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Protein

Ileal sodium/bile acid cotransporter

Gene

SLC10A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism.

GO - Molecular functioni

GO - Biological processi

  • bile acid and bile salt transport Source: Reactome
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125255-MONOMER.
ReactomeiR-HSA-159418. Recycling of bile acids and salts.

Protein family/group databases

TCDBi2.A.28.1.2. the bile acid:na(+) symporter (bass) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Ileal sodium/bile acid cotransporter
Alternative name(s):
Apical sodium-dependent bile acid transporter
Short name:
ASBT
Ileal Na(+)/bile acid cotransporter
Ileal sodium-dependent bile acid transporter
Short name:
IBAT
Short name:
ISBT
Na(+)-dependent ileal bile acid transporter
Sodium/taurocholate cotransporting polypeptide, ileal
Solute carrier family 10 member 2
Gene namesi
Name:SLC10A2
Synonyms:ASBT, ISBT, NTCP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:10906. SLC10A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 28ExtracellularSequence analysisAdd BLAST28
Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Topological domaini50 – 82CytoplasmicSequence analysisAdd BLAST33
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Topological domaini104 – 126ExtracellularSequence analysisAdd BLAST23
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Topological domaini148 – 157CytoplasmicSequence analysis10
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 195ExtracellularSequence analysisAdd BLAST17
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Topological domaini217 – 224CytoplasmicSequence analysis8
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 284ExtracellularSequence analysisAdd BLAST39
Transmembranei285 – 305HelicalSequence analysisAdd BLAST21
Topological domaini306 – 348CytoplasmicSequence analysisAdd BLAST43

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • integral component of plasma membrane Source: ProtInc
  • microvillus Source: Ensembl
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Primary bile acid malabsorption (PBAM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.
See also OMIM:613291
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004614243L → P in PBAM; abolishes taurocholate transport. 1 PublicationCorresponds to variant rs121917848dbSNPEnsembl.1
Natural variantiVAR_004615262T → M in PBAM; abolishes taurocholate transport. 1 PublicationCorresponds to variant rs72547505dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi10N → D: Abolishes glycosylation. 1 Publication1
Mutagenesisi328N → D: No effect on glycosylation. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6555.
MalaCardsiSLC10A2.
MIMi613291. phenotype.
OpenTargetsiENSG00000125255.
PharmGKBiPA318.

Chemistry databases

ChEMBLiCHEMBL2778.
DrugBankiDB00787. Aciclovir.
DB02659. Cholic Acid.
DB00091. Cyclosporine.
DB03619. Deoxycholic Acid.
DB01586. Ursodeoxycholic acid.
DB00577. Valaciclovir.
GuidetoPHARMACOLOGYi960.

Polymorphism and mutation databases

BioMutaiSLC10A2.
DMDMi322510055.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000523391 – 348Ileal sodium/bile acid cotransporterAdd BLAST348

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi10N-linked (GlcNAc...)1 Publication1
Modified residuei335PhosphoserineBy similarity1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei328Not glycosylated1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ12908.
PeptideAtlasiQ12908.
PRIDEiQ12908.

PTM databases

iPTMnetiQ12908.
PhosphoSitePlusiQ12908.

Expressioni

Gene expression databases

BgeeiENSG00000125255.
CleanExiHS_SLC10A2.
GenevisibleiQ12908. HS.

Organism-specific databases

HPAiHPA004795.

Interactioni

Subunit structurei

Monomer and homodimer.

Protein-protein interaction databases

BioGridi112444. 1 interactor.
STRINGi9606.ENSP00000245312.

Chemistry databases

BindingDBiQ12908.

Structurei

3D structure databases

ProteinModelPortaliQ12908.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2718. Eukaryota.
COG0385. LUCA.
GeneTreeiENSGT00550000074505.
HOGENOMiHOG000234524.
HOVERGENiHBG006537.
InParanoidiQ12908.
KOiK14342.
OMAiNSCVDNA.
OrthoDBiEOG091G0GT5.
PhylomeDBiQ12908.
TreeFamiTF315811.

Family and domain databases

InterProiIPR002657. BilAc:Na_symport/Acr3.
IPR004710. Bilac:Na_transpt.
IPR030207. SLC10A2.
[Graphical view]
PANTHERiPTHR10361. PTHR10361. 1 hit.
PTHR10361:SF19. PTHR10361:SF19. 1 hit.
PfamiPF01758. SBF. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00841. bass. 1 hit.

Sequencei

Sequence statusi: Complete.

Q12908-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNDPNSCVDN ATVCSGASCV VPESNFNNIL SVVLSTVLTI LLALVMFSMG
60 70 80 90 100
CNVEIKKFLG HIKRPWGICV GFLCQFGIMP LTGFILSVAF DILPLQAVVV
110 120 130 140 150
LIIGCCPGGT ASNILAYWVD GDMDLSVSMT TCSTLLALGM MPLCLLIYTK
160 170 180 190 200
MWVDSGSIVI PYDNIGTSLV SLVVPVSIGM FVNHKWPQKA KIILKIGSIA
210 220 230 240 250
GAILIVLIAV VGGILYQSAW IIAPKLWIIG TIFPVAGYSL GFLLARIAGL
260 270 280 290 300
PWYRCRTVAF ETGMQNTQLC STIVQLSFTP EELNVVFTFP LIYSIFQLAF
310 320 330 340
AAIFLGFYVA YKKCHGKNKA EIPESKENGT EPESSFYKAN GGFQPDEK
Length:348
Mass (Da):37,714
Last modified:February 8, 2011 - v2
Checksum:i9794EAA77C3EC4F9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02483798V → I.2 PublicationsCorresponds to variant rs55971546dbSNPEnsembl.1
Natural variantiVAR_024838159V → I.1 PublicationCorresponds to variant rs60380298dbSNPEnsembl.1
Natural variantiVAR_004613171S → A.7 PublicationsCorresponds to variant rs188096dbSNPEnsembl.1
Natural variantiVAR_004614243L → P in PBAM; abolishes taurocholate transport. 1 PublicationCorresponds to variant rs121917848dbSNPEnsembl.1
Natural variantiVAR_004615262T → M in PBAM; abolishes taurocholate transport. 1 PublicationCorresponds to variant rs72547505dbSNPEnsembl.1
Natural variantiVAR_004616290P → S in a patient with Crohn disease; abolishes taurocholate transport. 1 PublicationCorresponds to variant rs56398830dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10417 mRNA. Translation: AAC51870.1.
U67674
, U67669, U67670, U67671, U67672, U67673 Genomic DNA. Translation: AAC95398.1.
AE014294 Genomic DNA. Translation: AAN16026.1.
AL161771 Genomic DNA. Translation: CAC39447.1.
CH471085 Genomic DNA. Translation: EAX09074.1.
BC130521 mRNA. Translation: AAI30522.1.
BC130523 mRNA. Translation: AAI30524.1.
Z54350 Genomic DNA. Translation: CAA91161.1.
CCDSiCCDS9506.1.
PIRiI38655.
RefSeqiNP_000443.1. NM_000452.2.
UniGeneiHs.194783.

Genome annotation databases

EnsembliENST00000245312; ENSP00000245312; ENSG00000125255.
GeneIDi6555.
KEGGihsa:6555.
UCSCiuc001vpy.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10417 mRNA. Translation: AAC51870.1.
U67674
, U67669, U67670, U67671, U67672, U67673 Genomic DNA. Translation: AAC95398.1.
AE014294 Genomic DNA. Translation: AAN16026.1.
AL161771 Genomic DNA. Translation: CAC39447.1.
CH471085 Genomic DNA. Translation: EAX09074.1.
BC130521 mRNA. Translation: AAI30522.1.
BC130523 mRNA. Translation: AAI30524.1.
Z54350 Genomic DNA. Translation: CAA91161.1.
CCDSiCCDS9506.1.
PIRiI38655.
RefSeqiNP_000443.1. NM_000452.2.
UniGeneiHs.194783.

3D structure databases

ProteinModelPortaliQ12908.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112444. 1 interactor.
STRINGi9606.ENSP00000245312.

Chemistry databases

BindingDBiQ12908.
ChEMBLiCHEMBL2778.
DrugBankiDB00787. Aciclovir.
DB02659. Cholic Acid.
DB00091. Cyclosporine.
DB03619. Deoxycholic Acid.
DB01586. Ursodeoxycholic acid.
DB00577. Valaciclovir.
GuidetoPHARMACOLOGYi960.

Protein family/group databases

TCDBi2.A.28.1.2. the bile acid:na(+) symporter (bass) family.

PTM databases

iPTMnetiQ12908.
PhosphoSitePlusiQ12908.

Polymorphism and mutation databases

BioMutaiSLC10A2.
DMDMi322510055.

Proteomic databases

PaxDbiQ12908.
PeptideAtlasiQ12908.
PRIDEiQ12908.

Protocols and materials databases

DNASUi6555.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245312; ENSP00000245312; ENSG00000125255.
GeneIDi6555.
KEGGihsa:6555.
UCSCiuc001vpy.4. human.

Organism-specific databases

CTDi6555.
DisGeNETi6555.
GeneCardsiSLC10A2.
HGNCiHGNC:10906. SLC10A2.
HPAiHPA004795.
MalaCardsiSLC10A2.
MIMi601295. gene.
613291. phenotype.
neXtProtiNX_Q12908.
OpenTargetsiENSG00000125255.
PharmGKBiPA318.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2718. Eukaryota.
COG0385. LUCA.
GeneTreeiENSGT00550000074505.
HOGENOMiHOG000234524.
HOVERGENiHBG006537.
InParanoidiQ12908.
KOiK14342.
OMAiNSCVDNA.
OrthoDBiEOG091G0GT5.
PhylomeDBiQ12908.
TreeFamiTF315811.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125255-MONOMER.
ReactomeiR-HSA-159418. Recycling of bile acids and salts.

Miscellaneous databases

GeneWikiiSLC10A2.
GenomeRNAii6555.
PROiQ12908.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125255.
CleanExiHS_SLC10A2.
GenevisibleiQ12908. HS.

Family and domain databases

InterProiIPR002657. BilAc:Na_symport/Acr3.
IPR004710. Bilac:Na_transpt.
IPR030207. SLC10A2.
[Graphical view]
PANTHERiPTHR10361. PTHR10361. 1 hit.
PTHR10361:SF19. PTHR10361:SF19. 1 hit.
PfamiPF01758. SBF. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00841. bass. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNTCP2_HUMAN
AccessioniPrimary (citable) accession number: Q12908
Secondary accession number(s): A1L4F4, Q13839
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 8, 2011
Last modified: November 2, 2016
This is version 150 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.