ABCB4 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ABCB4 |
| Official Name | ATP binding cassette subfamily B member 4 [Source:HGNC Symbol;Acc:HGNC:45] |
| Ensembl ID | ENSG00000005471 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily B member 4 |
| Synonyms | ABC21, ATP binding cassette subfamily B member 4, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, P-GP, PGY3, PHOSPHOLIPID FLIPPASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCB4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase activity, coupled to transmembrane movement of substances
- lipid A export permease/ATP-binding protein MsbA
- phospholipid transporter
- type I secretion system ABC transporter, PrtD family
- glucan exporter ATP-binding protein
- linker domain
- Conjugate Transporter-2 (CT2) Family protein
- protein binding
- nitrate transport ATP-binding subunits C and D
- urea ABC transporter, ATP-binding protein UrtE
- heme ABC exporter, ATP-binding protein CcmA
- ABC transporter transmembrane region
- lipid transporter
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- phosphatidylcholine transporter
- thiol reductant ABC exporter, CydC subunit
- energy-coupling factor transporter ATPase
- nickel import ATP-binding protein NikE
- ABC transporter
- ABC transporter, permease/ATP-binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Pathways
Biological processes and signaling networks where the ABCB4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary biliary cirrhosis
- cirrhosis
- liver cancer
- intrahepatic cholestasis of pregnancy
- progressive familial intrahepatic cholestasis type 3
- gallbladder disease type 1
- intrahepatic cholestasis of pregnancy type 3
- progressive familial intrahepatic cholestasis type 1
- cholelithiasis
- gallstone
regulated by
- deoxycholate
- hepatocytes
- 1,2-oleoylphosphatidylcholine
- adenosine triphosphate
- chenodeoxycholic acid
- methylprednisolone
- dexamethasone
- taurochenodeoxycholate
- TP53
- taurocholic acid
regulates
- D-glucose
- phospholipid
- phosphatidylcholine
- rhodamine 6G
- phosphatidylethanolamine
- sphingomyelin
- C6-NBD-PC
- lipid
- pitavastatin
- ABCB4
role in cell
- synthesis in
- cell death
- response by
- efflux in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- apical compartment
- cellular membrane
- focal adhesions
- lysosome
- intercellular junctions
- cytosol
- apical membrane
- Golgi membrane
- nucleoplasm
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCB4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of phospholipid transport
- transmembrane transport
- phospholipid translocation
- lipid homeostasis
- lipid metabolic process
- positive regulation of phospholipid translocation
- bile acid secretion
- positive regulation of cholesterol transport
Cellular Component
Where in the cell the gene product is active
- intercellular canaliculus
- extracellular vesicular exosome
- focal adhesion
- cytoplasm
- membrane raft
- membrane
- cytosol
- clathrin-coated vesicle
- plasma membrane
- apical plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- protein binding
- phospholipid transporter activity