunctioning adenomas. Rapid identification by fine needle
aspiration biopsy.";
J. Clin. Endocrinol. Metab. 79:657-661(1994).
[24]
VARIANTS HYPERTHYROIDISM VAL-623 AND ILE-632.
PubMed=7989485; DOI=10.1210/jcem.79.6.7989485;
Paschke R., Tonacchera M., van Sande J., Parma J., Vassart G.;
"Identification and functional characterization of two new somatic
mutations causing constitutive activation of the thyrotropin receptor
in hyperfunctioning autonomous adenomas of the thyroid.";
J. Clin. Endocrinol. Metab. 79:1785-1789(1994).
[25]
VARIANTS HTNA ALA-509 AND TYR-672.
PubMed=7920658; DOI=10.1038/ng0794-396;
Duprez L., Parma J., van Sande J., Allgeier A., Leclere J.,
Schvartz C., Delisle M.-J., Decoulx M., Orgiazzi J., Dumont J.E.,
Vassart G.;
"Germline mutations in the thyrotropin receptor gene cause non-
autoimmune autosomal dominant hyperthyroidism.";
Nat. Genet. 7:396-401(1994).
[26]
CHARACTERIZATION OF VARIANT HIS-36.
PubMed=7556878; DOI=10.1016/0303-7207(95)03562-L;
Gustavsson B., Eklof C., Westermark K., Westermark B., Heldin N.-E.;
"Functional analysis of a variant of the thyrotropin receptor gene in
a family with Graves' disease.";
Mol. Cell. Endocrinol. 111:167-173(1995).
[27]
VARIANT HTNA LEU-631.
PubMed=7800007; DOI=10.1056/NEJM199501193320304;
Kopp P., van Sande J., Parma J., Duprez L., Gerber H., Joss E.,
Jameson J.L., Dumont J.E., Vassart G.;
"Congenital hyperthyroidism caused by a mutation in the thyrotropin-
receptor gene.";
N. Engl. J. Med. 332:150-154(1995).
[28]
VARIANTS CHNG1 ALA-162 AND ASN-167, AND VARIANT THR-52.
PubMed=7528344; DOI=10.1056/NEJM199501193320305;
Sunthornthepvarakul T., Gottschalk M.E., Hayashi Y., Refetoff S.;
"Resistance to thyrotropin caused by mutations in the thyrotropin-
receptor gene.";
N. Engl. J. Med. 332:155-160(1995).
[29]
VARIANTS PAPILLARY CANCER ILE-197; GLU-219; ASP-715 AND MET-723, AND
VARIANT GLU-727.
PubMed=7647578; DOI=10.1089/thy.1995.5.97;
Ohno M., Endo T., Ohta K., Gunji K., Onaya T.;
"Point mutations in the thyrotropin receptor in human thyroid
tumors.";
Thyroid 5:97-100(1995).
[30]
VARIANT THR-52.
PubMed=7488864; DOI=10.1089/thy.1995.5.255;
Cuddihy R.M., Bryant W.P., Bahn R.S.;
"Normal function in vivo of a homozygotic polymorphism in the human
thyrotropin receptor.";
Thyroid 5:255-257(1995).
[31]
VARIANTS HTNA ARG-505; TYR-650 AND SER-670.
PubMed=8636266; DOI=10.1210/jcem.81.2.8636266;
Tonacchera M., van Sande J., Cetani F., Swillens S., Schvartz C.,
Winiszewski P., Portmann L., Dumont J.E., Vassart G., Parma J.;
"Functional characteristics of three new germline mutations of the
thyrotropin receptor gene causing autosomal dominant toxic thyroid
hyperplasia.";
J. Clin. Endocrinol. Metab. 81:547-554(1996).
[32]
VARIANT HTNA THR-453.
PubMed=8964822; DOI=10.1210/jc.81.6.2023;
de Roux N., Polak M., Couet J., Leger J., Czernichow P., Milgrom E.,
Misrahi M.;
"A neomutation of the thyroid-stimulating hormone receptor in a severe
neonatal hyperthyroidism.";
J. Clin. Endocrinol. Metab. 81:2023-2026(1996).
[33]
VARIANTS CHNG1 SER-41; ALA-162; TRP-390; ASN-410 AND LEU-525.
PubMed=8954020; DOI=10.1210/jc.81.12.4229;
de Roux N., Misrahi M., Brauner R., Houang M., Carel J.-C.,
Granier M., Le Bouc Y., Ghinea N., Boumedienne A., Toublanc J.E.,
Milgrom E.;
"Four families with loss of function mutations of the thyrotropin
receptor.";
J. Clin. Endocrinol. Metab. 81:4229-4235(1996).
[34]
VARIANT INSULAR CARCINOMA HIS-633.
PubMed=9062474; DOI=10.1210/jcem.82.3.3838;
Russo D., Tumino S., Arturi F., Vigneri P., Grasso G., Pontecorvi A.,
Filetti S., Belfiore A.;
"Detection of an activating mutation of the thyrotropin receptor in a
case of an autonomously hyperfunctioning thyroid insular carcinoma.";
J. Clin. Endocrinol. Metab. 82:735-738(1997).
[35]
VARIANT CHNG1 GLN-109.
PubMed=9100579; DOI=10.1210/jcem.82.4.3863;
Clifton-Bligh R.J., Gregory J.W., Ludgate M., John R., Persani L.,
Asteria C., Beck-Peccoz P., Chatterjee V.K.K.;
"Two novel mutations in the thyrotropin (TSH) receptor gene in a child
with resistance to TSH.";
J. Clin. Endocrinol. Metab. 82:1094-1100(1997).
[36]
VARIANTS HYPERTHYROIDISM ASN-281; THR-281; THR-453; PHE-486; MET-486;
THR-568; GLY-619; ILE-623; PHE-629; LEU-630; LEU-631; ILE-632;
ALA-633; GLU-633; HIS-633; TYR-633 AND 658-ASN--ILE-661 DEL.
PubMed=9253356; DOI=10.1210/jcem.82.8.4144;
Parma J., Duprez L., van Sande J., Hermans J., Rocmans P.,
van Vliet G., Costagliola S., Rodien P., Dumont J.E., Vassart G.;
"Diversity and prevalence of somatic mutations in the thyrotropin
receptor and Gs alpha genes as a cause of toxic thyroid adenomas.";
J. Clin. Endocrinol. Metab. 82:2695-2701(1997).
[37]
VARIANT CHNG1 TRP-390.
PubMed=9329388; DOI=10.1210/jcem.82.10.4286;
Biebermann H., Schoeneberg T., Krude H., Schultz G., Gudermann T.,
Grueters A.;
"Mutations of the human thyrotropin receptor gene causing thyroid
hypoplasia and persistent congenital hypothyroidism.";
J. Clin. Endocrinol. Metab. 82:3471-3480(1997).
[38]
VARIANT HTNA ASN-505.
PubMed=9360555; DOI=10.1210/jcem.82.11.4378;
Holzapfel H.P., Wonerow P., von Petrykowski W., Henschen M.,
Scherbaum W.A., Paschke R.;
"Sporadic congenital hyperthyroidism due to a spontaneous germline
mutation in the thyrotropin receptor gene.";
J. Clin. Endocrinol. Metab. 82:3879-3884(1997).
[39]
VARIANT HTNA PHE-629.
PubMed=9398746; DOI=10.1210/jcem.82.12.4405;
Fuhrer D., Wonerow P., Willgerodt H., Paschke R.;
"Identification of a new thyrotropin receptor germline mutation
(Leu629Phe) in a family with neonatal onset of autosomal dominant
nonautoimmune hyperthyroidism.";
J. Clin. Endocrinol. Metab. 82:4234-4238(1997).
[40]
VARIANT CHNG1 THR-553.
PubMed=9185526; DOI=10.1172/JCI119497;
Abramowicz M.J., Duprez L., Parma J., Vassart G., Heinrichs C.;
"Familial congenital hypothyroidism due to inactivating mutation of
the thyrotropin receptor causing profound hypoplasia of the thyroid
gland.";
J. Clin. Invest. 99:3018-3024(1997).
[41]
VARIANT HYPERTHYROIDISM ILE-281.
PubMed=9294132; DOI=10.1172/JCI119687;
Kopp P., Muirhead S., Jourdain N., Gu W.X., Jameson J.L., Rodd C.;
"Congenital hyperthyroidism caused by a solitary toxic adenoma
harboring a novel somatic mutation (serine281-->isoleucine) in the
extracellular domain of the thyrotropin receptor.";
J. Clin. Invest. 100:1634-1639(1997).
[42]
VARIANT HTNA ILE-632.
PubMed=9349581; DOI=10.1089/thy.1997.7.765;
Kopp P., Jameson J.L., Roe T.F.;
"Congenital nonautoimmune hyperthyroidism in a nonidentical twin
caused by a sporadic germline mutation in the thyrotropin receptor
gene.";
Thyroid 7:765-770(1997).
[43]
VARIANT HTNA ASN-281, AND VARIANT HIS-528.
PubMed=9589634; DOI=10.1210/jcem.83.5.4776;
Grueters A., Schoeneberg T., Biebermann H., Krude H., Krohn H.P.,
Dralle H., Gudermann T.;
"Severe congenital hyperthyroidism caused by a germ-line neo mutation
in the extracellular portion of the thyrotropin receptor.";
J. Clin. Endocrinol. Metab. 83:1431-1436(1998).
[44]
VARIANT HTFG ARG-183.
PubMed=9854118; DOI=10.1056/NEJM199812173392505;
Rodien P., Bremont C., Raffin Sanson M.-L., Parma J., van Sande J.,
Costagliola S., Luton J.-P., Vassart G., Duprez L.;
"Familial gestational hyperthyroidism caused by a mutant thyrotropin
receptor hypersensitive to human chorionic gonadotropin.";
N. Engl. J. Med. 339:1823-1826(1998).
[45]
VARIANT HTNA SER-639.
PubMed=10199795; DOI=10.1210/jcem.84.4.5620;
Khoo D.H.C., Parma J., Rajasoorya C., Ho S.C., Vassart G.;
"A germline mutation of the thyrotropin receptor gene associated with
thyrotoxicosis and mitral valve prolapse in a Chinese family.";
J. Clin. Endocrinol. Metab. 84:1459-1462(1999).
[46]
VARIANTS MET-606; GLY-703; GLU-720 AND GLU-727.
PubMed=10487707; DOI=10.1210/jcem.84.9.5966;
Gabriel E.M., Bergert E.R., Grant C.S., van Heerden J.A.,
Thompson G.B., Morris J.C.;
"Germline polymorphism of codon 727 of human thyroid-stimulating
hormone receptor is associated with toxic multinodular goiter.";
J. Clin. Endocrinol. Metab. 84:3328-3335(1999).
[47]
VARIANT THYROID CARCINOMA VAL-677.
PubMed=10037070; DOI=10.1089/thy.1999.9.13;
Russo D., Wong M.G., Costante G., Chiefari E., Treseler P.A.,
Arturi F., Filetti S., Clark O.H.;
"A Val 677 activating mutation of the thyrotropin receptor in a
Hurthle cell thyroid carcinoma associated with thyrotoxicosis.";
Thyroid 9:13-17(1999).
[48]
VARIANT HYPERTHYROIDISM LEU-597.
PubMed=10560955; DOI=10.1089/thy.1999.9.1005;
Esapa C.T., Duprez L., Ludgate M., Mustafa M.S., Kendall-Taylor P.,
Vassart G., Harris P.E.;
"A novel thyrotropin receptor mutation in an infant with severe
thyrotoxicosis.";
Thyroid 9:1005-1010(1999).
[49]
VARIANT HYPERTHYROIDISM ARG-512, AND CHARACTERIZATION OF VARIANT
HYPERTHYROIDISM ARG-512.
PubMed=11022192; DOI=10.1530/eje.0.1430471;
Kosugi S., Hai N., Okamoto H., Sugawa H., Mori T.;
"A novel activating mutation in the thyrotropin receptor gene in an
autonomously functioning thyroid nodule developed by a Japanese
patient.";
Eur. J. Endocrinol. 143:471-477(2000).
[50]
VARIANT THR-52.
PubMed=10651846; DOI=10.1046/j.1365-2370.2000.00187.x;
Kaczur V., Takacs M., Szalai C., Falus A., Nagy Z., Berencsi G.,
Balazs C.;
"Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and
the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves'
disease.";
Eur. J. Immunogenet. 27:17-23(2000).
[51]
VARIANT CHNG1 ILE-477.
PubMed=10720030; DOI=10.1210/jcem.85.3.6460;
Tonacchera M., Agretti P., Pinchera A., Rosellini V., Perri A.,
Collecchi P., Vitti P., Chiovato L.;
"Congenital hypothyroidism with impaired thyroid response to
thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a
new inactivating mutation of the TSH receptor gene.";
J. Clin. Endocrinol. Metab. 85:1001-1008(2000).
[52]
VARIANTS HTNA ASN-281; MET-486; PHE-486; PHE-629; ALA-632; ILE-632;
GLU-633 AND VAL-647.
PubMed=10852462; DOI=10.1210/jcem.85.6.6634;
Tonacchera M., Agretti P., Chiovato L., Rosellini V., Ceccarini G.,
Perri A., Viacava P., Naccarato A.G., Miccoli P., Pinchera A.,
Vitti P.;
"Activating thyrotropin receptor mutations are present in
nonadenomatous hyperfunctioning nodules of toxic or autonomous
multinodular goiter.";
J. Clin. Endocrinol. Metab. 85:2270-2274(2000).
[53]
VARIANT GLU-727.
PubMed=10946859; DOI=10.1210/jcem.85.8.6704;
Muehlberg T., Herrmann K., Joba W., Kirchberger M., Heberling H.-J.,
Heufelder A.E.;
"Lack of association of nonautoimmune hyperfunctioning thyroid
disorders and a germline polymorphism of codon 727 of the human
thyrotropin receptor in a European Caucasian population.";
J. Clin. Endocrinol. Metab. 85:2640-2643(2000).
[54]
VARIANT CHNG1 CYS-310.
PubMed=11095460; DOI=10.1210/jcem.85.11.6985;
Russo D., Betterle C., Arturi F., Chiefari E., Girelli M.E.,
Filetti S.;
"A novel mutation in the thyrotropin (TSH) receptor gene causing loss
of TSH binding but constitutive receptor activation in a family with
resistance to TSH.";
J. Clin. Endocrinol. Metab. 85:4238-4242(2000).
[55]
VARIANTS HTNA ASN-281; SER-431 AND ILE-632.
PubMed=11127522; DOI=10.1007/s004230000145;
Biebermann H., Schoeneberg T., Krude H., Gudermann T., Grueters A.;
"Constitutively activating TSH-receptor mutations as a molecular cause
of non-autoimmune hyperthyroidism in childhood.";
Langenbecks Arch. Surg. 385:390-392(2000).
[56]
VARIANT HTNA THR-568.
PubMed=11081252;
Tonacchera M., Agretti P., Rosellini V., Ceccarini G., Perri A.,
Zampolli M., Longhi R., Larizza D., Pinchera A., Vitti P.,
Chiovato L.;
"Sporadic nonautoimmune congenital hyperthyroidism due to a strong
activating mutation of the thyrotropin receptor gene.";
Thyroid 10:859-863(2000).
[57]
VARIANT FOLLICULAR CARCINOMA PHE-486.
PubMed=11128715;
Camacho P., Gordon D., Chiefari E., Yong S., DeJong S., Pitale S.,
Russo D., Filetti S.;
"A Phe 486 thyrotropin receptor mutation in an autonomously
functioning follicular carcinoma that was causing hyperthyroidism.";
Thyroid 10:1009-1012(2000).
[58]
VARIANT HTNA VAL-463.
PubMed=11201847;
Fuhrer D., Warner J., Sequeira M., Paschke R., Gregory J.W.,
Ludgate M.;
"Novel TSHR germline mutation (Met463Val) masquerading as Graves'
disease in a large Welsh kindred with hyperthyroidism.";
Thyroid 10:1035-1041(2000).
[59]
VARIANT HTNA PHE-597, AND CHARACTERIZATION OF VARIANT HTNA PHE-597.
PubMed=11517004; DOI=10.1530/eje.0.1450249;
Alberti L., Proverbio M.C., Costagliola S., Weber G., Beck-Peccoz P.,
Chiumello G., Persani L.;
"A novel germline mutation in the TSH receptor gene causes non-
autoimmune autosomal dominant hyperthyroidism.";
Eur. J. Endocrinol. 145:249-254(2001).
[60]
VARIANT HTNA SER-431, AND CHARACTERIZATION OF VARIANT HTNA SER-431.
PubMed=11549687; DOI=10.1210/jcem.86.9.7888;
Biebermann H., Schoeneberg T., Hess C., Germak J., Gudermann T.,
Grueters A.;
"The first activating TSH receptor mutation in transmembrane domain 1
identified in a family with nonautoimmune hyperthyroidism.";
J. Clin. Endocrinol. Metab. 86:4429-4433(2001).
[61]
VARIANTS ASN-281; ILE-425; THR-453; PHE-486; ASN-505; ARG-512;
GLN-512; THR-568; GLY-619; VAL-623; LEU-631; ALA-632; ILE-632;
GLU-633; HIS-633; TYR-633; ALA-639 AND PHE-656, AND CHARACTERIZATION
OF VARIANTS ILE-425 AND GLN-512.
PubMed=11434721; DOI=10.1007/s001090000170;
Truelzsch B., Krohn K., Wonerow P., Chey S., Holzapfel H.-P.,
Ackermann F., Fuehrer D., Paschke R.;
"Detection of thyroid-stimulating hormone receptor and G(s)alpha
mutations: in 75 toxic thyroid nodules by denaturing gradient gel
electrophoresis.";
J. Mol. Med. 78:684-691(2001).
[62]
VARIANTS CHNG1 HIS-450 AND SER-498.
PubMed=11442002; DOI=10.1089/105072501750302859;
Nagashima T., Murakami M., Onigata K., Morimura T., Nagashima K.,
Mori M., Morikawa A.;
"Novel inactivating missense mutations in the thyrotropin receptor
gene in Japanese children with resistance to thyrotropin.";
Thyroid 11:551-559(2001).
[63]
VARIANTS HYPERTHYROIDISM THR-453; MET-486; ARG-512 AND ALA-632.
PubMed=12213664; DOI=10.1530/eje.0.1470287;
Vanvooren V., Uchino S., Duprez L., Costa M.J., Vandekerckhove J.,
Parma J., Vassart G., Dumont J.E., van Sande J., Noguchi S.;
"Oncogenic mutations in the thyrotropin receptor of autonomously
functioning thyroid nodules in the Japanese population.";
Eur. J. Endocrinol. 147:287-291(2002).
[64]
VARIANTS CHNG1 SER-41; ALA-162; PRO-467 AND ARG-600.
PubMed=12050212; DOI=10.1210/jcem.87.6.8536;
Alberti L., Proverbio M.C., Costagliola S., Romoli R., Boldrighini B.,
Vigone M.C., Weber G., Chiumello G., Beck-Peccoz P., Persani L.;
"Germline mutations of TSH receptor gene as cause of nonautoimmune
subclinical hypothyroidism.";
J. Clin. Endocrinol. Metab. 87:2549-2555(2002).
[65]
VARIANT TOXIC THYROID ADENOMA ASN-593, VARIANT GLU-727,
CHARACTERIZATION OF VARIANT TOXIC THYROID ADENOMA ASN-593, AND
CHARACTERIZATION OF VARIANT GLU-727.
PubMed=12589819; DOI=10.1016/S0006-291X(03)00071-8;
Sykiotis G.P., Neumann S., Georgopoulos N.A., Sgourou A.,
Papachatzopoulou A., Markou K.B., Kyriazopoulou V., Paschke R.,
Vagenakis A.G., Papavassiliou A.G.;
"Functional significance of the thyrotropin receptor germline
polymorphism D727E.";
Biochem. Biophys. Res. Commun. 301:1051-1056(2003).
[66]
VARIANTS HIS-36; THR-52 AND GLU-727, AND ASSOCIATION WITH PLASMA TSH
LEVEL.
PubMed=12788902; DOI=10.1210/jc.2002-021592;
Peeters R.P., van Toor H., Klootwijk W., de Rijke Y.B.,
Kuiper G.G.J.M., Uitterlinden A.G., Visser T.J.;
"Polymorphisms in thyroid hormone pathway genes are associated with
plasma TSH and iodothyronine levels in healthy subjects.";
J. Clin. Endocrinol. Metab. 88:2880-2888(2003).
[67]
VARIANTS HIS-36 AND THR-52, AND RECEPTOR GENETIC ANALYSIS IN CHILDREN
WITH DOWN'S SYNDROME.
PubMed=14759073; DOI=10.1007/BF03348198;
Tonacchera M., Perri A., De Marco G., Agretti P., Montanelli L.,
Banco M.E., Corrias A., Bellone J., Tosi M.T., Vitti P., Martino E.,
Pinchera A., Chiovato L.;
"TSH receptor and Gs(alpha) genetic analysis in children with Down's
syndrome and subclinical hypothyroidism.";
J. Endocrinol. Invest. 26:997-1000(2003).
[68]
VARIANT CHNG1 THR-553.
PubMed=14725684; DOI=10.1111/j.1365-2265.2004.01967.x;
Park S.-M., Clifton-Bligh R.J., Betts P., Chatterjee V.K.K.;
"Congenital hypothyroidism and apparent athyreosis with compound
heterozygosity or compensated hypothyroidism with probable
hemizygosity for inactivating mutations of the TSH receptor.";
Clin. Endocrinol. (Oxf.) 60:220-227(2004).
[69]
VARIANT HTNA ASN-505.
PubMed=15163335; DOI=10.1111/j.1365-2265.2004.02040.x;
Vaidya B., Campbell V., Tripp J.H., Spyer G., Hattersley A.T.,
Ellard S.;
"Premature birth and low birth weight associated with nonautoimmune
hyperthyroidism due to an activating thyrotropin receptor gene
mutation.";
Clin. Endocrinol. (Oxf.) 60:711-718(2004).
[70]
VARIANTS CHNG1 ALA-162 AND PRO-252, AND CHARACTERIZATION OF VARIANT
CHNG1 PRO-252.
PubMed=15531543; DOI=10.1210/jc.2004-1243;
Tonacchera M., Perri A., De Marco G., Agretti P., Banco M.E.,
Di Cosmo C., Grasso L., Vitti P., Chiovato L., Pinchera A.;
"Low prevalence of thyrotropin receptor mutations in a large series of
subjects with sporadic and familial nonautoimmune subclinical
hypothyroidism.";
J. Clin. Endocrinol. Metab. 89:5787-5793(2004).
[71]
VARIANTS CHNG1 ALA-162; ASP-432 AND LEU-449, AND CHARACTERIZATION OF
VARIANTS CHNG1 ASP-432 AND LEU-449.
PubMed=25978107; DOI=10.1210/jc.2014-4511;
Labadi A., Grassi E.S., Gellen B., Kleinau G., Biebermann H.,
Ruzsa B., Gelmini G., Rideg O., Miseta A., Kovacs G.L., Patocs A.,
Felszeghy E., Nagy E.V., Mezosi E., Persani L.;
"Loss-of-function variants in a Hungarian cohort reveal structural
insights on TSH receptor maturation and signaling.";
J. Clin. Endocrinol. Metab. 100:E1039-E1045(2015).
-!- FUNCTION: Receptor for the thyroid-stimulating hormone (TSH) or
thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a
receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5)
or thyrostimulin (PubMed:12045258). The activity of this receptor
is mediated by G proteins which activate adenylate cyclase
(PubMed:11847099). Plays a central role in controlling thyroid
cell metabolism (By similarity). {ECO:0000250|UniProtKB:P21463,
ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:12045258}.
-!- SUBUNIT: Interacts with heterodimer GPHA2:GPHB5; this interaction
stimulates cAMP production (PubMed:12045258). Interacts (via the
PDZ-binding motif) with SCRIB; regulates TSHR trafficking and
function (PubMed:15775968). {ECO:0000269|PubMed:12045258,
ECO:0000269|PubMed:15775968}.
-!- INTERACTION:
Q14160:SCRIB; NbExp=3; IntAct=EBI-13939599, EBI-357345;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11847099};
Multi-pass membrane protein {ECO:0000305}. Basolateral cell
membrane {ECO:0000269|PubMed:11847099}; Multi-pass membrane
protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Comment=Additional isoforms seem to exist.;
Name=Long;
IsoId=P16473-1; Sequence=Displayed;
Name=Short;
IsoId=P16473-2; Sequence=VSP_001981, VSP_001982;
Note=Ref.6 (AAB24246) sequence is in conflict in position:
239:L->F. Ref.5 (AAB23390) and Ref.9 (AAH09237/AAI20974)
sequences are in conflict in position: 248:R->S. Ref.5
(AAB23390) sequence is in conflict in position: 251:M->T.
{ECO:0000305};
Name=3;
IsoId=P16473-3; Sequence=VSP_044643, VSP_044644;
Note=No experimental confirmation available. Ref.9 (AAI27629)
sequence is in conflict in position: 269:R->S. {ECO:0000305};
-!- TISSUE SPECIFICITY: Expressed in thyroide cells (at protein level)
(PubMed:11847099). Expressed in the thyroid (PubMed:2610690).
{ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:2610690}.
-!- PTM: Glycosylated. {ECO:0000269|PubMed:11847099}.
-!- PTM: Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin
receptor binding and activation. {ECO:0000269|PubMed:11847099}.
-!- POLYMORPHISM: The Asp727Glu polymorphism is associated with Graves
disease in a Russian population. The Glu727 allele and the
heterozygous Asp727Glu genotype are related to higher risk of the
disease. The Asp727Glu polymorphism significantly ameliorates
G(s)alpha protein activation in the presence of the gain-of-
function mutation Ala593Asn although it is functionally inert in
the context of the wild-type TSHR. {ECO:0000269|PubMed:11887032}.
-!- DISEASE: Note=Defects in TSHR are found in patients affected by
hyperthyroidism with different etiologies. Somatic, constitutively
activating TSHR mutations and/or constitutively activating
G(s)alpha mutations have been identified in toxic thyroid nodules
(TTNs) that are the predominant cause of hyperthyroidism in iodine
deficient areas. These mutations lead to TSH independent
activation of the cAMP cascade resulting in thyroid growth and
hormone production. TSHR mutations are found in autonomously
functioning thyroid nodules (AFTN), toxic multinodular goiter
(TMNG) and hyperfunctioning thyroid adenomas (HTA). TMNG
encompasses a spectrum of different clinical entities, ranging
from a single hyperfunctioning nodule within an enlarged thyroid,
to multiple hyperfunctioning areas scattered throughout the gland.
HTA are discrete encapsulated neoplasms characterized by TSH-
independent autonomous growth, hypersecretion of thyroid hormones,
and TSH suppression. Defects in TSHR are also a cause of thyroid
neoplasms (papillary and follicular cancers).
-!- DISEASE: Note=Autoantibodies against TSHR are directly responsible
for the pathogenesis and hyperthyroidism of Graves disease.
Antibody interaction with TSHR results in an uncontrolled receptor
stimulation.
-!- DISEASE: Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)
[MIM:275200]: A non-autoimmune condition characterized by
resistance to thyroid-stimulating hormone (TSH) leading to
increased levels of plasma TSH and low levels of thyroid hormone.
It presents variable severity depending on the completeness of the
defect. Most patients are euthyroid and asymptomatic, with a
normal sized thyroid gland. Only a subset of patients develop
hypothyroidism and present a hypoplastic thyroid gland.
{ECO:0000269|PubMed:10720030, ECO:0000269|PubMed:11095460,
ECO:0000269|PubMed:11442002, ECO:0000269|PubMed:12050212,
ECO:0000269|PubMed:14725684, ECO:0000269|PubMed:15531543,
ECO:0000269|PubMed:25978107, ECO:0000269|PubMed:7528344,
ECO:0000269|PubMed:8954020, ECO:0000269|PubMed:9100579,
ECO:0000269|PubMed:9185526, ECO:0000269|PubMed:9329388}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Familial gestational hyperthyroidism (HTFG) [MIM:603373]:
A condition characterized by abnormally high levels of serum
thyroid hormones occurring during early pregnancy.
{ECO:0000269|PubMed:9854118}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]: A
condition characterized by abnormally high levels of serum thyroid
hormones, thyroid hyperplasia, goiter and lack of anti-thyroid
antibodies. Typical features of Graves disease such as
exophthalmia, myxedema, antibodies anti-TSH receptor and
lymphocytic infiltration of the thyroid gland are absent.
{ECO:0000269|PubMed:10199795, ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11081252, ECO:0000269|PubMed:11127522,
ECO:0000269|PubMed:11201847, ECO:0000269|PubMed:11517004,
ECO:0000269|PubMed:11549687, ECO:0000269|PubMed:15163335,
ECO:0000269|PubMed:7800007, ECO:0000269|PubMed:7920658,
ECO:0000269|PubMed:8636266, ECO:0000269|PubMed:8964822,
ECO:0000269|PubMed:9349581, ECO:0000269|PubMed:9360555,
ECO:0000269|PubMed:9398746, ECO:0000269|PubMed:9589634}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
FSH/LSH/TSH subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
-!- SEQUENCE CAUTION:
Sequence=AAA70232.1; Type=Frameshift; Positions=130, 135, 612; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=TSH receptor database;
URL="http://endokrinologie.uniklinikum-leipzig.de/tsh/";
-!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and
polymorphism database;
URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=TSHR";
-!- WEB RESOURCE: Name=Wikipedia; Note=TSH receptor entry;
URL="https://en.wikipedia.org/wiki/TSH_receptor";
-!- WEB RESOURCE: Name=Sequence-structure-function-analysis of
glycoprotein hormone receptors;
URL="http://www.ssfa-gphr.de/";
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/TSHRID290ch14q31.html";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; M31774; AAA36783.1; -; mRNA.
EMBL; M32215; AAA61236.1; -; mRNA.
EMBL; M73747; AAA70232.1; ALT_FRAME; mRNA.
EMBL; S45272; AAB23390.2; -; mRNA.
EMBL; S49816; AAB24246.1; -; mRNA.
EMBL; AY429111; AAR07906.1; -; mRNA.
EMBL; AC007262; AAD31568.1; -; Genomic_DNA.
EMBL; AC010072; AAF09032.1; -; Genomic_DNA.
EMBL; AC010582; AAF26775.1; -; Genomic_DNA.
EMBL; AL136040; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC009237; AAH09237.1; -; mRNA.
EMBL; BC024205; AAH24205.1; -; mRNA.
EMBL; BC063613; AAH63613.1; -; mRNA.
EMBL; BC108653; AAI08654.1; -; mRNA.
EMBL; BC120973; AAI20974.1; -; mRNA.
EMBL; BC127628; AAI27629.1; -; mRNA.
EMBL; BC141970; AAI41971.1; -; mRNA.
CCDS; CCDS32131.1; -. [P16473-2]
CCDS; CCDS55935.1; -. [P16473-3]
CCDS; CCDS9872.1; -. [P16473-1]
PIR; A33789; QRHURH.
PIR; JC1319; JC1319.
PIR; T01787; T01787.
RefSeq; NP_000360.2; NM_000369.2.
RefSeq; NP_001018046.1; NM_001018036.2. [P16473-2]
RefSeq; NP_001136098.1; NM_001142626.2. [P16473-3]
RefSeq; XP_005268096.1; XM_005268039.1. [P16473-2]
RefSeq; XP_006720308.1; XM_006720245.1. [P16473-3]
UniGene; Hs.160411; -.
PDB; 1XUM; Model; -; A=54-236.
PDB; 2XWT; X-ray; 1.90 A; C=22-260.
PDB; 3G04; X-ray; 2.55 A; C=22-260.
PDBsum; 1XUM; -.
PDBsum; 2XWT; -.
PDBsum; 3G04; -.
ProteinModelPortal; P16473; -.
SMR; P16473; -.
BioGrid; 113104; 30.
IntAct; P16473; 2.
STRING; 9606.ENSP00000298171; -.
BindingDB; P16473; -.
ChEMBL; CHEMBL1963; -.
DrugBank; DB00024; Thyrotropin Alfa.
GuidetoPHARMACOLOGY; 255; -.
iPTMnet; P16473; -.
PhosphoSitePlus; P16473; -.
SwissPalm; P16473; -.
BioMuta; TSHR; -.
DMDM; 62298994; -.
PaxDb; P16473; -.
PeptideAtlas; P16473; -.
PRIDE; P16473; -.
DNASU; 7253; -.
Ensembl; ENST00000342443; ENSP00000340113; ENSG00000165409. [P16473-2]
Ensembl; ENST00000554435; ENSP00000450549; ENSG00000165409. [P16473-3]
GeneID; 7253; -.
KEGG; hsa:7253; -.
UCSC; uc001xvc.4; human. [P16473-1]
CTD; 7253; -.
DisGeNET; 7253; -.
EuPathDB; HostDB:ENSG00000165409.15; -.
GeneCards; TSHR; -.
H-InvDB; HIX0021925; -.
HGNC; HGNC:12373; TSHR.
HPA; CAB000473; -.
MalaCards; TSHR; -.
MIM; 275200; phenotype.
MIM; 603372; gene+phenotype.
MIM; 603373; phenotype.
MIM; 609152; phenotype.
neXtProt; NX_P16473; -.
OpenTargets; ENSG00000165409; -.
Orphanet; 95713; Athyreosis.
Orphanet; 99819; Familial gestational hyperthyroidism.
Orphanet; 424; Familial hyperthyroidism due to mutations in TSH receptor.
Orphanet; 90673; Hypothyroidism due to TSH receptor mutations.
Orphanet; 95720; Thyroid hypoplasia.
PharmGKB; PA37042; -.
eggNOG; KOG2087; Eukaryota.
eggNOG; ENOG410XR1T; LUCA.
GeneTree; ENSGT00760000119088; -.
HOVERGEN; HBG052887; -.
InParanoid; P16473; -.
KO; K04249; -.
PhylomeDB; P16473; -.
Reactome; R-HSA-375281; Hormone ligand-binding receptors.
Reactome; R-HSA-418555; G alpha (s) signalling events.
SignaLink; P16473; -.
SIGNOR; P16473; -.
ChiTaRS; TSHR; human.
EvolutionaryTrace; P16473; -.
GeneWiki; Thyrotropin_receptor; -.
GenomeRNAi; 7253; -.
PRO; PR:P16473; -.
Proteomes; UP000005640; Chromosome 14.
Bgee; ENSG00000165409; -.
CleanEx; HS_TSHR; -.
ExpressionAtlas; P16473; baseline and differential.
Genevisible; P16473; HS.
GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
GO; GO:0009986; C:cell surface; ISS:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0043235; C:receptor complex; IDA:MGI.
GO; GO:0008528; F:G-protein coupled peptide receptor activity; IBA:GO_Central.
GO; GO:0044877; F:protein-containing complex binding; IDA:UniProtKB.
GO; GO:0004872; F:receptor activity; IMP:UniProtKB.
GO; GO:0004996; F:thyroid-stimulating hormone receptor activity; IMP:UniProtKB.
GO; GO:0007190; P:activation of adenylate cyclase activity; IBA:GO_Central.
GO; GO:0007189; P:adenylate cyclase-activating G-protein coupled receptor signaling pathway; IBA:GO_Central.
GO; GO:0007166; P:cell surface receptor signaling pathway; IMP:UniProtKB.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:1904588; P:cellular response to glycoprotein; IMP:UniProtKB.
GO; GO:1905229; P:cellular response to thyrotropin-releasing hormone; IMP:UniProtKB.
GO; GO:0007186; P:G-protein coupled receptor signaling pathway; TAS:Reactome.
GO; GO:0007187; P:G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; TAS:ProtInc.
GO; GO:0009755; P:hormone-mediated signaling pathway; IBA:GO_Central.
GO; GO:0007399; P:nervous system development; IBA:GO_Central.
GO; GO:0045762; P:positive regulation of adenylate cyclase activity; IMP:UniProtKB.
GO; GO:0030819; P:positive regulation of cAMP biosynthetic process; IMP:UniProtKB.
GO; GO:0008284; P:positive regulation of cell proliferation; TAS:ProtInc.
GO; GO:0038194; P:thyroid-stimulating hormone signaling pathway; IMP:UniProtKB.
Gene3D; 3.80.10.10; -; 1.
InterPro; IPR000276; GPCR_Rhodpsn.
InterPro; IPR017452; GPCR_Rhodpsn_7TM.
InterPro; IPR002131; Gphrmn_rcpt_fam.
InterPro; IPR026906; LRR_5.
InterPro; IPR032675; LRR_dom_sf.
InterPro; IPR002274; TSH_rcpt.
InterPro; IPR034298; TSHR/LHCGR/FSHR.
PANTHER; PTHR24372; PTHR24372; 1.
PANTHER; PTHR24372:SF0; PTHR24372:SF0; 1.
Pfam; PF00001; 7tm_1; 1.
Pfam; PF13306; LRR_5; 2.
PRINTS; PR00373; GLYCHORMONER.
PRINTS; PR00237; GPCRRHODOPSN.
PRINTS; PR01145; TSHRECEPTOR.
PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Congenital hypothyroidism; Direct protein sequencing;
Disease mutation; Disulfide bond; G-protein coupled receptor;
Glycoprotein; Leucine-rich repeat; Membrane; Polymorphism; Receptor;
Reference proteome; Repeat; Signal; Sulfation; Transducer;
Transmembrane; Transmembrane helix.
SIGNAL 1 20
CHAIN 21 764 Thyrotropin receptor.
/FTId=PRO_0000012786.
TOPO_DOM 21 413 Extracellular. {ECO:0000255}.
TRANSMEM 414 441 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 442 450 Cytoplasmic. {ECO:0000255}.
TRANSMEM 451 473 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 474 494 Extracellular. {ECO:0000255}.
TRANSMEM 495 517 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 518 537 Cytoplasmic. {ECO:0000255}.
TRANSMEM 538 560 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 561 580 Extracellular. {ECO:0000255}.
TRANSMEM 581 602 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 603 625 Cytoplasmic. {ECO:0000255}.
TRANSMEM 626 649 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 650 660 Extracellular. {ECO:0000255}.
TRANSMEM 661 682 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 683 764 Cytoplasmic. {ECO:0000255}.
REPEAT 100 124 LRR 1.
REPEAT 125 150 LRR 2.
REPEAT 152 174 LRR 3.
REPEAT 176 199 LRR 4.
REPEAT 200 223 LRR 5.
REPEAT 227 248 LRR 6.
REPEAT 250 271 LRR 7.
MOTIF 762 764 PDZ-binding.
MOD_RES 385 385 Sulfotyrosine.
{ECO:0000305|PubMed:11847099}.
CARBOHYD 77 77 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:11502179,
ECO:0000269|PubMed:17542669}.
CARBOHYD 99 99 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:17542669}.
CARBOHYD 113 113 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:11502179,
ECO:0000269|PubMed:17542669}.
CARBOHYD 177 177 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:17542669}.
CARBOHYD 198 198 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:11502179,
ECO:0000269|PubMed:17542669}.
CARBOHYD 302 302 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:11502179}.
DISULFID 31 41
DISULFID 494 569 {ECO:0000255|PROSITE-ProRule:PRU00521}.
VAR_SEQ 232 274 DVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHL
TR -> VENVAVSGKGFCKSLFSWLYRLPLGRKSLSFETQK
APRSSMPS (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_044643.
VAR_SEQ 232 253 DVSQTSVTALPSKGLEHLKELI -> LPLGRKSLSFETQKA
PRSSMPS (in isoform Short).
{ECO:0000303|PubMed:1445355,
ECO:0000303|PubMed:1530609,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_001981.
VAR_SEQ 254 764 Missing (in isoform Short).
{ECO:0000303|PubMed:1445355,
ECO:0000303|PubMed:1530609,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_001982.
VAR_SEQ 275 764 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_044644.
VARIANT 34 34 E -> K (in dbSNP:rs45499704).
/FTId=VAR_055925.
VARIANT 36 36 D -> H (in a patient with Graves disease;
dbSNP:rs61747482).
{ECO:0000269|PubMed:12788902,
ECO:0000269|PubMed:12930595,
ECO:0000269|PubMed:14759073,
ECO:0000269|PubMed:1955520,
ECO:0000269|PubMed:7556878}.
/FTId=VAR_003564.
VARIANT 41 41 C -> S (in CHNG1).
{ECO:0000269|PubMed:12050212,
ECO:0000269|PubMed:8954020}.
/FTId=VAR_011519.
VARIANT 52 52 P -> T (does not contribute to the
genetic susceptibility to Graves disease;
dbSNP:rs2234919).
{ECO:0000269|PubMed:10651846,
ECO:0000269|PubMed:12788902,
ECO:0000269|PubMed:12930595,
ECO:0000269|PubMed:14759073,
ECO:0000269|PubMed:7488864,
ECO:0000269|PubMed:7508946,
ECO:0000269|PubMed:7528344}.
/FTId=VAR_003565.
VARIANT 109 109 R -> Q (in CHNG1).
{ECO:0000269|PubMed:9100579}.
/FTId=VAR_011520.
VARIANT 162 162 P -> A (in CHNG1; dbSNP:rs121908863).
{ECO:0000269|PubMed:12050212,
ECO:0000269|PubMed:15531543,
ECO:0000269|PubMed:25978107,
ECO:0000269|PubMed:7528344,
ECO:0000269|PubMed:8954020}.
/FTId=VAR_011521.
VARIANT 167 167 I -> N (in CHNG1).
{ECO:0000269|PubMed:7528344}.
/FTId=VAR_011522.
VARIANT 183 183 K -> R (in HTFG; enhances receptor
response to chorionic gonadotropin).
{ECO:0000269|PubMed:9854118}.
/FTId=VAR_003566.
VARIANT 197 197 F -> I (in papillary cancer).
{ECO:0000269|PubMed:7647578}.
/FTId=VAR_003567.
VARIANT 219 219 D -> E (in papillary cancer).
{ECO:0000269|PubMed:7647578}.
/FTId=VAR_003568.
VARIANT 252 252 L -> P (in CHNG1; displays a low
expression at the cell surface and a
reduced response to bovine TSH in terms
of cAMP production).
{ECO:0000269|PubMed:15531543}.
/FTId=VAR_021495.
VARIANT 281 281 S -> I (in hyperthyroidism; congenital;
due to a toxic adenoma).
{ECO:0000269|PubMed:9294132}.
/FTId=VAR_003569.
VARIANT 281 281 S -> N (in HTNA; gain of function; found
in toxic thyroid nodules and
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11127522,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:9253356,
ECO:0000269|PubMed:9589634}.
/FTId=VAR_003570.
VARIANT 281 281 S -> T (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:9253356}.
/FTId=VAR_011523.
VARIANT 310 310 R -> C (in CHNG1).
{ECO:0000269|PubMed:11095460}.
/FTId=VAR_011524.
VARIANT 390 390 C -> W (in CHNG1; persistent
hypothyroidism and defective thyroid
development; abolishes high affinity
hormone binding).
{ECO:0000269|PubMed:8954020,
ECO:0000269|PubMed:9329388}.
/FTId=VAR_011525.
VARIANT 410 410 D -> N (in CHNG1; lack of adenylate
cyclase activation).
{ECO:0000269|PubMed:8954020}.
/FTId=VAR_011526.
VARIANT 425 425 S -> I (found in toxic thyroid nodules; 8
to 9 times higher levels of basal cAMP
than wild-type TSHR and similar response
to maximal TSH stimulation).
{ECO:0000269|PubMed:11434721}.
/FTId=VAR_021496.
VARIANT 431 431 G -> S (in HTNA; gain of function;
constitutive activation of the G(s)/
adenylyl cyclase system).
{ECO:0000269|PubMed:11127522,
ECO:0000269|PubMed:11549687}.
/FTId=VAR_011527.
VARIANT 432 432 N -> D (in CHNG1; abolishes cell membrane
location; abolishes adenylate cyclase-
activating G-protein coupled receptor
signaling pathway; abolishes
phospholipase C-activating G-protein
coupled receptor signaling pathway).
{ECO:0000269|PubMed:25978107}.
/FTId=VAR_075585.
VARIANT 449 449 P -> L (in CHNG1; no effect on cell
membrane location; upon TSH stimulation
decreases more phospholipase C-activating
G-protein coupled receptor signaling
pathway than adenylate cyclase-activating
G-protein coupled receptor signaling
pathway). {ECO:0000269|PubMed:25978107}.
/FTId=VAR_075586.
VARIANT 450 450 R -> H (in CHNG1).
{ECO:0000269|PubMed:11442002}.
/FTId=VAR_011528.
VARIANT 453 453 M -> T (in HTNA; sporadic; found in toxic
thyroid nodules and hyperfunctioning
thyroid adenomas).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:12213664,
ECO:0000269|PubMed:8964822,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011529.
VARIANT 463 463 M -> V (in HTNA; gain of function).
{ECO:0000269|PubMed:11201847}.
/FTId=VAR_011530.
VARIANT 467 467 L -> P (in CHNG1).
{ECO:0000269|PubMed:12050212}.
/FTId=VAR_017295.
VARIANT 477 477 T -> I (in CHNG1; severe hypothyroidism).
{ECO:0000269|PubMed:10720030}.
/FTId=VAR_017296.
VARIANT 486 486 I -> F (in HTNA; found in thyroid toxic
nodules and hyperfunctioning thyroid
adenomas; also in hyperfunctioning
follicular carcinoma).
{ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11128715,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011531.
VARIANT 486 486 I -> M (in HTNA; found in
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:12213664,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011532.
VARIANT 498 498 G -> S (in CHNG1).
{ECO:0000269|PubMed:11442002}.
/FTId=VAR_011533.
VARIANT 505 505 S -> N (in HTNA; found in toxic thyroid
nodules). {ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:15163335,
ECO:0000269|PubMed:9360555}.
/FTId=VAR_003571.
VARIANT 505 505 S -> R (in HTNA; gain of function).
{ECO:0000269|PubMed:8636266}.
/FTId=VAR_011534.
VARIANT 509 509 V -> A (in HTNA; gain of function).
{ECO:0000269|PubMed:7920658}.
/FTId=VAR_011535.
VARIANT 512 512 L -> Q (found in toxic thyroid nodules; 5
times higher levels of basal cAMP than
wild-type TSHR and slightly less response
to maximal TSH stimulation).
{ECO:0000269|PubMed:11434721}.
/FTId=VAR_021497.
VARIANT 512 512 L -> R (in hyperthyroidism; associated
with autonomously functioning thyroid
nodules; 3.3-fold increase in basal cAMP
level). {ECO:0000269|PubMed:11022192,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:12213664}.
/FTId=VAR_011536.
VARIANT 525 525 F -> L (in CHNG1; impairs adenylate
cyclase activation).
{ECO:0000269|PubMed:8954020}.
/FTId=VAR_011537.
VARIANT 528 528 R -> H. {ECO:0000269|PubMed:9589634}.
/FTId=VAR_003572.
VARIANT 553 553 A -> T (in CHNG1; severe hypothyroidism).
{ECO:0000269|PubMed:14725684,
ECO:0000269|PubMed:9185526}.
/FTId=VAR_011538.
VARIANT 568 568 I -> T (in HTNA; found in thyroid toxic
nodules and hyperfunctioning thyroid
adenomas). {ECO:0000269|PubMed:11081252,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011539.
VARIANT 593 593 A -> N (in toxic thyroid adenoma;
requires 2 nucleotide substitutions;
somatic mutation; constitutively
activates the cAMP cascade).
{ECO:0000269|PubMed:12589819}.
/FTId=VAR_021498.
VARIANT 597 597 V -> F (in HTNA; 11-fold increase in
specific constitutive activity associated
with reduction in receptor protein
expression).
{ECO:0000269|PubMed:11517004}.
/FTId=VAR_021499.
VARIANT 597 597 V -> L (in hyperthyroidism; congenital
with severe thyrotoxicosis).
{ECO:0000269|PubMed:10560955}.
/FTId=VAR_011540.
VARIANT 600 600 C -> R (in CHNG1).
{ECO:0000269|PubMed:12050212}.
/FTId=VAR_017297.
VARIANT 606 606 I -> M. {ECO:0000269|PubMed:10487707}.
/FTId=VAR_011541.
VARIANT 619 619 D -> G (in hyperthyroidism; found in
toxic thyroid nodules; associated with
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:8413627,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_003573.
VARIANT 623 623 A -> I (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas;
gain of function; requires 2 nucleotide
substitutions).
{ECO:0000269|PubMed:8413627,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_003574.
VARIANT 623 623 A -> V (in hyperthyroidism; found in
toxic thyroid nodules; associated with
hyperfunctioning thyroid adenomas; gain
of function).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:7989485}.
/FTId=VAR_011542.
VARIANT 629 629 L -> F (in HTNA; also in hyperfunctioning
thyroid adenomas and non-adenomatous
nodules). {ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:9253356,
ECO:0000269|PubMed:9398746}.
/FTId=VAR_003575.
VARIANT 630 630 I -> L (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:9253356}.
/FTId=VAR_011543.
VARIANT 631 631 F -> C (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:8045989}.
/FTId=VAR_011544.
VARIANT 631 631 F -> L (in HTNA; gain of function; found
in toxic thyroid nodules and
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:7800007,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011545.
VARIANT 632 632 T -> A (in HTNA; found in toxic thyroid
nodules and hyperfunctioning non-
adenomatous nodules).
{ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:12213664}.
/FTId=VAR_011546.
VARIANT 632 632 T -> I (in HTNA; gain of function; found
in thyroid toxic nodules and
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11127522,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:7989485,
ECO:0000269|PubMed:8045989,
ECO:0000269|PubMed:9253356,
ECO:0000269|PubMed:9349581}.
/FTId=VAR_011547.
VARIANT 633 633 D -> A (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:9253356}.
/FTId=VAR_011548.
VARIANT 633 633 D -> E (in HTNA; found in thyroid toxic
nodules and hyperfunctioning thyroid
adenomas). {ECO:0000269|PubMed:10852462,
ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:8045989,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011549.
VARIANT 633 633 D -> H (in hyperthyroidism; found in
toxic thyroid nodules; associated with
hyperfunctioning thyroid adenomas; also
in hyperfunctioning insular carcinoma;
with severe thyrotoxicosis; gain of
function; dbSNP:rs28937584).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:9062474,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011550.
VARIANT 633 633 D -> Y (in hyperthyroidism; found in
toxic thyroid nodules; associated with
hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:11434721,
ECO:0000269|PubMed:8045989,
ECO:0000269|PubMed:9253356}.
/FTId=VAR_011551.
VARIANT 639 639 P -> A (found in toxic thyroid nodules).
{ECO:0000269|PubMed:11434721}.
/FTId=VAR_021500.
VARIANT 639 639 P -> S (in HTNA; gain of function).
{ECO:0000269|PubMed:10199795}.
/FTId=VAR_011552.
VARIANT 647 647 A -> V (in HTNA; found in non-adenomatous
hyperfunctioning nodules).
{ECO:0000269|PubMed:10852462}.
/FTId=VAR_011553.
VARIANT 650 650 N -> Y (in HTNA; gain of function).
{ECO:0000269|PubMed:8636266}.
/FTId=VAR_011554.
VARIANT 656 656 V -> F (found in toxic thyroid nodules).
{ECO:0000269|PubMed:11434721}.
/FTId=VAR_021501.
VARIANT 658 661 Missing (in hyperthyroidism; associated
with hyperfunctioning thyroid adenomas).
{ECO:0000269|PubMed:9253356}.
/FTId=VAR_011555.
VARIANT 670 670 N -> S (in HTNA; gain of function).
{ECO:0000269|PubMed:8636266}.
/FTId=VAR_011556.
VARIANT 672 672 C -> Y (in HTNA; gain of function).
{ECO:0000269|PubMed:7920658}.
/FTId=VAR_011557.
VARIANT 677 677 L -> V (in thyroid carcinoma; with
thyrotoxicosis; gain of function).
{ECO:0000269|PubMed:10037070}.
/FTId=VAR_011558.
VARIANT 703 703 A -> G. {ECO:0000269|PubMed:10487707}.
/FTId=VAR_011559.
VARIANT 715 715 N -> D (in papillary cancer).
{ECO:0000269|PubMed:7647578}.
/FTId=VAR_003576.
VARIANT 720 720 Q -> E. {ECO:0000269|PubMed:10487707}.
/FTId=VAR_011560.
VARIANT 723 723 K -> M (in papillary cancer).
{ECO:0000269|PubMed:7647578}.
/FTId=VAR_003577.
VARIANT 727 727 D -> E (may be a predisposing factor in
toxic multinodular goiter pathogenesis;
activation of the cAMP cascade does not
differ from the wild-type;
dbSNP:rs1991517).
{ECO:0000269|PubMed:10487707,
ECO:0000269|PubMed:10946859,
ECO:0000269|PubMed:12508121,
ECO:0000269|PubMed:12589819,
ECO:0000269|PubMed:12788902,
ECO:0000269|PubMed:2302212,
ECO:0000269|PubMed:7647578}.
/FTId=VAR_003578.
MUTAGEN 283 283 C->S: Abolishes cell surface expression.
{ECO:0000269|PubMed:11847099}.
MUTAGEN 385 387 YDY->EDE: Inhibits intracellular cAMP
accumulation.
{ECO:0000269|PubMed:11847099}.
MUTAGEN 385 387 YDY->FDF: Abolishes sulfation. Inhibits
intracellular cAMP accumulation.
{ECO:0000269|PubMed:11847099}.
MUTAGEN 385 385 Y->E: Reduces binding with thyrotropin.
Inhibits intracellular cAMP accumulation.
{ECO:0000269|PubMed:11847099,
ECO:0000305|PubMed:11847099}.
MUTAGEN 385 385 Y->F: Reduces sulfation. Reduces binding
with thyrotropin. Inhibits intracellular
cAMP accumulation.
{ECO:0000269|PubMed:11847099,
ECO:0000305|PubMed:11847099}.
MUTAGEN 387 387 Y->E: No change in intracellular cAMP
accumulation.
{ECO:0000269|PubMed:11847099}.
MUTAGEN 387 387 Y->F: Reduces sulfation. No change in
intracellular cAMP accumulation.
{ECO:0000269|PubMed:11847099}.
CONFLICT 87 87 V -> L (in Ref. 2; no nucleotide entry).
{ECO:0000305}.
CONFLICT 196 198 AFN -> DFF (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 257 257 T -> S (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 264 264 P -> A (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 306 308 MQS -> IET (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 528 528 R -> A (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 601 601 Y -> H (in Ref. 1; AAA36783).
{ECO:0000305}.
CONFLICT 635 635 I -> T (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 645 645 L -> V (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 669 669 L -> I (in Ref. 4; AAA70232).
{ECO:0000305}.
CONFLICT 744 744 N -> K (in Ref. 3; AAA61236).
{ECO:0000305}.
STRAND 26 28 {ECO:0000244|PDB:2XWT}.
STRAND 30 33 {ECO:0000244|PDB:2XWT}.
TURN 35 37 {ECO:0000244|PDB:3G04}.
STRAND 38 41 {ECO:0000244|PDB:2XWT}.
STRAND 56 61 {ECO:0000244|PDB:2XWT}.
STRAND 65 67 {ECO:0000244|PDB:2XWT}.
TURN 69 74 {ECO:0000244|PDB:2XWT}.
STRAND 80 84 {ECO:0000244|PDB:2XWT}.
TURN 94 96 {ECO:0000244|PDB:2XWT}.
STRAND 97 99 {ECO:0000244|PDB:2XWT}.
STRAND 105 111 {ECO:0000244|PDB:2XWT}.
STRAND 121 123 {ECO:0000244|PDB:2XWT}.
STRAND 130 136 {ECO:0000244|PDB:2XWT}.
STRAND 152 160 {ECO:0000244|PDB:2XWT}.
TURN 169 174 {ECO:0000244|PDB:2XWT}.
STRAND 175 183 {ECO:0000244|PDB:2XWT}.
STRAND 190 192 {ECO:0000244|PDB:3G04}.
TURN 194 199 {ECO:0000244|PDB:2XWT}.
STRAND 201 206 {ECO:0000244|PDB:2XWT}.
TURN 218 223 {ECO:0000244|PDB:2XWT}.
STRAND 229 232 {ECO:0000244|PDB:2XWT}.
STRAND 250 253 {ECO:0000244|PDB:2XWT}.
SEQUENCE 764 AA; 86830 MW; D2EE9CEBFD64A65F CRC64;
MRPADLLQLV LLLDLPRDLG GMGCSSPPCE CHQEEDFRVT CKDIQRIPSL PPSTQTLKLI
ETHLRTIPSH AFSNLPNISR IYVSIDVTLQ QLESHSFYNL SKVTHIEIRN TRNLTYIDPD
ALKELPLLKF LGIFNTGLKM FPDLTKVYST DIFFILEITD NPYMTSIPVN AFQGLCNETL
TLKLYNNGFT SVQGYAFNGT KLDAVYLNKN KYLTVIDKDA FGGVYSGPSL LDVSQTSVTA
LPSKGLEHLK ELIARNTWTL KKLPLSLSFL HLTRADLSYP SHCCAFKNQK KIRGILESLM
CNESSMQSLR QRKSVNALNS PLHQEYEENL GDSIVGYKEK SKFQDTHNNA HYYVFFEEQE
DEIIGFGQEL KNPQEETLQA FDSHYDYTIC GDSEDMVCTP KSDEFNPCED IMGYKFLRIV
VWFVSLLALL GNVFVLLILL TSHYKLNVPR FLMCNLAFAD FCMGMYLLLI ASVDLYTHSE
YYNHAIDWQT GPGCNTAGFF TVFASELSVY TLTVITLERW YAITFAMRLD RKIRLRHACA
IMVGGWVCCF LLALLPLVGI SSYAKVSICL PMDTETPLAL AYIVFVLTLN IVAFVIVCCC
YVKIYITVRN PQYNPGDKDT KIAKRMAVLI FTDFICMAPI SFYALSAILN KPLITVSNSK
ILLVLFYPLN SCANPFLYAI FTKAFQRDVF ILLSKFGICK RQAQAYRGQR VPPKNSTDIQ
VQKVTHDMRQ GLHNMEDVYE LIENSHLTPK KQGQISEEYM QTVL


Related products :

Catalog number Product name Quantity
EIAAB44213 Pig,Sus scrofa,Thyroid-stimulating hormone receptor,Thyrotropin receptor,TSHR,TSH-R
EIAAB44211 Rat,Rattus norvegicus,Thyroid-stimulating hormone receptor,Thyrotropin receptor,Tshr,TSH-R
EIAAB44209 Mouse,Mus musculus,Thyroid-stimulating hormone receptor,Thyrotropin receptor,Tshr,TSH-R
EIAAB44210 Bos taurus,Bovine,Thyroid-stimulating hormone receptor,Thyrotropin receptor,TSHR,TSH-R
EIAAB44214 Homo sapiens,Human,LGR3,Thyroid-stimulating hormone receptor,Thyrotropin receptor,TSHR,TSH-R
EIAAB44212 Canis familiaris,Canis lupus familiaris,Dog,Thyroid-stimulating hormone receptor,Thyrotropin receptor,TSHR,TSH-R
GB-30094 G-protein coupled receptor (GPCRs) related antibodies: Anti-thyroid stimulating hormone receptor (TSHR), Rabbit-Poly 100μg
40-052-115001 Thyroid Stimulating Hormone (TSH) - Third-Generation TSH. Thyrotropin ELISA_Kits
996-50 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - Standard Grade 1 mg
996-50 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - Standard Grade 25 ug
996-50 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - Standard Grade 500 ug
996-51 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - High Purity 500 ug
996-51 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - High Purity 100 ug
996-51 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - High Purity 25 ug
996-50 Source Human Pituitary THYROID STIMULATING HORMONE, THYROTROPIN (TSH) - Standard Grade 100 ug
18-461-10029 Thyroid stimulating hormone receptor - N_A Polyclonal 0.05 ml
18-003-44273 Thyroid stimulating hormone receptor - N_A Polyclonal 0.1 mg Protein A
Y102445 Thyroid Stimulating Hormone Receptor (TSHR) 100 ul
E02T0536 Rat Thyroid stimulating hormone receptor antidoby 96 Tests/kit
E0870r Rat thyroid stimulating hormone receptor antidoby 96T
18-461-10361 Thyroid stimulating hormone receptor - N_A Polyclonal 0.05 ml
U0870r Rat thyroid stimulating hormone receptor antidoby 96T
18-461-10030 Thyroid stimulating hormone receptor - N_A Polyclonal 0.05 ml
E03T0536 Mouse Thyroid stimulating hormone receptor antidoby 96 Tests/kit
E01T0536 Human Thyroid stimulating hormone receptor antidoby 96 Tests/kit


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur