InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCB4

Summary

InnateDB Protein

IDBP-24953.7

Last Modified

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

Gene Symbol

ABCB4

Protein Name

ATP-binding cassette, sub-family B (MDR/TAP), member 4

Synonyms

ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3; PFIC-3; PGY3;

Species

Homo sapiens

Ensembl Protein

ENSP00000352135

InnateDB Gene

IDBG-24949 (ABCB4)

Protein Structure

UniProt Annotation

Function

Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269PubMed:11313315, ECO:0000269PubMed:12671900, ECO:0000269PubMed:9419367}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. {ECO:0000269PubMed:10767346, ECO:0000269PubMed:12746424, ECO:0000269PubMed:15077010}. Note=The disease is caused by mutations affecting the gene represented in this entry.Gallbladder disease 1 (GBD1) [MIM:600803]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269PubMed:11313316, ECO:0000269PubMed:12891548}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0008559	xenobiotic-transporting ATPase activity
GO:0016301	kinase activity
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006629	lipid metabolic process
GO:0006810	transport
GO:0006855	drug transmembrane transport
GO:0042493	response to drug
GO:0042908	xenobiotic transport
GO:0044255	cellular lipid metabolic process
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

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR010488 Zeta toxin domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR019195 ABC transporter, ATPase, putative
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005
PF06414
PF09818

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P21439