Homo sapiens Gene: ABCB4
Summary
InnateDB Gene IDBG-24949.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCB4
Gene 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 Gene ENSG00000005471
Encoded Proteins
ATP-binding cassette, sub-family B (MDR/TAP), member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:87401697-87480435
Strand Reverse strand
Band q21.12
Transcripts
ENST00000265723 ENSP00000265723
ENST00000359206 ENSP00000352135
ENST00000358400 ENSP00000351172
ENST00000440025 ENSP00000395716
ENST00000453593 ENSP00000392983
ENST00000417608 ENSP00000394511
ENST00000467983
ENST00000467079
ENST00000469770
ENST00000473795
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
GO:0046581 intercellular canaliculus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
PPARA activates gene expression pathway
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
ABC transporters pathway
Bile secretion pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.601011 Hs.654403
RefSeq NM_000443 NM_018849 NM_018850
HUGO
OMIM
CCDS CCDS5605 CCDS5606 CCDS5607
HPRD 01371
IMGT
EMBL
GenPept
RNA Seq Atlas