NTCP_HUMAN
ID NTCP_HUMAN Reviewed; 349 AA.
AC Q14973; B9EGB6; Q2TU29;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Sodium/bile acid cotransporter;
DE AltName: Full=Cell growth-inhibiting gene 29 protein;
DE AltName: Full=Na(+)/bile acid cotransporter;
DE AltName: Full=Na(+)/taurocholate transport protein;
DE AltName: Full=Sodium/taurocholate cotransporting polypeptide;
DE AltName: Full=Solute carrier family 10 member 1;
GN Name=SLC10A1; Synonyms=NTCP; ORFNames=GIG29;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Liver;
RX PubMed=8132774; DOI=10.1172/jci117091;
RA Hagenbuch B., Meier P.J.;
RT "Molecular cloning, chromosomal localization, and functional
RT characterization of a human liver Na+/bile acid cotransporter.";
RL J. Clin. Invest. 93:1326-1331(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W.;
RT "Identification of a human cell growth inhibition gene.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, VARIANTS THR-223; THR-279 AND GLU-314,
RP VARIANT FHCA2 PHE-267, CHARACTERIZATION OF VARIANT FHCA2 PHE-267, AND
RP CHARACTERIZATION OF VARIANTS THR-279 AND GLU-314.
RX PubMed=14660639; DOI=10.1074/jbc.m305782200;
RA Ho R.H., Leake B.F., Roberts R.L., Lee W., Kim R.B.;
RT "Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting
RT polypeptide (SLC10A1) reveals a domain critical for bile acid substrate
RT recognition.";
RL J. Biol. Chem. 279:7213-7222(2004).
RN [6]
RP FUNCTION (MICROBIAL INFECTION), AND INTERACTION WITH HEPATITIS B VIRUS
RP LARGE ENVELOPE PROTEIN.
RX PubMed=23150796; DOI=10.7554/elife.00049;
RA Yan H., Zhong G., Xu G., He W., Jing Z., Gao Z., Huang Y., Qi Y., Peng B.,
RA Wang H., Fu L., Song M., Chen P., Gao W., Ren B., Sun Y., Cai T., Feng X.,
RA Sui J., Li W.;
RT "Sodium taurocholate cotransporting polypeptide is a functional receptor
RT for human hepatitis B and D virus.";
RL Elife 1:E00049-E00049(2012).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, VARIANT FHCA2 HIS-252, AND CHARACTERIZATION
RP OF VARIANT FHCA2 HIS-252.
RX PubMed=24867799; DOI=10.1002/hep.27240;
RA Vaz F.M., Paulusma C.C., Huidekoper H., de Ru M., Lim C., Koster J.,
RA Ho-Mok K., Bootsma A.H., Groen A.K., Schaap F.G., Oude Elferink R.P.,
RA Waterham H.R., Wanders R.J.;
RT "Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency:
RT conjugated hypercholanemia without a clear clinical phenotype.";
RL Hepatology 61:260-267(2015).
RN [8]
RP ASSOCIATION OF VARIANT PHE-267 WITH RESISTANCE TO CHRONIC HEPATITIS B.
RX PubMed=25418280; DOI=10.1002/hep.27608;
RA Peng L., Zhao Q., Li Q., Li M., Li C., Xu T., Jing X., Zhu X., Wang Y.,
RA Li F., Liu R., Zhong C., Pan Q., Zeng B., Liao Q., Hu B., Hu Z.X.,
RA Huang Y.S., Sham P., Liu J., Xu S., Wang J., Gao Z.L., Wang Y.;
RT "The p.Ser267Phe variant in SLC10A1 is associated with resistance to
RT chronic hepatitis B.";
RL Hepatology 61:1251-1260(2015).
RN [9]
RP VARIANT FHCA2 PHE-267, AND INVOLVEMENT IN FHCA2.
RX PubMed=27882152; DOI=10.3892/etm.2016.3752;
RA Deng M., Mao M., Guo L., Chen F.P., Wen W.R., Song Y.Z.;
RT "Clinical and molecular study of a pediatric patient with sodium
RT taurocholate cotransporting polypeptide deficiency.";
RL Exp. Ther. Med. 12:3294-3300(2016).
RN [10]
RP VARIANT FHCA2 PHE-267.
RX PubMed=28283843; DOI=10.1007/s10545-017-0031-9;
RA Van Herpe F., Waterham H.R., Adams C.J., Mannens M., Bikker H., Vaz F.M.,
RA Cassiman D.;
RT "NTCP deficiency and persistently raised bile salts: an adult case.";
RL J. Inherit. Metab. Dis. 40:313-315(2017).
RN [11]
RP VARIANTS FHCA2 THR-88 AND PHE-267.
RX PubMed=29290974; DOI=10.18632/oncotarget.22503;
RA Qiu J.W., Deng M., Cheng Y., Atif R.M., Lin W.X., Guo L., Li H., Song Y.Z.;
RT "Sodium taurocholate cotransporting polypeptide (NTCP) deficiency:
RT Identification of a novel SLC10A1 mutation in two unrelated infants
RT presenting with neonatal indirect hyperbilirubinemia and remarkable
RT hypercholanemia.";
RL Oncotarget 8:106598-106607(2017).
RN [12]
RP VARIANT PHE-267, AND INVOLVEMENT IN FHCA2.
RX PubMed=28835676; DOI=10.1038/s41598-017-07012-2;
RA Liu R., Chen C., Xia X., Liao Q., Wang Q., Newcombe P.J., Xu S., Chen M.,
RA Ding Y., Li X., Liao Z., Li F., Du M., Huang H., Dong R., Deng W., Wang Y.,
RA Zeng B., Pan Q., Jiang D., Zeng H., Sham P., Cao Y., Maxwell P.H.,
RA Gao Z.L., Peng L., Wang Y.;
RT "Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of
RT hypercholanemia and implications for personalized medicine.";
RL Sci. Rep. 7:9214-9214(2017).
RN [13]
RP VARIANTS FHCA2 ARG-199 AND PHE-267.
RX PubMed=31661128; DOI=10.3892/mmr.2019.10763;
RA Li H., Deng M., Guo L., Qiu J.W., Lin G.Z., Long X.L., Xiao X.M.,
RA Song Y.Z.;
RT "Clinical and molecular characterization of four patients with NTCP
RT deficiency from two unrelated families harboring the novel SLC10A1 variant
RT c.595A>C (p.Ser199Arg).";
RL Mol. Med. Report. 20:4915-4924(2019).
RN [14]
RP CHARACTERIZATION OF VARIANTS CYS-21; THR-39; LEU-41; THR-64; THR-73;
RP THR-88; PRO-138; MET-159; GLN-180; GLU-190; THR-232; LEU-234; PHE-241;
RP TRP-249; CYS-252; SER-252; SER-258; THR-279 AND GLU-293.
RX PubMed=32101444; DOI=10.1021/acs.molpharmaceut.9b01200;
RA Russell L.E., Zhou Y., Lauschke V.M., Kim R.B.;
RT "In vitro functional characterization and in silico prediction of rare
RT genetic variation in the bile acid and drug transporter, Na+-taurocholate
RT cotransporting polypeptide (NTCP, SLC10A1).";
RL Mol. Pharm. 17:1170-1181(2020).
RN [15]
RP VARIANTS FHCA2 THR-88; ARG-199 AND PHE-267.
RX PubMed=34369070; DOI=10.1111/liv.15031;
RA Deng L.J., Ouyang W.X., Liu R., Deng M., Qiu J.W., Yaqub M.R., Raza M.A.,
RA Lin W.X., Guo L., Li H., Chen F.P., Ouyang Y., Huang Y.G., Huang Y.J.,
RA Long X.L., Huang X.L., Li S.J., Song Y.Z.;
RT "Clinical characterization of NTCP deficiency in paediatric patients: A
RT case-control study based on SLC10A1 genotyping analysis.";
RL Liver Int. 41:2720-2728(2021).
CC -!- FUNCTION: As a major transporter of conjugated bile salts from plasma
CC into the hepatocyte, it has a key role in the enterohepatic circulation
CC of bile salts necessary for the solubilization and absorption of
CC dietary fat and fat-soluble vitamins. It exhibits broad substrate
CC specificity and transports various non-bile acid organic compounds as
CC well. It is strictly dependent on the extracellular presence of sodium.
CC Able to transport taurocholate, cholate, and the non-bile acid estron
CC sulfate (PubMed:14660639, PubMed:24867799).
CC {ECO:0000269|PubMed:14660639, ECO:0000269|PubMed:24867799}.
CC -!- FUNCTION: (Microbial infection) Acts as a receptor for hepatitis B
CC virus. {ECO:0000269|PubMed:23150796}.
CC -!- SUBUNIT: (Microbial infection) Interacts with hepatitis B virus large
CC envelope protein. {ECO:0000269|PubMed:23150796}.
CC -!- INTERACTION:
CC Q14973; O95870: ABHD16A; NbExp=3; IntAct=EBI-3923031, EBI-348517;
CC Q14973; Q9ULC5: ACSL5; NbExp=3; IntAct=EBI-3923031, EBI-2876927;
CC Q14973; Q9NRZ7: AGPAT3; NbExp=3; IntAct=EBI-3923031, EBI-2803601;
CC Q14973; Q8N6S5: ARL6IP6; NbExp=3; IntAct=EBI-3923031, EBI-2808844;
CC Q14973; P07306: ASGR1; NbExp=3; IntAct=EBI-3923031, EBI-1172335;
CC Q14973; Q99437: ATP6V0B; NbExp=3; IntAct=EBI-3923031, EBI-3904417;
CC Q14973; O95393: BMP10; NbExp=3; IntAct=EBI-3923031, EBI-3922513;
CC Q14973; P06681: C2; NbExp=3; IntAct=EBI-3923031, EBI-2835920;
CC Q14973; P07357: C8A; NbExp=3; IntAct=EBI-3923031, EBI-9021639;
CC Q14973; Q9BXR6: CFHR5; NbExp=3; IntAct=EBI-3923031, EBI-11579371;
CC Q14973; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-3923031, EBI-12256978;
CC Q14973; Q96MX0: CMTM3; NbExp=3; IntAct=EBI-3923031, EBI-7247651;
CC Q14973; Q5RI15: COX20; NbExp=3; IntAct=EBI-3923031, EBI-2834035;
CC Q14973; Q07325: CXCL9; NbExp=3; IntAct=EBI-3923031, EBI-3911467;
CC Q14973; P00387: CYB5R3; NbExp=3; IntAct=EBI-3923031, EBI-1046040;
CC Q14973; Q9BUN8: DERL1; NbExp=3; IntAct=EBI-3923031, EBI-398977;
CC Q14973; Q6ZPD8: DGAT2L6; NbExp=3; IntAct=EBI-3923031, EBI-12831978;
CC Q14973; Q7L5A8: FA2H; NbExp=3; IntAct=EBI-3923031, EBI-11337888;
CC Q14973; Q96D05-2: FAM241B; NbExp=3; IntAct=EBI-3923031, EBI-12118888;
CC Q14973; Q96IV6: FAXDC2; NbExp=3; IntAct=EBI-3923031, EBI-12142299;
CC Q14973; P37268: FDFT1; NbExp=3; IntAct=EBI-3923031, EBI-714550;
CC Q14973; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-3923031, EBI-12175685;
CC Q14973; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-3923031, EBI-713304;
CC Q14973; P01350: GAST; NbExp=3; IntAct=EBI-3923031, EBI-3436637;
CC Q14973; Q9NZC3: GDE1; NbExp=3; IntAct=EBI-3923031, EBI-2833330;
CC Q14973; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-3923031, EBI-6166686;
CC Q14973; O14653: GOSR2; NbExp=3; IntAct=EBI-3923031, EBI-4401517;
CC Q14973; Q8TDV0: GPR151; NbExp=3; IntAct=EBI-3923031, EBI-11955647;
CC Q14973; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-3923031, EBI-13345167;
CC Q14973; Q6IBB0: IFITM2; NbExp=3; IntAct=EBI-3923031, EBI-12167419;
CC Q14973; Q01628: IFITM3; NbExp=3; IntAct=EBI-3923031, EBI-7932862;
CC Q14973; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-3923031, EBI-2830349;
CC Q14973; P48449: LSS; NbExp=3; IntAct=EBI-3923031, EBI-3930711;
CC Q14973; P21145: MAL; NbExp=3; IntAct=EBI-3923031, EBI-3932027;
CC Q14973; Q13021: MALL; NbExp=3; IntAct=EBI-3923031, EBI-750078;
CC Q14973; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-3923031, EBI-2858252;
CC Q14973; P11836: MS4A1; NbExp=3; IntAct=EBI-3923031, EBI-2808234;
CC Q14973; A6NDP7: MYADML2; NbExp=3; IntAct=EBI-3923031, EBI-17641390;
CC Q14973; Q99519: NEU1; NbExp=3; IntAct=EBI-3923031, EBI-721517;
CC Q14973; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-3923031, EBI-10317425;
CC Q14973; Q9P0S3: ORMDL1; NbExp=3; IntAct=EBI-3923031, EBI-1054848;
CC Q14973; Q53FV1: ORMDL2; NbExp=3; IntAct=EBI-3923031, EBI-11075081;
CC Q14973; Q8N138: ORMDL3; NbExp=3; IntAct=EBI-3923031, EBI-721750;
CC Q14973; Q7RTS5: OTOP3; NbExp=3; IntAct=EBI-3923031, EBI-12853910;
CC Q14973; I3L0A0: PEDS1-UBE2V1; NbExp=3; IntAct=EBI-3923031, EBI-12213001;
CC Q14973; Q9Y5Y5: PEX16; NbExp=3; IntAct=EBI-3923031, EBI-981985;
CC Q14973; Q99640-2: PKMYT1; NbExp=3; IntAct=EBI-3923031, EBI-12257782;
CC Q14973; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-3923031, EBI-8636004;
CC Q14973; Q9NTJ5: SACM1L; NbExp=3; IntAct=EBI-3923031, EBI-3917235;
CC Q14973; Q969E2: SCAMP4; NbExp=3; IntAct=EBI-3923031, EBI-4403649;
CC Q14973; Q9Y6D0: SELENOK; NbExp=3; IntAct=EBI-3923031, EBI-9679163;
CC Q14973; Q8WV19: SFT2D1; NbExp=3; IntAct=EBI-3923031, EBI-2854842;
CC Q14973; O95562: SFT2D2; NbExp=3; IntAct=EBI-3923031, EBI-4402330;
CC Q14973; Q9H9B4: SFXN1; NbExp=3; IntAct=EBI-3923031, EBI-355861;
CC Q14973; Q9Y666-2: SLC12A7; NbExp=3; IntAct=EBI-3923031, EBI-12854384;
CC Q14973; Q7RTY0: SLC16A13; NbExp=3; IntAct=EBI-3923031, EBI-12243266;
CC Q14973; Q96AG3: SLC25A46; NbExp=3; IntAct=EBI-3923031, EBI-10281975;
CC Q14973; Q6ICL7: SLC35E4; NbExp=3; IntAct=EBI-3923031, EBI-12867720;
CC Q14973; Q9H2H9: SLC38A1; NbExp=3; IntAct=EBI-3923031, EBI-9978441;
CC Q14973; Q9NVC3: SLC38A7; NbExp=3; IntAct=EBI-3923031, EBI-10314552;
CC Q14973; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-3923031, EBI-12266234;
CC Q14973; Q8N2U9: SLC66A2; NbExp=3; IntAct=EBI-3923031, EBI-3907610;
CC Q14973; Q8WY07: SLC7A3; NbExp=3; IntAct=EBI-3923031, EBI-13066314;
CC Q14973; O60906: SMPD2; NbExp=3; IntAct=EBI-3923031, EBI-12828299;
CC Q14973; O15400: STX7; NbExp=3; IntAct=EBI-3923031, EBI-3221827;
CC Q14973; Q03518: TAP1; NbExp=3; IntAct=EBI-3923031, EBI-747259;
CC Q14973; P02786: TFRC; NbExp=3; IntAct=EBI-3923031, EBI-355727;
CC Q14973; Q969X1: TMBIM1; NbExp=3; IntAct=EBI-3923031, EBI-2820569;
CC Q14973; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-3923031, EBI-10171534;
CC Q14973; Q9BTD3: TMEM121; NbExp=3; IntAct=EBI-3923031, EBI-12155101;
CC Q14973; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-3923031, EBI-348587;
CC Q14973; Q9H0R3: TMEM222; NbExp=3; IntAct=EBI-3923031, EBI-347385;
CC Q14973; Q8WY98: TMEM234; NbExp=3; IntAct=EBI-3923031, EBI-8642211;
CC Q14973; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-3923031, EBI-11528917;
CC Q14973; Q9NWH2: TMEM242; NbExp=3; IntAct=EBI-3923031, EBI-10315004;
CC Q14973; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-3923031, EBI-2852148;
CC Q14973; Q71RG4: TMUB2; NbExp=3; IntAct=EBI-3923031, EBI-2820477;
CC Q14973; Q96B49: TOMM6; NbExp=3; IntAct=EBI-3923031, EBI-10826510;
CC Q14973; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-3923031, EBI-12195249;
CC Q14973; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-3923031, EBI-11988865;
CC Q14973; Q9NYZ1: TVP23B; NbExp=3; IntAct=EBI-3923031, EBI-11343401;
CC Q14973; Q53HI1: UNC50; NbExp=3; IntAct=EBI-3923031, EBI-7601760;
CC Q14973; Q15836: VAMP3; NbExp=3; IntAct=EBI-3923031, EBI-722343;
CC Q14973; O95070: YIF1A; NbExp=3; IntAct=EBI-3923031, EBI-2799703;
CC Q14973; Q9BSR8: YIPF4; NbExp=3; IntAct=EBI-3923031, EBI-751253;
CC Q14973; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-3923031, EBI-751210;
CC Q14973; Q96FB2; NbExp=3; IntAct=EBI-3923031, EBI-2857623;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14660639,
CC ECO:0000269|PubMed:24867799}; Multi-pass membrane protein.
CC -!- DISEASE: Hypercholanemia, familial, 2 (FHCA2) [MIM:619256]: An
CC autosomal recessive inborn error of metabolism characterized by
CC persistently increased plasma levels of conjugated bile salts apparent
CC from infancy, fat malabsorption and impaired absorption of fat-soluble
CC vitamins, including D and K. Most patients are asymptomatic. Some
CC neonates may have transient jaundice or transiently elevated liver
CC enzymes. {ECO:0000269|PubMed:14660639, ECO:0000269|PubMed:24867799,
CC ECO:0000269|PubMed:27882152, ECO:0000269|PubMed:28283843,
CC ECO:0000269|PubMed:28835676, ECO:0000269|PubMed:29290974,
CC ECO:0000269|PubMed:31661128, ECO:0000269|PubMed:34369070}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the bile acid:sodium symporter (BASS) (TC
CC 2.A.28) family. {ECO:0000305}.
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DR EMBL; L21893; AAA36381.1; -; mRNA.
DR EMBL; AY544127; AAT11158.1; -; mRNA.
DR EMBL; CH471061; EAW81011.1; -; Genomic_DNA.
DR EMBL; BC069799; AAH69799.1; -; mRNA.
DR EMBL; BC069822; AAH69822.1; -; mRNA.
DR EMBL; BC074724; AAH74724.1; -; mRNA.
DR EMBL; BC126298; AAI26299.1; -; mRNA.
DR EMBL; BC136355; AAI36356.1; -; mRNA.
DR CCDS; CCDS9797.1; -.
DR PIR; I55601; I55601.
DR RefSeq; NP_003040.1; NM_003049.3.
DR AlphaFoldDB; Q14973; -.
DR SMR; Q14973; -.
DR BioGRID; 112443; 100.
DR IntAct; Q14973; 89.
DR STRING; 9606.ENSP00000216540; -.
DR BindingDB; Q14973; -.
DR ChEMBL; CHEMBL5287; -.
DR DrugBank; DB15248; Bulevirtide.
DR DrugBank; DB00887; Bumetanide.
DR DrugBank; DB02659; Cholic Acid.
DR DrugBank; DB00286; Conjugated estrogens.
DR DrugBank; DB00091; Cyclosporine.
DR DrugBank; DB03619; Deoxycholic acid.
DR DrugBank; DB00977; Ethinylestradiol.
DR DrugBank; DB02123; Glycochenodeoxycholic Acid.
DR DrugBank; DB00328; Indomethacin.
DR DrugBank; DB00279; Liothyronine.
DR DrugBank; DB01583; Liotrix.
DR DrugBank; DB08860; Pitavastatin.
DR DrugBank; DB01032; Probenecid.
DR DrugBank; DB00396; Progesterone.
DR DrugBank; DB14761; Remdesivir.
DR DrugBank; DB01098; Rosuvastatin.
DR DrugBank; DB06290; Simeprevir.
DR DrugBank; DB04348; Taurocholic acid.
DR DrugBank; DB00624; Testosterone.
DR DrugBank; DB13943; Testosterone cypionate.
DR DrugBank; DB13944; Testosterone enanthate.
DR DrugBank; DB13946; Testosterone undecanoate.
DR DrugBank; DB09100; Thyroid, porcine.
DR DrugBank; DB01586; Ursodeoxycholic acid.
DR DrugCentral; Q14973; -.
DR GuidetoPHARMACOLOGY; 959; -.
DR TCDB; 2.A.28.1.9; the bile acid:na(+) symporter (bass) family.
DR GlyGen; Q14973; 4 sites.
DR iPTMnet; Q14973; -.
DR PhosphoSitePlus; Q14973; -.
DR BioMuta; SLC10A1; -.
DR DMDM; 2498046; -.
DR MassIVE; Q14973; -.
DR PaxDb; Q14973; -.
DR PeptideAtlas; Q14973; -.
DR PRIDE; Q14973; -.
DR ProteomicsDB; 60267; -.
DR Antibodypedia; 47330; 225 antibodies from 28 providers.
DR DNASU; 6554; -.
DR Ensembl; ENST00000216540.5; ENSP00000216540.4; ENSG00000100652.5.
DR GeneID; 6554; -.
DR KEGG; hsa:6554; -.
DR MANE-Select; ENST00000216540.5; ENSP00000216540.4; NM_003049.4; NP_003040.1.
DR UCSC; uc001xlr.3; human.
DR CTD; 6554; -.
DR DisGeNET; 6554; -.
DR GeneCards; SLC10A1; -.
DR HGNC; HGNC:10905; SLC10A1.
DR HPA; ENSG00000100652; Tissue enriched (liver).
DR MIM; 182396; gene.
DR MIM; 619256; phenotype.
DR neXtProt; NX_Q14973; -.
DR OpenTargets; ENSG00000100652; -.
DR PharmGKB; PA317; -.
DR VEuPathDB; HostDB:ENSG00000100652; -.
DR eggNOG; KOG2718; Eukaryota.
DR GeneTree; ENSGT00950000182808; -.
DR HOGENOM; CLU_034788_7_5_1; -.
DR InParanoid; Q14973; -.
DR OMA; MEIGIHN; -.
DR OrthoDB; 1148347at2759; -.
DR PhylomeDB; Q14973; -.
DR TreeFam; TF315811; -.
DR PathwayCommons; Q14973; -.
DR Reactome; R-HSA-159418; Recycling of bile acids and salts.
DR SignaLink; Q14973; -.
DR BioGRID-ORCS; 6554; 9 hits in 1064 CRISPR screens.
DR ChiTaRS; SLC10A1; human.
DR GeneWiki; SLC10A1; -.
DR GenomeRNAi; 6554; -.
DR Pharos; Q14973; Tclin.
DR PRO; PR:Q14973; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q14973; protein.
DR Bgee; ENSG00000100652; Expressed in right lobe of liver and 63 other tissues.
DR Genevisible; Q14973; HS.
DR GO; GO:0016323; C:basolateral plasma membrane; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0008508; F:bile acid:sodium symporter activity; IBA:GO_Central.
DR GO; GO:0001618; F:virus receptor activity; IEA:UniProtKB-KW.
DR GO; GO:0015721; P:bile acid and bile salt transport; IBA:GO_Central.
DR GO; GO:0038183; P:bile acid signaling pathway; IEA:Ensembl.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IEA:Ensembl.
DR GO; GO:0120188; P:regulation of bile acid secretion; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:1904486; P:response to 17alpha-ethynylestradiol; IEA:Ensembl.
DR GO; GO:0045471; P:response to ethanol; IEA:Ensembl.
DR GO; GO:0031667; P:response to nutrient levels; IEA:Ensembl.
DR Gene3D; 1.20.1530.20; -; 1.
DR InterPro; IPR002657; BilAc:Na_symport/Acr3.
DR InterPro; IPR004710; Bilac:Na_transpt.
DR InterPro; IPR038770; Na+/solute_symporter_sf.
DR InterPro; IPR030208; SLC10A1.
DR PANTHER; PTHR10361; PTHR10361; 1.
DR PANTHER; PTHR10361:SF40; PTHR10361:SF40; 1.
DR Pfam; PF01758; SBF; 1.
DR TIGRFAMs; TIGR00841; bass; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Disease variant; Glycoprotein;
KW Host cell receptor for virus entry; Host-virus interaction; Ion transport;
KW Membrane; Receptor; Reference proteome; Sodium; Sodium transport; Symport;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..349
FT /note="Sodium/bile acid cotransporter"
FT /id="PRO_0000052335"
FT TRANSMEM 25..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 60..80
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 91..111
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 120..140
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 156..176
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 191..211
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 220..240
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 283..303
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 5
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 11
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 117
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 336
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 21
FT /note="R -> C (decreased function in taurocholate
FT transport; dbSNP:rs200758433)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085560"
FT VARIANT 39
FT /note="M -> T (decreased function in taurocholate
FT transport; dbSNP:rs536458730)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085561"
FT VARIANT 41
FT /note="S -> L (decreased function in taurocholate
FT transport; dbSNP:rs111885789)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085562"
FT VARIANT 64
FT /note="A -> T (decreased function in taurocholate
FT transport; dbSNP:rs202018997)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085563"
FT VARIANT 73
FT /note="P -> T (severely decreased function in taurocholate
FT transport; dbSNP:rs763683476)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085564"
FT VARIANT 88
FT /note="I -> T (in FHCA2; decreased function in taurocholate
FT transport; dbSNP:rs148467625)"
FT /evidence="ECO:0000269|PubMed:29290974,
FT ECO:0000269|PubMed:32101444, ECO:0000269|PubMed:34369070"
FT /id="VAR_085565"
FT VARIANT 138
FT /note="L -> P (loss of function in taurocholate transport;
FT dbSNP:rs543063679)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085566"
FT VARIANT 159
FT /note="I -> M (decreased function in taurocholate
FT transport; dbSNP:rs144006534)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085567"
FT VARIANT 180
FT /note="R -> Q (decreased function in taurocholate
FT transport; dbSNP:rs571796903)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085568"
FT VARIANT 190
FT /note="G -> E (decreased function in taurocholate
FT transport; dbSNP:rs553948182)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085569"
FT VARIANT 199
FT /note="S -> R (in FHCA2; dbSNP:rs746174545)"
FT /evidence="ECO:0000269|PubMed:31661128,
FT ECO:0000269|PubMed:34369070"
FT /id="VAR_085570"
FT VARIANT 223
FT /note="I -> T (decreased transport of taurocholate and
FT cholate; decreased transport of estron sulfate; decreased
FT expression at the cell membrane due to intracellular
FT retention; dbSNP:rs61745930)"
FT /evidence="ECO:0000269|PubMed:14660639"
FT /id="VAR_085571"
FT VARIANT 232
FT /note="I -> T (slightly decreased function in taurocholate
FT transport; dbSNP:rs190268737)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085572"
FT VARIANT 234
FT /note="F -> L (severely decreased function in taurocholate
FT transport; dbSNP:rs139931299)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085573"
FT VARIANT 241
FT /note="S -> F (loss of function in taurocholate transport;
FT dbSNP:rs150579813)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085574"
FT VARIANT 249
FT /note="R -> W (severely decreased function in taurocholate
FT transport; dbSNP:rs76966244)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085575"
FT VARIANT 252
FT /note="R -> C (severely decreased function in taurocholate
FT transport; dbSNP:rs141269120)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085576"
FT VARIANT 252
FT /note="R -> H (in FHCA2; loss of function in taurocholate
FT transport; loss of localization to the cell membrane due to
FT intracellular retention; dbSNP:rs147226818)"
FT /evidence="ECO:0000269|PubMed:24867799"
FT /id="VAR_085577"
FT VARIANT 252
FT /note="R -> S (severely decreased function in taurocholate
FT transport; dbSNP:rs141269120)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085578"
FT VARIANT 258
FT /note="T -> S (decreased function in taurocholate
FT transport; dbSNP:rs541801766)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085579"
FT VARIANT 267
FT /note="S -> F (in FHCA2; associated with resistance to
FT hepatitis B virus infection and chronic hepatitis; unable
FT to transport taurocholate and cholate; does not affect
FT uptake of estrone sulfate; does not affect localization to
FT the cell membrane; dbSNP:rs2296651)"
FT /evidence="ECO:0000269|PubMed:14660639,
FT ECO:0000269|PubMed:25418280, ECO:0000269|PubMed:27882152,
FT ECO:0000269|PubMed:28283843, ECO:0000269|PubMed:28835676,
FT ECO:0000269|PubMed:29290974, ECO:0000269|PubMed:31661128,
FT ECO:0000269|PubMed:34369070"
FT /id="VAR_022113"
FT VARIANT 279
FT /note="I -> T (decreased transport of taurocholate and
FT cholate; decreased transport of estron sulfate; does not
FT affect localization to the cell membrane;
FT dbSNP:rs72547507)"
FT /evidence="ECO:0000269|PubMed:14660639,
FT ECO:0000269|PubMed:32101444"
FT /id="VAR_085580"
FT VARIANT 293
FT /note="Q -> E (decreased function in taurocholate
FT transport; dbSNP:rs189313778)"
FT /evidence="ECO:0000269|PubMed:32101444"
FT /id="VAR_085581"
FT VARIANT 314
FT /note="K -> E (decreased transport of taurocholate and
FT cholate; decreased transport of estron sulfate; does not
FT affect localization to the cell membrane;
FT dbSNP:rs72547506)"
FT /evidence="ECO:0000269|PubMed:14660639"
FT /id="VAR_085582"
SQ SEQUENCE 349 AA; 38119 MW; F3AB2CC2FBD925E3 CRC64;
MEAHNASAPF NFTLPPNFGK RPTDLALSVI LVFMLFFIML SLGCTMEFSK IKAHLWKPKG
LAIALVAQYG IMPLTAFVLG KVFRLKNIEA LAILVCGCSP GGNLSNVFSL AMKGDMNLSI
VMTTCSTFCA LGMMPLLLYI YSRGIYDGDL KDKVPYKGIV ISLVLVLIPC TIGIVLKSKR
PQYMRYVIKG GMIIILLCSV AVTVLSAINV GKSIMFAMTP LLIATSSLMP FIGFLLGYVL
SALFCLNGRC RRTVSMETGC QNVQLCSTIL NVAFPPEVIG PLFFFPLLYM IFQLGEGLLL
IAIFWCYEKF KTPKDKTKMI YTAATTEETI PGALGNGTYK GEDCSPCTA
