Q12908A1L4F4Q13839NTCP2_HUMANIleal sodium/bile acid cotransporterApical sodium-dependent bile acid transporterASBTIleal Na(+)/bile acid cotransporterIleal sodium-dependent bile acid transporterIBATISBTNa(+)-dependent ileal bile acid transporterSodium/taurocholate cotransporting polypeptide, ilealSolute carrier family 10 member 2SLC10A2ASBTISBTNTCP2Homo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoIdentification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.NUCLEOTIDE SEQUENCE [MRNA]VARIANTS ALA-171 AND SER-290TRANSPORT ACTIVITYBIOPHYSICOCHEMICAL PROPERTIESExpression and transport properties of the human ileal and renal sodium-dependent bile acid transporter.NUCLEOTIDE SEQUENCE [MRNA]FUNCTIONTRANSPORT ACTIVITYTISSUE SPECIFICITYBIOPHYSICOCHEMICAL PROPERTIESPrimary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANTS PBAM1 PRO-243 AND MET-262VARIANT ALA-171Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.NUCLEOTIDE SEQUENCE [GENOMIC DNA]VARIANT ALA-171The DNA sequence and analysis of human chromosome 13.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]VARIANT ALA-171NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]VARIANT ALA-171Human ileal sodium-dependent bile acid transporter gene (promoter, exon 1 and intron 1).NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22Bile acid uptake via the human apical sodium-bile acid cotransporter is electrogenic.FUNCTIONTRANSPORT ACTIVITYBIOPHYSICOCHEMICAL PROPERTIESTopology scanning and putative three-dimensional structure of the extracellular binding domains of the apical sodium-dependent bile acid transporter (SLC10A2).GLYCOSYLATION AT ASN-10MUTAGENESIS OF ASN-10 AND ASN-328TOPOLOGYTargeting the Four Pillars of Enterohepatic Bile Salt Cycling; Lessons From Genetics and Pharmacology.FUNCTIONAnalysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia.VARIANTS ILE-98; ILE-159 AND ALA-171Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption.VARIANTS ILE-98 AND ALA-171Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine (PubMed:7592981, PubMed:9458785, PubMed:9856990). Transports various bile acids, unconjugated or conjugated, such as cholate and taurocholate (PubMed:7592981, PubMed:9458785, PubMed:9856990). Also responsible for bile acid transport in the renal proximal tubules, a salvage mechanism that helps conserve bile acids (Probable). Works collaboratively with the Na(+)-taurocholate cotransporting polypeptide (NTCP), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321).2 Na(+)(out) + taurocholate(out) = 2 Na(+)(in) + taurocholate(in)cholate(out) + 2 Na(+)(out) = cholate(in) + 2 Na(+)(in)2 Na(+)(out) + taurochenodeoxycholate(out) = 2 Na(+)(in) + taurochenodeoxycholate(in)2 Na(+)(out) + tauroursodeoxycholate(out) = 2 Na(+)(in) + tauroursodeoxycholate(in)glycocholate(out) + 2 Na(+)(out) = glycocholate(in) + 2 Na(+)(in)2 Na(+)(out) + tauronorcholate(out) = 2 Na(+)(in) + tauronorcholate(in)2 Na(+)(out) + tauroallocholate(out) = 2 Na(+)(in) + tauroallocholate(in)2 Na(+)(out) + taurodeoxycholate(out) = 2 Na(+)(in) + taurodeoxycholate(in)2 Na(+)(out) + tauro-beta-muricholate(out) = 2 Na(+)(in) + tauro-beta-muricholate(in)17 uM for taurocholate13.3 uM for taurocholate12 uM for taurocholate33.3 uM for cholate37 uM for cholate2 uM for glycodeoxycholate5.7 uM for glycochenodeoxycholate4.1 uM for glycoursodeoxycholate96.0 pmol/min/mg enzyme with taurocholate as substrate48.0 pmol/min/mg enzyme with taurocholate as substrateMonomer and homodimer.Q12908Q8NHW4false3Q12908Q4LDR2false3Q12908P52803false3Q12908Q01628false3Q12908Q8IXM6false3Q12908Q9NZ42false3Q12908Q9Y6I9false3Q12908Q9H0R3false3Q12908Q5BVD1false3Q12908O75841false3MembraneMulti-pass membrane proteinMainly expressed in ileum and kidney, lower expression in cecum.Bile acid malabsorption, primary, 1
PBAM1
An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.The disease is caused by variants affecting the gene represented in this entry.Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.Disease variantGlycoproteinIon transportLipid transportMembranePhosphoproteinReference proteomeSodiumSodium transportSymportTransmembraneTransmembrane helixTransportVIVISALPTMPSNDNDMNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALVMFSMGCNVEIKKFLGHIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIGCCPGGTASNILAYWVDGDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYDNIGTSLVSLVVPVSIGMFVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWIIAPKLWIIGTIFPVAGYSLGFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPEELNVVFTFPLIYSIFQLAFAAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKANGGFQPDEK
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