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Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter)

 S12A3_HUMAN             Reviewed;        1021 AA.
P55017; A8MSJ2; C9JNN9;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
30-NOV-2010, sequence version 3.
10-OCT-2018, entry version 178.
RecName: Full=Solute carrier family 12 member 3;
AltName: Full=Na-Cl cotransporter;
Short=NCC;
AltName: Full=Na-Cl symporter;
AltName: Full=Thiazide-sensitive sodium-chloride cotransporter;
Name=SLC12A3; Synonyms=NCC, TSC;
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 2), VARIANTS GTLMNS TRP-209;
GLY-264; LEU-349; ARG-421; ASN-486; CYS-496; SER-561 DEL; VAL-588;
VAL-630; HIS-655; LEU-655; ARG-741; PRO-850 AND GLN-955, VARIANT
THR-728, AND FUNCTION.
PubMed=8528245; DOI=10.1038/ng0196-24;
Simon D.B., Nelson-Williams C., Bia M.J., Ellison D., Karet F.E.,
Molina A.M., Vaara I., Iwata F., Cushner H.M., Koolen M., Gainza F.J.,
Gitelman H.J., Lifton R.P.;
"Gitelman's variant of Bartter's syndrome, inherited hypokalaemic
alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl
cotransporter.";
Nat. Genet. 12:24-30(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-264, AND TISSUE
SPECIFICITY.
TISSUE=Kidney;
PubMed=8812482; DOI=10.1006/geno.1996.0388;
Mastroianni N., de Fusco M., Zollo M., Arrigo G., Zuffardi O.,
Bettinelli A., Ballabio A., Casari G.;
"Molecular cloning, expression pattern, and chromosomal localization
of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).";
Genomics 35:486-493(1996).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
GLY-264.
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15616553; DOI=10.1038/nature03187;
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X.,
Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A.,
Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.,
Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L.,
Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A.,
Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D.,
Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J.,
Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I.,
Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W.,
Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A.,
Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S.,
Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L.,
Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A.,
Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L.,
Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N.,
Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M.,
Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L.,
Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D.,
Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P.,
Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M.,
Rubin E.M., Pennacchio L.A.;
"The sequence and analysis of duplication-rich human chromosome 16.";
Nature 432:988-994(2004).
[5]
FUNCTION, AND ACTIVITY REGULATION.
PubMed=21613606; DOI=10.1152/ajpcell.00070.2011;
Cruz-Rangel S., Melo Z., Vazquez N., Meade P., Bobadilla N.A.,
Pasantes-Morales H., Gamba G., Mercado A.;
"Similar Effects of all WNK3 Variants upon SLC12 Cotransporters.";
Am. J. Physiol. 301:C601-C608(2011).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-91, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[7]
TISSUE SPECIFICITY, AND CHARACTERIZATION OF VARIANTS GTLMNS ASP-121;
SER-439; CYS-475 AND ARG-1021.
PubMed=26099046; DOI=10.1038/nm.3890;
Wang J., Sun C., Gerdes N., Liu C., Liao M., Liu J., Shi M.A., He A.,
Zhou Y., Sukhova G.K., Chen H., Cheng X.W., Kuzuya M., Murohara T.,
Zhang J., Cheng X., Jiang M., Shull G.E., Rogers S., Yang C.L., Ke Q.,
Jelen S., Bindels R., Ellison D.H., Jarolim P., Libby P., Shi G.P.;
"Interleukin 18 function in atherosclerosis is mediated by the
interleukin 18 receptor and the Na-Cl co-transporter.";
Nat. Med. 21:820-826(2015).
[8]
VARIANTS GTLMNS ASN-62; ASP-186; TRP-209; LEU-349; SER-439; GLU-478;
ASN-486; CYS-496; PRO-542; VAL-588 AND ARG-731.
PubMed=8900229;
Mastroianni N., Bettinelli A., Bianchetti M., Colussi G., De Fusco M.,
Sereni F., Ballabio A., Casari G.;
"Novel molecular variants of the Na-Cl cotransporter gene are
responsible for Gitelman syndrome.";
Am. J. Hum. Genet. 59:1019-1026(1996).
[9]
INTERACTION WITH KLHL3, AND UBIQUITINATION.
PubMed=22406640; DOI=10.1038/ng.2218;
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S.,
Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O.,
Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F.,
Chabre O., Delahousse M., Esnault V., Fiquet B., Houillier P.,
Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P.,
Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S.,
Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J.,
Schott J.J., Jeunemaitre X.;
"KLHL3 mutations cause familial hyperkalemic hypertension by impairing
ion transport in the distal nephron.";
Nat. Genet. 44:456-460(2012).
[10]
VARIANT GTLMNS PRO-623.
PubMed=8954067; DOI=10.1210/jcem.81.12.8954067;
Takeuchi K., Kure S., Kato T., Taniyama Y., Takahashi N., Ikeda Y.,
Abe T., Narisawa K., Muramatsu Y., Abe K.;
"Association of a mutation in thiazide-sensitive Na-Cl cotransporter
with familial Gitelman's syndrome.";
J. Clin. Endocrinol. Metab. 81:4496-4499(1996).
[11]
VARIANTS GTLMNS TRP-209; PRO-215; THR-226; HIS-261; HIS-560; SER-613;
HIS-642; ARG-649; CYS-655; ARG-738; ARG-741; PRO-850 AND CYS-852, AND
VARIANTS GLN-904 AND CYS-919.
PubMed=9734597; DOI=10.1046/j.1523-1755.1998.00070.x;
Lemmink H.H., Knoers N.V.A.M., Karolyi L., van Dijk H., Niaudet P.,
Antignac C., Guay-Woodford L.M., Goodyer P.R., Carel J.-C., Hermes A.,
Seyberth H.W., Monnens L.A.H., van den Heuvel L.P.W.J.;
"Novel mutations in the thiazide-sensitive NaCl cotransporter gene in
patients with Gitelman syndrome with predominant localization to the
C-terminal domain.";
Kidney Int. 54:720-730(1998).
[12]
VARIANTS GTLMNS PRO-304; SER-439; ARG-731 AND ARG-741, AND VARIANT
GLN-904.
PubMed=10988270; DOI=10.1161/01.HYP.36.3.389;
Melander O., Orho-Melander M., Bengtsson K., Lindblad U., Rastam L.,
Groop L., Hulthen U.L.;
"Genetic variants of thiazide-sensitive NaCl-cotransporter in
Gitelman's syndrome and primary hypertension.";
Hypertension 36:389-394(2000).
[13]
VARIANTS GTLMNS LYS-180; GLU-569; MET-578; CYS-642 AND HIS-849.
PubMed=10616841;
Monkawa T., Kurihara I., Kobayashi K., Hayashi M., Saruta T.;
"Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of
patients with Gitelman's syndrome.";
J. Am. Soc. Nephrol. 11:65-70(2000).
[14]
VARIANTS GTLMNS PHE-154; LEU-178; GLN-209; ARG-284; VAL-313; TRP-321;
TRP-334; CYS-399; LEU-555; LEU-615; GLY-642; LEU-643 AND VAL-729.
PubMed=11168953; DOI=10.1046/j.1523-1755.2001.059002710.x;
Cruz D.N., Shaer A.J., Bia M.J., Lifton R.P., Simon D.B.;
"Gitelman's syndrome revisited: an evaluation of symptoms and health-
related quality of life.";
Kidney Int. 59:710-717(2001).
[15]
VARIANT GTLMNS LEU-643, AND VARIANT GLY-264.
PubMed=11940055; DOI=10.1046/j.1365-2265.2002.01223.x;
Pantanetti P., Arnaldi G., Balercia G., Mantero F., Giacchetti G.;
"Severe hypomagnesaemia-induced hypocalcaemia in a patient with
Gitelman's syndrome.";
Clin. Endocrinol. (Oxf.) 56:413-418(2002).
[16]
VARIANT GTLMNS PRO-623.
PubMed=12008755; DOI=10.1507/endocrj.49.91;
Tajima T., Kobayashi Y., Abe S., Takahashi M., Konno M., Nakae J.,
Okuhara K., Satoh K., Ishikawa T., Imai T., Fujieda K.;
"Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC)
gene in two sporadic Japanese patients with Gitelman syndrome.";
Endocr. J. 49:91-96(2002).
[17]
VARIANTS GTLMNS GLN-158; MET-163; ARG-172; TRP-209; VAL-316; VAL-374;
GLU-463; THR-464; LEU-615; TRP-615; GLY-642; HIS-642; MET-677;
CYS-852; SER-852; GLY-958 AND TYR-985, AND VARIANT GLN-904.
PubMed=12112667; DOI=10.1002/humu.9045;
Syren M.-L., Tedeschi S., Cesareo L., Bellantuono R., Colussi G.,
Procaccio M., Ali A., Domenici R., Malberti F., Sprocati M., Sacco M.,
Miglietti N., Edefonti A., Sereni F., Casari G., Coviello D.A.,
Bettinelli A.;
"Identification of fifteen novel mutations in the SLC12A3 gene
encoding the Na-Cl Co-transporter in Italian patients with Gitelman
syndrome.";
Hum. Mutat. 20:78-78(2002).
[18]
VARIANTS GTLMNS MET-60; VAL-569; CYS-642 AND HIS-849.
PubMed=15069170; DOI=10.1093/ndt/gfh239;
Maki N., Komatsuda A., Wakui H., Ohtani H., Kigawa A., Aiba N.,
Hamai K., Motegi M., Yamaguchi A., Imai H., Sawada K.;
"Four novel mutations in the thiazide-sensitive Na-Cl co-transporter
gene in Japanese patients with Gitelman's syndrome.";
Nephrol. Dial. Transplant. 19:1761-1766(2004).
[19]
VARIANTS GTLMNS TYR-90; TYR-283 AND HIS-871.
PubMed=15687331; DOI=10.1210/jc.2004-1905;
Lin S.-H., Shiang J.-C., Huang C.-C., Yang S.-S., Hsu Y.-J.,
Cheng C.-J.;
"Phenotype and genotype analysis in Chinese patients with Gitelman's
syndrome.";
J. Clin. Endocrinol. Metab. 90:2500-2507(2005).
[20]
VARIANT GTLMNS ILE-672.
PubMed=16429844;
Terui K., Shoji M., Yamashiki J., Hirai Y., Ishiguro A., Tsutaya S.,
Kageyama K., Yasujima M., Suda T.;
"A novel mutation of the thiazide-sensitive sodium chloride
cotransporter gene in a Japanese family with Gitelman syndrome.";
Clin. Nephrol. 65:57-60(2006).
[21]
VARIANTS GTLMNS LYS-68; ASN-69; HIS-145; MET-153; ASP-230; ALA-342;
LEU-677 AND SER-867.
PubMed=17654016; DOI=10.1080/10425170701400456;
Fava C., Montagnana M., Rosberg L., Burri P., Joensson A., Wanby P.,
Wahrenberg H., Hulthen U.L., Aurell M., Guidi G.C., Melander O.;
"Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in
Swedes.";
DNA Seq. 18:395-399(2007).
[22]
VARIANTS GTLMNS HIS-849 AND HIS-852.
PubMed=17873326; DOI=10.1007/s12020-007-0024-9;
Aoi N., Nakayama T., Tahira Y., Haketa A., Yabuki M., Sekiyama T.,
Nakane C., Mano H., Kawachi H., Sato N., Soma M., Matsumoto K.;
"Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter
(SLC12A3) gene in patients with Gitelman's syndrome.";
Endocrine 31:149-153(2007).
[23]
VARIANTS GLY-264; THR-728; GLN-904 AND CYS-919, AND CHARACTERIZATION
OF VARIANT CYS-919.
PubMed=17885550; DOI=10.1097/HJH.0b013e3282a9be1b;
Keszei A.P., Tisler A., Backx P.H., Andrulis I.L., Bull S.B.,
Logan A.G.;
"Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in
hypertensive families.";
J. Hypertens. 25:2074-2081(2007).
[24]
VARIANTS GTLMNS MET-60; HIS-62; GLN-83; TRP-83; ASP-121; CYS-135;
CYS-145; MET-150; MET-153; PRO-157; LEU-158; MET-163; VAL-166;
ARG-172; LEU-178; THR-192; ILE-194; GLN-209; ARG-235; ASN-259;
PRO-272; MET-304; PRO-304; VAL-313; TRP-321; TRP-334; GLU-374;
MET-382; ILE-392; CYS-399; 433-GLN--CYS-436 DELINS LEU; SER-439;
SER-442; ARG-463; THR-464; CYS-475; HIS-489; CYS-507; THR-523;
SER-534; LEU-536; GLY-546; LEU-555; ARG-560; ASN-566 DEL; LEU-615;
CYS-642; CYS-642; GLY-642; HIS-642; LEU-643; MET-647; HIS-655;
LYS-ALA-PHE-TYR-SER-ASP-VAL-ILE-713 INS; VAL-729; ARG-735; ARG-741;
LEU-751; THR-824; ASN-839; PHE-849; PRO-850; CYS-852; CYS-862;
THR-872; GLN-887; TRP-934; TRP-935; GLN-955; GLY-958; ARG-980;
TYR-985; GLN-1009 AND ARG-1021, CHARACTERIZATION OF VARIANT GTLMNS
ASP-121; ILE-392; SER-442; CYS-475; HIS-489; LEU-751 AND ARG-1021,
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=22009145; DOI=10.1038/ejhg.2011.189;
Glaudemans B., Yntema H.G., San-Cristobal P., Schoots J., Pfundt R.,
Kamsteeg E.J., Bindels R.J., Knoers N.V., Hoenderop J.G.,
Hoefsloot L.H.;
"Novel NCC mutants and functional analysis in a new cohort of patients
with Gitelman syndrome.";
Eur. J. Hum. Genet. 20:263-270(2012).
-!- FUNCTION: Electroneutral sodium and chloride ion cotransporter. In
kidney distal convoluted tubules, key mediator of sodium and
chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor
for the proinflammatory cytokine IL18. Contributes to IL18-induced
cytokine production, including IFNG, IL6, IL18 and CCL2. May act
either independently of IL18R1, or in a complex with IL18R1 (By
similarity). {ECO:0000250|UniProtKB:P59158,
ECO:0000269|PubMed:21613606, ECO:0000269|PubMed:22009145}.
-!- ACTIVITY REGULATION: Activated by WNK3.
{ECO:0000269|PubMed:21613606}.
-!- SUBUNIT: Interacts with KLHL3 (PubMed:22406640). Interacts with
IL18R1; this interaction is increased by IL18 treatment (By
similarity). {ECO:0000250|UniProtKB:P59158,
ECO:0000269|PubMed:22406640}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22009145};
Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P55017-1; Sequence=Displayed;
Name=2;
IsoId=P55017-2; Sequence=VSP_036318;
Name=3;
IsoId=P55017-3; Sequence=VSP_040100, VSP_036318;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Predominantly expressed in kidney
(PubMed:8812482). Not detected in normal aorta, but abundantly
expressed in fatty streaks and advanced atherosclerotic lesions
(at protein level) (PubMed:26099046).
{ECO:0000269|PubMed:26099046, ECO:0000269|PubMed:8812482}.
-!- PTM: Ubiquitinated; ubiquitination is essential for regulation of
endocytosis. The BCR(KLHL3) complex was initially identified as a
candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However,
it was later shown that it is not the case.
{ECO:0000269|PubMed:22406640}.
-!- PTM: Phosphorylated in response to IL18.
{ECO:0000250|UniProtKB:P59158}.
-!- DISEASE: Gitelman syndrome (GTLMNS) [MIM:263800]: An autosomal
recessive disorder characterized by hypokalemic alkalosis in
combination with hypomagnesemia, low urinary calcium, and
increased renin activity associated with normal blood pressure.
Patients are often asymptomatic or present transient periods of
muscular weakness and tetany, usually accompanied by abdominal
pain, vomiting and fever. The phenotype is highly heterogeneous in
terms of age at onset and severity. Cardinal features such as
hypocalciuria and hypomagnesemia might also change during the life
cycle of a given patient. It has overlapping features with Bartter
syndrome. {ECO:0000269|PubMed:10616841,
ECO:0000269|PubMed:10988270, ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:11940055, ECO:0000269|PubMed:12008755,
ECO:0000269|PubMed:12112667, ECO:0000269|PubMed:15069170,
ECO:0000269|PubMed:15687331, ECO:0000269|PubMed:16429844,
ECO:0000269|PubMed:17654016, ECO:0000269|PubMed:17873326,
ECO:0000269|PubMed:22009145, ECO:0000269|PubMed:26099046,
ECO:0000269|PubMed:8528245, ECO:0000269|PubMed:8900229,
ECO:0000269|PubMed:8954067, ECO:0000269|PubMed:9734597}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- MISCELLANEOUS: Target of thiazide diuretics used in the treatment
of high blood pressure. {ECO:0000305|PubMed:8528245}.
-!- SIMILARITY: Belongs to the SLC12A transporter family.
{ECO:0000305}.
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EMBL; U44128; AAC50355.1; -; mRNA.
EMBL; X91220; CAA62613.1; -; mRNA.
EMBL; AK315298; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; AC012181; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS10770.1; -. [P55017-2]
CCDS; CCDS45491.1; -. [P55017-3]
CCDS; CCDS58464.1; -. [P55017-1]
PIR; G01202; G01202.
PIR; PC4180; PC4180.
RefSeq; NP_000330.2; NM_000339.2.
RefSeq; NP_001119579.1; NM_001126107.1.
RefSeq; NP_001119580.1; NM_001126108.1.
UniGene; Hs.669115; -.
ProteinModelPortal; P55017; -.
BioGrid; 112448; 11.
ELM; P55017; -.
IntAct; P55017; 1.
STRING; 9606.ENSP00000402152; -.
ChEMBL; CHEMBL1876; -.
DrugBank; DB00436; Bendroflumethiazide.
DrugBank; DB00562; Benzthiazide.
DrugBank; DB00880; Chlorothiazide.
DrugBank; DB01119; Diazoxide.
DrugBank; DB00999; Hydrochlorothiazide.
DrugBank; DB00524; Metolazone.
DrugBank; DB01324; Polythiazide.
DrugBank; DB01325; Quinethazone.
TCDB; 2.A.30.1.12; the cation-chloride cotransporter (ccc) family.
iPTMnet; P55017; -.
PhosphoSitePlus; P55017; -.
BioMuta; SLC12A3; -.
DMDM; 313104194; -.
PaxDb; P55017; -.
PeptideAtlas; P55017; -.
PRIDE; P55017; -.
ProteomicsDB; 56759; -.
ProteomicsDB; 56760; -. [P55017-2]
ProteomicsDB; 56761; -. [P55017-3]
DNASU; 6559; -.
Ensembl; ENST00000438926; ENSP00000402152; ENSG00000070915. [P55017-2]
Ensembl; ENST00000563236; ENSP00000456149; ENSG00000070915. [P55017-1]
Ensembl; ENST00000566786; ENSP00000457552; ENSG00000070915. [P55017-3]
GeneID; 6559; -.
KEGG; hsa:6559; -.
UCSC; uc002ekd.4; human. [P55017-1]
CTD; 6559; -.
DisGeNET; 6559; -.
EuPathDB; HostDB:ENSG00000070915.9; -.
GeneCards; SLC12A3; -.
HGNC; HGNC:10912; SLC12A3.
HPA; HPA028748; -.
MalaCards; SLC12A3; -.
MIM; 263800; phenotype.
MIM; 600968; gene.
neXtProt; NX_P55017; -.
OpenTargets; ENSG00000070915; -.
Orphanet; 358; Gitelman syndrome.
PharmGKB; PA321; -.
eggNOG; KOG2083; Eukaryota.
eggNOG; COG0531; LUCA.
GeneTree; ENSGT00760000119053; -.
HOGENOM; HOG000062855; -.
HOVERGEN; HBG052851; -.
InParanoid; P55017; -.
KO; K14426; -.
OMA; QLYPLIG; -.
OrthoDB; EOG091G04G2; -.
PhylomeDB; P55017; -.
TreeFam; TF313191; -.
Reactome; R-HSA-426117; Cation-coupled Chloride cotransporters.
Reactome; R-HSA-5619087; Defective SLC12A3 causes Gitelman syndrome (GS).
SIGNOR; P55017; -.
ChiTaRS; SLC12A3; human.
GeneWiki; Sodium-chloride_symporter; -.
GenomeRNAi; 6559; -.
PRO; PR:P55017; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000070915; Expressed in 58 organ(s), highest expression level in adult mammalian kidney.
CleanEx; HS_SLC12A3; -.
ExpressionAtlas; P55017; baseline and differential.
Genevisible; P55017; HS.
GO; GO:0016324; C:apical plasma membrane; IDA:MGI.
GO; GO:0005829; C:cytosol; IEA:Ensembl.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0016020; C:membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0015378; F:sodium:chloride symporter activity; TAS:Reactome.
GO; GO:0005215; F:transporter activity; ISS:UniProtKB.
GO; GO:0006811; P:ion transport; TAS:Reactome.
GO; GO:0035725; P:sodium ion transmembrane transport; ISS:BHF-UCL.
GO; GO:0006814; P:sodium ion transport; ISS:UniProtKB.
InterPro; IPR004841; AA-permease/SLC12A_dom.
InterPro; IPR013612; AA_permease_N.
InterPro; IPR018491; SLC12_C.
InterPro; IPR002948; SLC12A3.
InterPro; IPR004842; SLC12A_fam.
PANTHER; PTHR11827:SF9; PTHR11827:SF9; 1.
Pfam; PF00324; AA_permease; 1.
Pfam; PF08403; AA_permease_N; 1.
Pfam; PF03522; SLC12; 2.
PRINTS; PR01230; NACLTRNSPORT.
TIGRFAMs; TIGR00930; 2a30; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Chloride; Complete proteome;
Disease mutation; Glycoprotein; Ion transport; Membrane;
Phosphoprotein; Polymorphism; Reference proteome; Sodium;
Sodium transport; Symport; Transmembrane; Transmembrane helix;
Transport; Ubl conjugation.
CHAIN 1 1021 Solute carrier family 12 member 3.
/FTId=PRO_0000178026.
TOPO_DOM 1 135 Cytoplasmic. {ECO:0000255}.
TRANSMEM 136 156 Helical. {ECO:0000255}.
TRANSMEM 159 179 Helical. {ECO:0000255}.
TOPO_DOM 180 218 Cytoplasmic. {ECO:0000255}.
TRANSMEM 219 239 Helical. {ECO:0000255}.
TRANSMEM 262 282 Helical. {ECO:0000255}.
TOPO_DOM 283 286 Cytoplasmic. {ECO:0000255}.
TRANSMEM 287 307 Helical. {ECO:0000255}.
TRANSMEM 340 360 Helical. {ECO:0000255}.
TOPO_DOM 361 377 Cytoplasmic. {ECO:0000255}.
TRANSMEM 378 398 Helical. {ECO:0000255}.
TRANSMEM 453 473 Helical. {ECO:0000255}.
TOPO_DOM 474 511 Cytoplasmic. {ECO:0000255}.
TRANSMEM 512 532 Helical. {ECO:0000255}.
TRANSMEM 535 555 Helical. {ECO:0000255}.
TOPO_DOM 556 577 Cytoplasmic. {ECO:0000255}.
TRANSMEM 578 598 Helical. {ECO:0000255}.
TRANSMEM 661 681 Helical. {ECO:0000255}.
TOPO_DOM 682 1021 Cytoplasmic. {ECO:0000255}.
MOD_RES 43 43 Phosphoserine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 49 49 Phosphoserine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 50 50 Phosphothreonine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 55 55 Phosphothreonine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 60 60 Phosphothreonine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 73 73 Phosphoserine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 91 91 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 124 124 Phosphothreonine.
{ECO:0000250|UniProtKB:P59158}.
MOD_RES 126 126 Phosphoserine.
{ECO:0000250|UniProtKB:P59158}.
CARBOHYD 406 406 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 426 426 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 95 95 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_040100.
VAR_SEQ 807 807 V -> GARPSVSGAL (in isoform 2 and isoform
3). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:8528245}.
/FTId=VSP_036318.
VARIANT 60 60 T -> M (in GTLMNS; dbSNP:rs371443644).
{ECO:0000269|PubMed:15069170,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039475.
VARIANT 62 62 D -> H (in GTLMNS; dbSNP:rs757490496).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075931.
VARIANT 62 62 D -> N (in GTLMNS).
{ECO:0000269|PubMed:8900229}.
/FTId=VAR_039476.
VARIANT 68 68 E -> K (in GTLMNS; dbSNP:rs763210286).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039477.
VARIANT 69 69 H -> N (in GTLMNS; dbSNP:rs780502516).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039478.
VARIANT 83 83 R -> Q (in GTLMNS; dbSNP:rs768527231).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075932.
VARIANT 83 83 R -> W (in GTLMNS; dbSNP:rs201255508).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075933.
VARIANT 90 90 H -> Y (in GTLMNS).
{ECO:0000269|PubMed:15687331}.
/FTId=VAR_039479.
VARIANT 121 121 E -> D (in GTLMNS; 27% residual Na(+)
uptake activity; increased MAPK1/3 (ERK1/
2) phosphorylation in response to IL18;
no effect on localization at the plasma
membrane; dbSNP:rs146632606).
{ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:26099046}.
/FTId=VAR_075934.
VARIANT 135 135 R -> C (in GTLMNS; dbSNP:rs749742102).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075935.
VARIANT 145 145 R -> C (in GTLMNS; dbSNP:rs148945966).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075936.
VARIANT 145 145 R -> H (in GTLMNS; dbSNP:rs374324018).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039480.
VARIANT 150 150 I -> M (in GTLMNS; dbSNP:rs143714318).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075937.
VARIANT 153 153 V -> M (in GTLMNS; dbSNP:rs779074538).
{ECO:0000269|PubMed:17654016,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039481.
VARIANT 154 154 I -> F (in GTLMNS; dbSNP:rs748547209).
{ECO:0000269|PubMed:11168953}.
/FTId=VAR_039482.
VARIANT 157 157 L -> P (in GTLMNS; dbSNP:rs775047246).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075938.
VARIANT 158 158 R -> L (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075939.
VARIANT 158 158 R -> Q (in GTLMNS; dbSNP:rs1274973729).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039483.
VARIANT 163 163 T -> M (in GTLMNS; dbSNP:rs267607050).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039484.
VARIANT 166 166 A -> V (in GTLMNS; dbSNP:rs779683214).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075940.
VARIANT 172 172 W -> R (in GTLMNS; dbSNP:rs757792232).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039485.
VARIANT 178 178 S -> L (in GTLMNS; dbSNP:rs772589653).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039486.
VARIANT 180 180 T -> K (in GTLMNS; dbSNP:rs146158333).
{ECO:0000269|PubMed:10616841}.
/FTId=VAR_039487.
VARIANT 186 186 G -> D (in GTLMNS; dbSNP:rs759426055).
{ECO:0000269|PubMed:8900229}.
/FTId=VAR_039488.
VARIANT 192 192 I -> T (in GTLMNS; associated with
deletion of N-566; dbSNP:rs1231715433).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075941.
VARIANT 194 194 T -> I (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075942.
VARIANT 209 209 R -> Q (in GTLMNS; dbSNP:rs758035631).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039489.
VARIANT 209 209 R -> W (in GTLMNS; dbSNP:rs28936388).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8900229,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_007113.
VARIANT 215 215 L -> P (in GTLMNS; dbSNP:rs780594361).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039490.
VARIANT 226 226 A -> T (in GTLMNS; dbSNP:rs774753202).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039491.
VARIANT 230 230 G -> D (in GTLMNS; dbSNP:rs375990084).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039492.
VARIANT 235 235 T -> R (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075943.
VARIANT 259 259 D -> N (in GTLMNS; dbSNP:rs780461639).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075944.
VARIANT 261 261 R -> H (in GTLMNS; dbSNP:rs914588619).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039493.
VARIANT 264 264 A -> G (in dbSNP:rs1529927).
{ECO:0000269|PubMed:11940055,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:17885550,
ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8812482}.
/FTId=VAR_039494.
VARIANT 272 272 L -> P (in GTLMNS; dbSNP:rs568513106).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075945.
VARIANT 283 283 S -> Y (in GTLMNS).
{ECO:0000269|PubMed:15687331}.
/FTId=VAR_039495.
VARIANT 284 284 K -> R (in GTLMNS).
{ECO:0000269|PubMed:11168953}.
/FTId=VAR_039496.
VARIANT 304 304 T -> M (in GTLMNS; dbSNP:rs755069436).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075946.
VARIANT 304 304 T -> P (in GTLMNS; dbSNP:rs753840283).
{ECO:0000269|PubMed:10988270,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039497.
VARIANT 313 313 A -> V (in GTLMNS; dbSNP:rs140551719).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039498.
VARIANT 316 316 G -> V (in GTLMNS; dbSNP:rs748920885).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039499.
VARIANT 321 321 R -> W (in GTLMNS; dbSNP:rs150046661).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039500.
VARIANT 334 334 R -> W (in GTLMNS; dbSNP:rs770702194).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039501.
VARIANT 342 342 G -> A (in GTLMNS).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039502.
VARIANT 349 349 P -> L (in GTLMNS; dbSNP:rs121909383).
{ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_007114.
VARIANT 374 374 G -> E (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075947.
VARIANT 374 374 G -> V (in GTLMNS; dbSNP:rs773669504).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039503.
VARIANT 382 382 T -> M (in GTLMNS; dbSNP:rs187885782).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075948.
VARIANT 392 392 T -> I (in GTLMNS; complete loss Na(+)
uptake activity; partial loss of
localization at the plasma membrane;
dbSNP:rs748575829).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075949.
VARIANT 399 399 R -> C (in GTLMNS; dbSNP:rs775931992).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039504.
VARIANT 421 421 C -> R (in GTLMNS; dbSNP:rs28936387).
{ECO:0000269|PubMed:8528245}.
/FTId=VAR_007115.
VARIANT 433 436 QHSC -> L (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075950.
VARIANT 439 439 G -> S (in GTLMNS; does not affect MAPK1/
3 (ERK1/2) phosphorylation in response to
IL18; dbSNP:rs759377924).
{ECO:0000269|PubMed:10988270,
ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:26099046,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_039505.
VARIANT 442 442 N -> S (in GTLMNS; 68% residual Na(+)
uptake activity; partial loss of
localization at the plasma membrane).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075951.
VARIANT 463 463 G -> E (in GTLMNS).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039506.
VARIANT 463 463 G -> R (in GTLMNS; dbSNP:rs374163823).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075952.
VARIANT 464 464 A -> T (in GTLMNS; dbSNP:rs201945662).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039507.
VARIANT 475 475 S -> C (in GTLMNS; 40% residual Na(+)
uptake activity; increased MAPK1/3 (ERK1/
2) phosphorylation in response to IL18;
no effect on localization at the plasma
membrane; dbSNP:rs373017321).
{ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:26099046}.
/FTId=VAR_075953.
VARIANT 478 478 K -> E (in GTLMNS).
{ECO:0000269|PubMed:8900229}.
/FTId=VAR_039508.
VARIANT 486 486 D -> N (in GTLMNS; dbSNP:rs753523115).
{ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_007116.
VARIANT 489 489 Y -> H (in GTLMNS; 48% residual Na(+)
uptake activity; no effect on
localization at the plasma membrane).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075954.
VARIANT 496 496 G -> C (in GTLMNS; dbSNP:rs777612082).
{ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_007117.
VARIANT 507 507 R -> C (in GTLMNS; dbSNP:rs369510226).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075955.
VARIANT 523 523 A -> T (in GTLMNS; dbSNP:rs781137708).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075956.
VARIANT 534 534 N -> S (in GTLMNS; dbSNP:rs780433336).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075957.
VARIANT 536 536 F -> L (in GTLMNS; dbSNP:rs748650798).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075958.
VARIANT 542 542 L -> P (in GTLMNS; dbSNP:rs574357286).
{ECO:0000269|PubMed:8900229}.
/FTId=VAR_039509.
VARIANT 546 546 S -> G (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075959.
VARIANT 555 555 S -> L (in GTLMNS; dbSNP:rs148038173).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039510.
VARIANT 560 560 P -> H (in GTLMNS).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039511.
VARIANT 560 560 P -> R (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075960.
VARIANT 561 561 Missing (in GTLMNS).
{ECO:0000269|PubMed:8528245}.
/FTId=VAR_007118.
VARIANT 566 566 Missing (in GTLMNS; associated with T-
192). {ECO:0000269|PubMed:22009145}.
/FTId=VAR_075961.
VARIANT 569 569 A -> E (in GTLMNS).
{ECO:0000269|PubMed:10616841}.
/FTId=VAR_039512.
VARIANT 569 569 A -> V (in GTLMNS; dbSNP:rs79351185).
{ECO:0000269|PubMed:15069170}.
/FTId=VAR_039513.
VARIANT 578 578 V -> M (in GTLMNS; dbSNP:rs139329616).
{ECO:0000269|PubMed:10616841}.
/FTId=VAR_039514.
VARIANT 588 588 A -> V (in GTLMNS; dbSNP:rs121909382).
{ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_007119.
VARIANT 613 613 G -> S (in GTLMNS; dbSNP:rs1222807128).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039515.
VARIANT 615 615 S -> L (in GTLMNS; dbSNP:rs779160677).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039516.
VARIANT 615 615 S -> W (in GTLMNS; dbSNP:rs779160677).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039517.
VARIANT 623 623 L -> P (in GTLMNS; dbSNP:rs121909385).
{ECO:0000269|PubMed:12008755,
ECO:0000269|PubMed:8954067}.
/FTId=VAR_039518.
VARIANT 630 630 G -> V (in GTLMNS; dbSNP:rs121909384).
{ECO:0000269|PubMed:8528245}.
/FTId=VAR_007120.
VARIANT 642 642 R -> C (in GTLMNS; dbSNP:rs200697179).
{ECO:0000269|PubMed:10616841,
ECO:0000269|PubMed:15069170,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039519.
VARIANT 642 642 R -> G (in GTLMNS; dbSNP:rs200697179).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039520.
VARIANT 642 642 R -> H (in GTLMNS; dbSNP:rs147901432).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_039521.
VARIANT 643 643 P -> L (in GTLMNS; dbSNP:rs140012781).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:11940055,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039522.
VARIANT 647 647 V -> M (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075962.
VARIANT 649 649 T -> R (in GTLMNS).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039523.
VARIANT 655 655 R -> C (in GTLMNS; dbSNP:rs747249619).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039524.
VARIANT 655 655 R -> H (in GTLMNS; dbSNP:rs121909380).
{ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:8528245}.
/FTId=VAR_007121.
VARIANT 655 655 R -> L (in GTLMNS; dbSNP:rs121909380).
{ECO:0000269|PubMed:8528245}.
/FTId=VAR_007122.
VARIANT 672 672 M -> I (in GTLMNS).
{ECO:0000269|PubMed:16429844}.
/FTId=VAR_039525.
VARIANT 677 677 V -> L (in GTLMNS).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039526.
VARIANT 677 677 V -> M (in GTLMNS; dbSNP:rs771326058).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039527.
VARIANT 713 713 I -> IKAFYSDVI (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075963.
VARIANT 728 728 A -> T (in dbSNP:rs36049418).
{ECO:0000269|PubMed:17885550,
ECO:0000269|PubMed:8528245}.
/FTId=VAR_007123.
VARIANT 729 729 G -> V (in GTLMNS; dbSNP:rs373901523).
{ECO:0000269|PubMed:11168953,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039528.
VARIANT 731 731 G -> R (in GTLMNS; dbSNP:rs752101663).
{ECO:0000269|PubMed:10988270,
ECO:0000269|PubMed:8900229}.
/FTId=VAR_039529.
VARIANT 735 735 P -> R (in GTLMNS; dbSNP:rs757761069).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075964.
VARIANT 738 738 L -> R (in GTLMNS).
{ECO:0000269|PubMed:9734597}.
/FTId=VAR_039530.
VARIANT 741 741 G -> R (in GTLMNS; dbSNP:rs138977195).
{ECO:0000269|PubMed:10988270,
ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_007124.
VARIANT 751 751 P -> L (in GTLMNS; 54% residual Na(+)
uptake activity; no effect on
localization at the plasma membrane;
dbSNP:rs368068353).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075965.
VARIANT 824 824 S -> T (in GTLMNS; dbSNP:rs146845953).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075966.
VARIANT 839 839 D -> N (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075967.
VARIANT 849 849 L -> F (in GTLMNS).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075968.
VARIANT 849 849 L -> H (in GTLMNS; dbSNP:rs185927948).
{ECO:0000269|PubMed:10616841,
ECO:0000269|PubMed:15069170,
ECO:0000269|PubMed:17873326}.
/FTId=VAR_039531.
VARIANT 850 850 L -> P (in GTLMNS; dbSNP:rs121909379).
{ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:8528245,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_007125.
VARIANT 852 852 R -> C (in GTLMNS; dbSNP:rs373899077).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_039532.
VARIANT 852 852 R -> H (in GTLMNS; dbSNP:rs751929135).
{ECO:0000269|PubMed:17873326}.
/FTId=VAR_039533.
VARIANT 852 852 R -> S (in GTLMNS).
{ECO:0000269|PubMed:12112667}.
/FTId=VAR_039534.
VARIANT 854 854 R -> K (in dbSNP:rs8060046).
/FTId=VAR_060106.
VARIANT 862 862 R -> C (in GTLMNS; dbSNP:rs754505583).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075969.
VARIANT 867 867 G -> S (in GTLMNS; dbSNP:rs370301695).
{ECO:0000269|PubMed:17654016}.
/FTId=VAR_039535.
VARIANT 871 871 R -> H (in GTLMNS).
{ECO:0000269|PubMed:15687331}.
/FTId=VAR_039536.
VARIANT 872 872 M -> T (in GTLMNS; dbSNP:rs752124879).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075970.
VARIANT 887 887 R -> Q (in GTLMNS; dbSNP:rs369360334).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075971.
VARIANT 904 904 R -> Q (in dbSNP:rs11643718).
{ECO:0000269|PubMed:10988270,
ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:17885550,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_039537.
VARIANT 919 919 R -> C (increases sodium transport;
dbSNP:rs12708965).
{ECO:0000269|PubMed:17885550,
ECO:0000269|PubMed:9734597}.
/FTId=VAR_039538.
VARIANT 934 934 R -> W (in GTLMNS; dbSNP:rs201721269).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075972.
VARIANT 935 935 R -> W (in GTLMNS; unknown pathological
significance; dbSNP:rs56125220).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075973.
VARIANT 955 955 R -> Q (in GTLMNS; dbSNP:rs202114767).
{ECO:0000269|PubMed:22009145,
ECO:0000269|PubMed:8528245}.
/FTId=VAR_007126.
VARIANT 958 958 R -> G (in GTLMNS; dbSNP:rs773428143).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039539.
VARIANT 980 980 G -> R (in GTLMNS; dbSNP:rs34803727).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075974.
VARIANT 985 985 C -> Y (in GTLMNS; dbSNP:rs199849117).
{ECO:0000269|PubMed:12112667,
ECO:0000269|PubMed:22009145}.
/FTId=VAR_039540.
VARIANT 1009 1009 R -> Q (in GTLMNS; dbSNP:rs370175770).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075975.
VARIANT 1021 1021 Q -> R (in GTLMNS; 58% residual Na(+)
uptake activity; decreased MAPK1/3 (ERK1/
2) phosphorylation in response to IL18;
partial loss of localization at the
plasma membrane; dbSNP:rs762026283).
{ECO:0000269|PubMed:22009145}.
/FTId=VAR_075976.
CONFLICT 459 460 AG -> VV (in Ref. 2; CAA62613).
{ECO:0000305}.
CONFLICT 539 539 S -> P (in Ref. 3; AK315298).
{ECO:0000305}.
CONFLICT 766 766 D -> E (in Ref. 1; AAC50355).
{ECO:0000305}.
CONFLICT 778 778 Missing (in Ref. 3; AK315298).
{ECO:0000305}.
SEQUENCE 1021 AA; 113139 MW; 629C5A42F3234B71 CRC64;
MAELPTTETP GDATLCSGRF TISTLLSSDE PSPPAAYDSS HPSHLTHSST FCMRTFGYNT
IDVVPTYEHY ANSTQPGEPR KVRPTLADLH SFLKQEGRHL HALAFDSRPS HEMTDGLVEG
EAGTSSEKNP EEPVRFGWVK GVMIRCMLNI WGVILYLRLP WITAQAGIVL TWIIILLSVT
VTSITGLSIS AISTNGKVKS GGTYFLISRS LGPELGGSIG LIFAFANAVG VAMHTVGFAE
TVRDLLQEYG APIVDPINDI RIIAVVSVTV LLAISLAGME WESKAQVLFF LVIMVSFANY
LVGTLIPPSE DKASKGFFSY RADIFVQNLV PDWRGPDGTF FGMFSIFFPS ATGILAGANI
SGDLKDPAIA IPKGTLMAIF WTTISYLAIS ATIGSCVVRD ASGVLNDTVT PGWGACEGLA
CSYGWNFTEC TQQHSCHYGL INYYQTMSMV SGFAPLITAG IFGATLSSAL ACLVSAAKVF
QCLCEDQLYP LIGFFGKGYG KNKEPVRGYL LAYAIAVAFI IIAELNTIAP IISNFFLCSY
ALINFSCFHA SITNSPGWRP SFQYYNKWAA LFGAIISVVI MFLLTWWAAL IAIGVVLFLL
LYVIYKKPEV NWGSSVQAGS YNLALSYSVG LNEVEDHIKN YRPQCLVLTG PPNFRPALVD
FVGTFTRNLS LMICGHVLIG PHKQRMPELQ LIANGHTKWL NKRKIKAFYS DVIAEDLRRG
VQILMQAAGL GRMKPNILVV GFKKNWQSAH PATVEDYIGI LHDAFDFNYG VCVMRMREGL
NVSKMMQAHI NPVFDPAEDG KEASARVDPK ALVKEEQATT IFQSEQGKKT IDIYWLFDDG
GLTLLIPYLL GRKRRWSKCK IRVFVGGQIN RMDQERKAII SLLSKFRLGF HEVHILPDIN
QNPRAEHTKR FEDMIAPFRL NDGFKDEATV NEMRRDCPWK ISDEEITKNR VKSLRQVRLN
EIVLDYSRDA ALIVITLPIG RKGKCPSSLY MAWLETLSQD LRPPVILIRG NQENVLTFYC
Q


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