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Follitropin subunit beta (Follicle-stimulating hormone beta subunit) (FSH-B) (FSH-beta) (Follitropin beta chain)

 FSHB_HUMAN              Reviewed;         129 AA.
P01225; A2TF08; A5JVV3; Q14D61;
21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
01-OCT-1989, sequence version 2.
25-OCT-2017, entry version 185.
RecName: Full=Follitropin subunit beta;
AltName: Full=Follicle-stimulating hormone beta subunit;
Short=FSH-B;
Short=FSH-beta;
AltName: Full=Follitropin beta chain;
Flags: Precursor;
Name=FSHB;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2885163; DOI=10.1089/dna.1987.6.205;
Watkins P.C., Eddy R., Beck A.K., Vellucci V., Leverone B.,
Tanzi R.E., Gusella J.F., Shows T.B.;
"DNA sequence and regional assignment of the human follicle-
stimulating hormone beta-subunit gene to the short arm of human
chromosome 11.";
DNA 6:205-212(1987).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2494176;
Keene J.L., Matzuk M.M., Otani T., Fauser B.C.J.M., Galway A.B.,
Hsueh A.J.W., Boime I.;
"Expression of biologically active human follitropin in Chinese
hamster ovary cells.";
J. Biol. Chem. 264:4769-4775(1989).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=3139991; DOI=10.1210/mend-2-9-806;
Jameson J.L., Becker C.B., Lindell C.M., Habener J.F.;
"Human follicle-stimulating hormone beta-subunit gene encodes multiple
messenger ribonucleic acids.";
Mol. Endocrinol. 2:806-815(1988).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Akbari Eidgahi M.R., Shaebani A.A., Nasr R.;
"Follicle-stimulating hormone (FSHB) beta subunit genes.";
Submitted (AUG-2007) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
[8]
PROTEIN SEQUENCE OF 19-129.
PubMed=3151250; DOI=10.1007/BF01024882;
Shome B., Parlow A.F., Liu W.K., Nahm H.S., Wen T., Ward D.N.;
"A reevaluation of the amino acid sequence of human follitropin beta-
subunit.";
J. Protein Chem. 7:325-339(1988).
[9]
PRELIMINARY PROTEIN SEQUENCE OF 19-129.
PubMed=1249074;
Saxena B.B., Rathnam P.;
"Amino acid sequence of the beta subunit of follicle-stimulating
hormone from human pituitary glands.";
J. Biol. Chem. 251:993-1005(1976).
[10]
PRELIMINARY PROTEIN SEQUENCE OF 19-129.
PubMed=4835136; DOI=10.1210/jcem-39-1-203;
Shome B., Parlow A.F.;
"Human follicle stimulating hormone: first proposal for the amino acid
sequence of the hormone-specific, beta subunit (hFSHb).";
J. Clin. Endocrinol. Metab. 39:203-205(1974).
[11]
PRELIMINARY ASSIGNMENT OF DISULFIDE BONDS.
PubMed=6774759; DOI=10.1016/0005-2795(80)90084-7;
Fujiki Y., Rathnam P., Saxena B.B.;
"Studies on the disulfide bonds in human pituitary follicle-
stimulating hormone.";
Biochim. Biophys. Acta 624:428-435(1980).
[12]
DISULFIDE BONDS.
PubMed=11501762; DOI=10.1515/BC.2001.120;
Amoresano A., Orru S., Siciliano R.A., De Luca E., Napoleoni R.,
Sirna A., Pucci P.;
"Assignment of the complete disulphide bridge pattern in the human
recombinant follitropin beta-chain.";
Biol. Chem. 382:961-968(2001).
[13]
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF MUTANT ALA-27.
PubMed=11222739; DOI=10.1210/mend.15.3.0603;
Fox K.M., Dias J.A., Van Roey P.;
"Three-dimensional structure of human follicle-stimulating hormone.";
Mol. Endocrinol. 15:378-389(2001).
[14]
X-RAY CRYSTALLOGRAPHY (2.92 ANGSTROMS) OF 19-129 IN COMPLEX WITH CGA
AND FSHR, DISULFIDE BONDS, AND GLYCOSYLATION AT ASN-25 AND ASN-42.
PubMed=15662415; DOI=10.1038/nature03206;
Fan Q.R., Hendrickson W.A.;
"Structure of human follicle-stimulating hormone in complex with its
receptor.";
Nature 433:269-277(2005).
[15]
INVOLVEMENT IN HH24.
PubMed=8220432; DOI=10.1038/ng0993-83;
Matthews C.H., Borgato S., Beck-Peccoz P., Adams M., Tone Y.,
Gambino G., Casagrande S., Tedeschini G., Benedetti A.,
Chatterjee V.K.K.;
"Primary amenorrhoea and infertility due to a mutation in the beta-
subunit of follicle-stimulating hormone.";
Nat. Genet. 5:83-86(1993).
[16]
VARIANT HH24 GLY-69.
PubMed=9271483; DOI=10.1056/NEJM199708283370905;
Layman L.C., Lee E.-J., Peak D.B., Namnoum A.B., Vu K.V.,
van Lingen B.L., Gray M.R., McDonough P.G., Reindollar R.H.,
Jameson J.L.;
"Delayed puberty and hypogonadism caused by mutations in the follicle-
stimulating hormone beta-subunit gene.";
N. Engl. J. Med. 337:607-611(1997).
[17]
INVOLVEMENT IN HH24.
PubMed=9280841; DOI=10.1056/NEJM199708283370918;
Matthews C., Chatterjee V.K.;
"Isolated deficiency of follicle-stimulating hormone re-revisited.";
N. Engl. J. Med. 337:642-642(1997).
[18]
VARIANT ILE-20.
PubMed=10391209; DOI=10.1038/10290;
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions
of human genes.";
Nat. Genet. 22:231-238(1999).
[19]
ERRATUM.
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
-!- FUNCTION: Stimulates development of follicle and spermatogenesis
in the reproductive organs.
-!- SUBUNIT: Heterodimer of a common alpha chain and a unique beta
chain which confers biological specificity to thyrotropin,
lutropin, follitropin and gonadotropin.
{ECO:0000269|PubMed:15662415}.
-!- INTERACTION:
P01215:CGA; NbExp=4; IntAct=EBI-1030645, EBI-718913;
-!- SUBCELLULAR LOCATION: Secreted.
-!- DISEASE: Hypogonadotropic hypogonadism 24 without anosmia (HH24)
[MIM:229070]: A form of hypogonadotropic hypogonadism, a group of
disorders characterized by absent or incomplete sexual maturation
by the age of 18 years, in conjunction with low levels of
circulating gonadotropins and testosterone and no other
abnormalities of the hypothalamic-pituitary axis. HH24 is
characterized by primary amenorrhea in women, oligo or azoospermia
with low to normal testosterone levels in men, and infertility.
{ECO:0000269|PubMed:8220432, ECO:0000269|PubMed:9271483,
ECO:0000269|PubMed:9280841}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- PHARMACEUTICAL: Available under the names Gonal-F or Metrodin HP
(Serono) and Puregon (Organon). Used in the treatment of
infertility in women with proven hypopituitarism or who have not
responded to clomifene; or in superovulation treatment for
assisted conception (such as in vitro fertilization). Metrodin HP
is also used in the treatment of hypogonadotrophic hypogonadism in
men for the stimulation of spermatogenesis.
-!- SIMILARITY: Belongs to the glycoprotein hormones subunit beta
family. {ECO:0000305}.
-!- 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=FSHB";
-!- WEB RESOURCE: Name=Wikipedia; Note=Follicle-stimulating hormone
entry;
URL="https://en.wikipedia.org/wiki/Follicle_stimulating_hormone";
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; M16647; AAA52476.1; -; Genomic_DNA.
EMBL; M16646; AAA52476.1; JOINED; Genomic_DNA.
EMBL; M24540; AAA52470.1; -; Genomic_DNA.
EMBL; M24539; AAA52470.1; JOINED; Genomic_DNA.
EMBL; M54914; AAB02868.1; -; Genomic_DNA.
EMBL; M54913; AAB02868.1; JOINED; Genomic_DNA.
EMBL; EF198021; ABM88373.1; -; Genomic_DNA.
EMBL; EF585489; ABQ57401.1; -; mRNA.
EMBL; EF585490; ABQ57402.1; -; Genomic_DNA.
EMBL; EU081884; ABU96749.1; -; Genomic_DNA.
EMBL; EU081885; ABU96750.1; -; Genomic_DNA.
EMBL; AL358944; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471064; EAW68260.1; -; Genomic_DNA.
EMBL; BC113488; AAI13489.1; -; mRNA.
EMBL; BC113490; AAI13491.1; -; mRNA.
CCDS; CCDS7868.1; -.
PIR; A40920; FTHUB.
RefSeq; NP_000501.1; NM_000510.2.
RefSeq; NP_001018090.1; NM_001018080.1.
UniGene; Hs.36975; -.
PDB; 1FL7; X-ray; 3.00 A; B/D=19-129.
PDB; 1XWD; X-ray; 2.92 A; B/E=19-129.
PDB; 4AY9; X-ray; 2.50 A; B/E/H=19-129.
PDB; 4MQW; X-ray; 2.90 A; B/E/H=19-129.
PDBsum; 1FL7; -.
PDBsum; 1XWD; -.
PDBsum; 4AY9; -.
PDBsum; 4MQW; -.
ProteinModelPortal; P01225; -.
SMR; P01225; -.
BioGrid; 108766; 1.
DIP; DIP-35604N; -.
ELM; P01225; -.
IntAct; P01225; 3.
STRING; 9606.ENSP00000254122; -.
iPTMnet; P01225; -.
PhosphoSitePlus; P01225; -.
UniCarbKB; P01225; -.
BioMuta; FSHB; -.
DMDM; 120552; -.
PaxDb; P01225; -.
PeptideAtlas; P01225; -.
PRIDE; P01225; -.
DNASU; 2488; -.
Ensembl; ENST00000254122; ENSP00000254122; ENSG00000131808.
Ensembl; ENST00000417547; ENSP00000416606; ENSG00000131808.
Ensembl; ENST00000533718; ENSP00000433424; ENSG00000131808.
GeneID; 2488; -.
KEGG; hsa:2488; -.
UCSC; uc001msl.4; human.
CTD; 2488; -.
DisGeNET; 2488; -.
EuPathDB; HostDB:ENSG00000131808.10; -.
GeneCards; FSHB; -.
HGNC; HGNC:3964; FSHB.
HPA; CAB023410; -.
HPA; HPA069703; -.
MalaCards; FSHB; -.
MIM; 136530; gene.
MIM; 229070; phenotype.
neXtProt; NX_P01225; -.
OpenTargets; ENSG00000131808; -.
Orphanet; 52901; Isolated follicle stimulating hormone deficiency.
PharmGKB; PA28382; -.
eggNOG; ENOG410IWHY; Eukaryota.
eggNOG; ENOG4111ZSU; LUCA.
GeneTree; ENSGT00390000010115; -.
HOGENOM; HOG000116098; -.
HOVERGEN; HBG006698; -.
InParanoid; P01225; -.
KO; K05250; -.
OMA; AVEKEEC; -.
OrthoDB; EOG091G0XFH; -.
PhylomeDB; P01225; -.
TreeFam; TF332940; -.
Reactome; R-HSA-209822; Glycoprotein hormones.
Reactome; R-HSA-375281; Hormone ligand-binding receptors.
Reactome; R-HSA-418555; G alpha (s) signalling events.
SABIO-RK; P01225; -.
SIGNOR; P01225; -.
EvolutionaryTrace; P01225; -.
GeneWiki; FSHB; -.
GenomeRNAi; 2488; -.
PRO; PR:P01225; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000131808; -.
CleanEx; HS_FSHB; -.
ExpressionAtlas; P01225; baseline and differential.
Genevisible; P01225; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005615; C:extracellular space; IBA:GO_Central.
GO; GO:0016913; F:follicle-stimulating hormone activity; IMP:AgBase.
GO; GO:0005179; F:hormone activity; TAS:ProtInc.
GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
GO; GO:0007292; P:female gamete generation; TAS:ProtInc.
GO; GO:0007565; P:female pregnancy; TAS:ProtInc.
GO; GO:0042699; P:follicle-stimulating hormone signaling pathway; IBA:GO_Central.
GO; GO:0009755; P:hormone-mediated signaling pathway; IBA:GO_Central.
GO; GO:0016486; P:peptide hormone processing; TAS:Reactome.
GO; GO:0045780; P:positive regulation of bone resorption; IEA:Ensembl.
GO; GO:0030335; P:positive regulation of cell migration; NAS:BHF-UCL.
GO; GO:0008284; P:positive regulation of cell proliferation; NAS:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; NAS:BHF-UCL.
GO; GO:0006701; P:progesterone biosynthetic process; TAS:BHF-UCL.
GO; GO:0045670; P:regulation of osteoclast differentiation; IEA:Ensembl.
GO; GO:0060011; P:Sertoli cell proliferation; IEA:Ensembl.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; IEP:BHF-UCL.
CDD; cd00069; GHB_like; 1.
Gene3D; 2.10.90.10; -; 1.
InterPro; IPR029034; Cystine-knot_cytokine.
InterPro; IPR006208; Glyco_hormone_CN.
InterPro; IPR001545; Gonadotropin_bsu.
InterPro; IPR018245; Gonadotropin_bsu_CS.
PANTHER; PTHR11515; PTHR11515; 1.
Pfam; PF00007; Cys_knot; 1.
SMART; SM00068; GHB; 1.
SUPFAM; SSF57501; SSF57501; 1.
PROSITE; PS00261; GLYCO_HORMONE_BETA_1; 1.
PROSITE; PS00689; GLYCO_HORMONE_BETA_2; 1.
1: Evidence at protein level;
3D-structure; Complete proteome; Direct protein sequencing;
Disease mutation; Disulfide bond; Glycoprotein; Hormone;
Hypogonadotropic hypogonadism; Pharmaceutical; Polymorphism;
Reference proteome; Secreted; Signal.
SIGNAL 1 18 {ECO:0000269|PubMed:3151250}.
CHAIN 19 129 Follitropin subunit beta.
/FTId=PRO_0000011711.
CARBOHYD 25 25 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:15662415,
ECO:0000269|PubMed:4835136}.
CARBOHYD 42 42 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:15662415,
ECO:0000269|PubMed:4835136}.
DISULFID 21 69
DISULFID 35 84
DISULFID 38 122
DISULFID 46 100
DISULFID 50 102
DISULFID 105 112
VARIANT 20 20 S -> I (in dbSNP:rs6170).
{ECO:0000269|PubMed:10391209}.
/FTId=VAR_012047.
VARIANT 69 69 C -> G (in HH24; dbSNP:rs5030776).
{ECO:0000269|PubMed:9271483}.
/FTId=VAR_033015.
STRAND 21 32 {ECO:0000244|PDB:4AY9}.
HELIX 33 35 {ECO:0000244|PDB:4AY9}.
STRAND 37 53 {ECO:0000244|PDB:4AY9}.
STRAND 68 81 {ECO:0000244|PDB:4AY9}.
STRAND 85 87 {ECO:0000244|PDB:4MQW}.
STRAND 90 103 {ECO:0000244|PDB:4AY9}.
TURN 107 109 {ECO:0000244|PDB:4AY9}.
STRAND 110 114 {ECO:0000244|PDB:4AY9}.
SEQUENCE 129 AA; 14700 MW; 9D2AF00DD76B8E2B CRC64;
MKTLQFFFLF CCWKAICCNS CELTNITIAI EKEECRFCIS INTTWCAGYC YTRDLVYKDP
ARPKIQKTCT FKELVYETVR VPGCAHHADS LYTYPVATQC HCGKCDSDST DCTVRGLGPS
YCSFGEMKE


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Genprice Inc, Invoices and accounting
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