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Q12908

- NTCP2_HUMAN

UniProt

Q12908 - NTCP2_HUMAN

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
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (08 Feb 2011)
      Previous versions | rss
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    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

    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. nucleus Source: Ensembl
    4. plasma membrane Source: Reactome
    5. proteasome complex Source: Ensembl

    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 33-310.
    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.
    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

    MNDPNSCVDN ATVCSGASCV VPESNFNNIL SVVLSTVLTI LLALVMFSMG    50
    CNVEIKKFLG HIKRPWGICV GFLCQFGIMP LTGFILSVAF DILPLQAVVV 100
    LIIGCCPGGT ASNILAYWVD GDMDLSVSMT TCSTLLALGM MPLCLLIYTK 150
    MWVDSGSIVI PYDNIGTSLV SLVVPVSIGM FVNHKWPQKA KIILKIGSIA 200
    GAILIVLIAV VGGILYQSAW IIAPKLWIIG TIFPVAGYSL GFLLARIAGL 250
    PWYRCRTVAF ETGMQNTQLC STIVQLSFTP EELNVVFTFP LIYSIFQLAF 300
    AAIFLGFYVA YKKCHGKNKA EIPESKENGT EPESSFYKAN GGFQPDEK 348
    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 33-310.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112444. 1 interaction.
    STRINGi 9606.ENSP00000245312.

    Chemistry

    BindingDBi Q12908.
    ChEMBLi CHEMBL2778.
    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.
    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

    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 1, 2014
    This is version 128 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