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Q12908

- NTCP2_HUMAN

UniProt

Q12908 - NTCP2_HUMAN

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Protein

Ileal sodium/bile acid cotransporter

Gene

SLC10A2

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei328 – 3281Not glycosylated

GO - Molecular functioni

  1. bile acid:sodium symporter activity Source: ProtInc

GO - Biological processi

  1. bile acid and bile salt transport Source: Reactome
  2. bile acid metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
  4. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_11042. 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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:10906. SLC10A2.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. integral component of plasma membrane Source: ProtInc
  3. microvillus Source: Ensembl
  4. nucleus Source: Ensembl
  5. plasma membrane Source: Reactome
  6. proteasome complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Primary bile acid malabsorption (PBAM) [MIM:613291]: An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431L → P in PBAM; abolishes taurocholate transport. 1 Publication
VAR_004614
Natural varianti262 – 2621T → M in PBAM; abolishes taurocholate transport. 1 Publication
Corresponds to variant rs72547505 [ dbSNP | Ensembl ].
VAR_004615

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi10 – 101N → D: Abolishes glycosylation. 1 Publication
Mutagenesisi328 – 3281N → D: No effect on glycosylation. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613291. phenotype.
PharmGKBiPA318.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348Ileal sodium/bile acid cotransporterPRO_0000052339Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi10 – 101N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ12908.
PRIDEiQ12908.

PTM databases

PhosphoSiteiQ12908.

Expressioni

Gene expression databases

BgeeiQ12908.
CleanExiHS_SLC10A2.
GenevestigatoriQ12908.

Organism-specific databases

HPAiHPA004795.

Interactioni

Subunit structurei

Monomer and homodimer.

Protein-protein interaction databases

BioGridi112444. 1 interaction.
STRINGi9606.ENSP00000245312.

Structurei

3D structure databases

ProteinModelPortaliQ12908.
SMRiQ12908. Positions 32-311.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2828ExtracellularSequence AnalysisAdd
BLAST
Topological domaini50 – 8233CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini104 – 12623ExtracellularSequence AnalysisAdd
BLAST
Topological domaini148 – 15710CytoplasmicSequence Analysis
Topological domaini179 – 19517ExtracellularSequence AnalysisAdd
BLAST
Topological domaini217 – 2248CytoplasmicSequence Analysis
Topological domaini246 – 28439ExtracellularSequence AnalysisAdd
BLAST
Topological domaini306 – 34843CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence AnalysisAdd
BLAST
Transmembranei83 – 10321HelicalSequence AnalysisAdd
BLAST
Transmembranei127 – 14721HelicalSequence AnalysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence AnalysisAdd
BLAST
Transmembranei196 – 21621HelicalSequence AnalysisAdd
BLAST
Transmembranei225 – 24521HelicalSequence AnalysisAdd
BLAST
Transmembranei285 – 30521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0385.
GeneTreeiENSGT00550000074505.
HOGENOMiHOG000234524.
HOVERGENiHBG006537.
InParanoidiQ12908.
KOiK14342.
OMAiYLMPAWF.
OrthoDBiEOG7XWPNW.
PhylomeDBiQ12908.
TreeFamiTF315811.

Family and domain databases

InterProiIPR004710. Bil_ac_transpt.
IPR002657. BilAc/Na_symport.
[Graphical view]
PANTHERiPTHR10361. PTHR10361. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti98 – 981V → I.2 Publications
Corresponds to variant rs55971546 [ dbSNP | Ensembl ].
VAR_024837
Natural varianti159 – 1591V → I.1 Publication
Corresponds to variant rs60380298 [ dbSNP | Ensembl ].
VAR_024838
Natural varianti171 – 1711S → A.7 Publications
Corresponds to variant rs188096 [ dbSNP | Ensembl ].
VAR_004613
Natural varianti243 – 2431L → P in PBAM; abolishes taurocholate transport. 1 Publication
VAR_004614
Natural varianti262 – 2621T → M in PBAM; abolishes taurocholate transport. 1 Publication
Corresponds to variant rs72547505 [ dbSNP | Ensembl ].
VAR_004615
Natural varianti290 – 2901P → S in a patient with Crohn disease; abolishes taurocholate transport. 1 Publication
Corresponds to variant rs56398830 [ dbSNP | Ensembl ].
VAR_004616

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi322510055.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9506.1.
PIRi I38655.
RefSeqi NP_000443.1. NM_000452.2.
UniGenei Hs.194783.

3D structure databases

ProteinModelPortali Q12908.
SMRi Q12908. Positions 32-311.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112444. 1 interaction.
STRINGi 9606.ENSP00000245312.

Chemistry

BindingDBi Q12908.
ChEMBLi CHEMBL2778.
DrugBanki DB00787. Aciclovir.
DB00091. Cyclosporine.
DB01586. Ursodeoxycholic acid.
DB00577. Valaciclovir.
GuidetoPHARMACOLOGYi 960.

Protein family/group databases

TCDBi 2.A.28.1.2. the bile acid:na(+) symporter (bass) family.

PTM databases

PhosphoSitei Q12908.

Polymorphism databases

DMDMi 322510055.

Proteomic databases

PaxDbi Q12908.
PRIDEi Q12908.

Protocols and materials databases

DNASUi 6555.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000245312 ; ENSP00000245312 ; ENSG00000125255 .
GeneIDi 6555.
KEGGi hsa:6555.
UCSCi uc001vpy.4. human.

Organism-specific databases

CTDi 6555.
GeneCardsi GC13M103696.
HGNCi HGNC:10906. SLC10A2.
HPAi HPA004795.
MIMi 601295. gene.
613291. phenotype.
neXtProti NX_Q12908.
PharmGKBi PA318.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0385.
GeneTreei ENSGT00550000074505.
HOGENOMi HOG000234524.
HOVERGENi HBG006537.
InParanoidi Q12908.
KOi K14342.
OMAi YLMPAWF.
OrthoDBi EOG7XWPNW.
PhylomeDBi Q12908.
TreeFami TF315811.

Enzyme and pathway databases

Reactomei REACT_11042. Recycling of bile acids and salts.

Miscellaneous databases

GeneWikii SLC10A2.
GenomeRNAii 6555.
NextBioi 25507.
PROi Q12908.
SOURCEi Search...

Gene expression databases

Bgeei Q12908.
CleanExi HS_SLC10A2.
Genevestigatori Q12908.

Family and domain databases

InterProi IPR004710. Bil_ac_transpt.
IPR002657. BilAc/Na_symport.
[Graphical view ]
PANTHERi PTHR10361. PTHR10361. 1 hit.
Pfami PF01758. SBF. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00841. bass. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity."
    Wong M.H., Oelkers P., Dawson P.A.
    J. Biol. Chem. 270:27228-27234(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ALA-171 AND CD SER-290.
    Tissue: Ileum.
  2. "Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2)."
    Oelkers P., Kirby L.C., Heubi J.E., Dawson P.A.
    J. Clin. Invest. 99:1880-1887(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PBAM PRO-243 AND MET-262, VARIANT ALA-171.
  3. "Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia."
    Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M., Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P., Maurice K., Essioux L.
    , Millasseau P., Grel P., Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E., Weinberger D.R., Cohen N., Cohen D.
    Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-171.
  4. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-171.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-171.
  7. "Human ileal sodium-dependent bile acid transporter gene (promoter, exon 1 and intron 1)."
    Stengelin S., Becker W., Maier M., Rosenberger J., Kramer W.
    Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22.
    Tissue: Blood.
  8. "Topology scanning and putative three-dimensional structure of the extracellular binding domains of the apical sodium-dependent bile acid transporter (SLC10A2)."
    Zhang E.Y., Phelps M.A., Banerjee A., Khantwal C.M., Chang C., Helsper F., Swaan P.W.
    Biochemistry 43:11380-11392(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-10, MUTAGENESIS OF ASN-10 AND ASN-328, TOPOLOGY.
  9. "Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia."
    Love M.W., Craddock A.L., Angelin B., Brunzell J.D., Duane W.C., Dawson P.A.
    Arterioscler. Thromb. Vasc. Biol. 21:2039-2045(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-98; ILE-159 AND ALA-171.
  10. "Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption."
    Montagnani M., Love M.W., Rossel P., Dawson P.A., Qvist P.
    Scand. J. Gastroenterol. 36:1077-1080(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-98 AND ALA-171.

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: October 29, 2014
This is version 129 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

External Data

Dasty 3