InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCB11

Summary

InnateDB Protein

IDBP-74354.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCB11

Protein Name

ATP-binding cassette, sub-family B (MDR/TAP), member 11

Synonyms

ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4; SPGP;

Species

Homo sapiens

Ensembl Protein

ENSP00000263817

InnateDB Gene

IDBG-74352 (ABCB11)

Protein Structure

UniProt Annotation

Function

Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269PubMed:10579978, ECO:0000269PubMed:11815775, ECO:0000269PubMed:9806540}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269PubMed:15300568, ECO:0000269PubMed:16039748}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	4 [view]
Protein-DNA	10 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005524	ATP binding
GO:0008554	sodium-exporting ATPase activity, phosphorylative mechanism
GO:0015126	canalicular bile acid transmembrane transporter activity
GO:0015432	bile acid-exporting ATPase activity
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006699	bile acid biosynthetic process
GO:0006810	transport
GO:0008206	bile acid metabolic process
GO:0015721	bile acid and bile salt transport
GO:0015722	canalicular bile acid transport
GO:0035725	sodium ion transmembrane transport
GO:0044281	small molecule metabolic process
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0045177	apical part of cell
GO:0046581	intercellular canaliculus
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O95342