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Q12908 (NTCP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC10A2
Synonyms:ASBT, ISBT, NTCP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length348 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Monomer and homodimer.

Subcellular location

Membrane; Multi-pass membrane protein.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 348348Ileal sodium/bile acid cotransporter
PRO_0000052339

Regions

Topological domain1 – 2828Extracellular Potential
Transmembrane29 – 4921Helical; Potential
Topological domain50 – 8233Cytoplasmic Potential
Transmembrane83 – 10321Helical; Potential
Topological domain104 – 12623Extracellular Potential
Transmembrane127 – 14721Helical; Potential
Topological domain148 – 15710Cytoplasmic Potential
Transmembrane158 – 17821Helical; Potential
Topological domain179 – 19517Extracellular Potential
Transmembrane196 – 21621Helical; Potential
Topological domain217 – 2248Cytoplasmic Potential
Transmembrane225 – 24521Helical; Potential
Topological domain246 – 28439Extracellular Potential
Transmembrane285 – 30521Helical; Potential
Topological domain306 – 34843Cytoplasmic Potential

Sites

Site3281Not glycosylated

Amino acid modifications

Glycosylation101N-linked (GlcNAc...) Ref.8

Natural variations

Natural variant981V → I. Ref.9 Ref.10
Corresponds to variant rs55971546 [ dbSNP | Ensembl ].
VAR_024837
Natural variant1591V → I. Ref.9
Corresponds to variant rs60380298 [ dbSNP | Ensembl ].
VAR_024838
Natural variant1711S → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Ref.9 Ref.10
Corresponds to variant rs188096 [ dbSNP | Ensembl ].
VAR_004613
Natural variant2431L → P in PBAM; abolishes taurocholate transport. Ref.2
VAR_004614
Natural variant2621T → M in PBAM; abolishes taurocholate transport. Ref.2
Corresponds to variant rs72547505 [ dbSNP | Ensembl ].
VAR_004615
Natural variant2901P → S in a patient with Crohn disease; abolishes taurocholate transport. Ref.1
Corresponds to variant rs56398830 [ dbSNP | Ensembl ].
VAR_004616

Experimental info

Mutagenesis101N → D: Abolishes glycosylation. Ref.8
Mutagenesis3281N → D: No effect on glycosylation. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Q12908 [UniParc].

Last modified February 8, 2011. Version 2.
Checksum: 9794EAA77C3EC4F9

FASTA34837,714
        10         20         30         40         50         60 
MNDPNSCVDN ATVCSGASCV VPESNFNNIL SVVLSTVLTI LLALVMFSMG CNVEIKKFLG 

        70         80         90        100        110        120 
HIKRPWGICV GFLCQFGIMP LTGFILSVAF DILPLQAVVV LIIGCCPGGT ASNILAYWVD 

       130        140        150        160        170        180 
GDMDLSVSMT TCSTLLALGM MPLCLLIYTK MWVDSGSIVI PYDNIGTSLV SLVVPVSIGM 

       190        200        210        220        230        240 
FVNHKWPQKA KIILKIGSIA GAILIVLIAV VGGILYQSAW IIAPKLWIIG TIFPVAGYSL 

       250        260        270        280        290        300 
GFLLARIAGL PWYRCRTVAF ETGMQNTQLC STIVQLSFTP EELNVVFTFP LIYSIFQLAF 

       310        320        330        340 
AAIFLGFYVA YKKCHGKNKA EIPESKENGT EPESSFYKAN GGFQPDEK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U10417 mRNA. Translation: AAC51870.1.
U67674 expand/collapse EMBL AC list , 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.
PIRI38655.
RefSeqNP_000443.1. NM_000452.2.
UniGeneHs.194783.

3D structure databases

ProteinModelPortalQ12908.
SMRQ12908. Positions 32-311.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112444. 1 interaction.
STRING9606.ENSP00000245312.

Chemistry

BindingDBQ12908.
ChEMBLCHEMBL2778.
GuidetoPHARMACOLOGY960.

Protein family/group databases

TCDB2.A.28.1.2. the bile acid:na(+) symporter (bass) family.

PTM databases

PhosphoSiteQ12908.

Polymorphism databases

DMDM322510055.

Proteomic databases

PaxDbQ12908.
PRIDEQ12908.

Protocols and materials databases

DNASU6555.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000245312; ENSP00000245312; ENSG00000125255.
GeneID6555.
KEGGhsa:6555.
UCSCuc001vpy.4. human.

Organism-specific databases

CTD6555.
GeneCardsGC13M103696.
HGNCHGNC:10906. SLC10A2.
HPAHPA004795.
MIM601295. gene.
613291. phenotype.
neXtProtNX_Q12908.
PharmGKBPA318.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0385.
HOGENOMHOG000234524.
HOVERGENHBG006537.
InParanoidQ12908.
KOK14342.
OMANSCVDNA.
OrthoDBEOG7XWPNW.
PhylomeDBQ12908.
TreeFamTF315811.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ12908.
CleanExHS_SLC10A2.
GenevestigatorQ12908.

Family and domain databases

InterProIPR004710. Bil_ac_transpt.
IPR002657. BilAc/Na_symport.
[Graphical view]
PANTHERPTHR10361. PTHR10361. 1 hit.
PfamPF01758. SBF. 1 hit.
[Graphical view]
TIGRFAMsTIGR00841. bass. 1 hit.
ProtoNetSearch...

Other

GeneWikiSLC10A2.
GenomeRNAi6555.
NextBio25507.
PROQ12908.
SOURCESearch...

Entry information

Entry nameNTCP2_HUMAN
AccessionPrimary (citable) accession number: Q12908
Secondary accession number(s): A1L4F4, Q13839
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 8, 2011
Last modified: April 16, 2014
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM