ABCA1 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
Details
| Type | Protein Coding |
| Official Symbol | ABCA1 |
| Official Name | ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29] |
| Ensembl ID | ENSG00000165029 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 1, Tangier disease |
| Synonyms | ABC-1, ATP binding cassette subfamily A member 1, ATP-binding cassette, sub-family A member 1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD |
| 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 ABCA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ABC-2 family transporter protein
- AAA domain, putative AbiEii toxin, Type IV TA system
- phospholipid transporter
- ATP binding
- high-density lipoprotein binding
- daunorubicin resistance ABC transporter ATP-binding subunit
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- syntaxin binding
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- nucleic acid binding domain
- apolipoprotein receptor
- nickel import ATP-binding protein NikE
- retinal-specific rim ABC transporter
- transmembrane receptor
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- protein carrier
- extracellular domain
- ATPase activity, coupled to transmembrane movement of substances
- FtsX-like permease family
- phospholipid binding
- nickel import ATP-binding protein NikD
- walker type A motif
- enzyme binding
- sphingolipid-translocating ATPase
- protein binding
- receptor binding
- lipid transporter
- PEST domain
- ATPase binding
- cobalt transport protein ATP-binding subunit
- binding protein
- phosphatidylcholine transporter
- PDZ binding motif
- ABC transporter
- transporter
Pathways
Biological processes and signaling networks where the ABCA1 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
- metastatic breast cancer
- metabolic syndrome X
- cardiomyopathy
- epithelial cancer
- epithelial neoplasia
- cancer
- asthma
- liver cancer
- pancreatic cancer
- familial high density lipoprotein deficiency
role in cell
- recruitment in
- quantity
- activation in
- expression in
- binding
- response
- apoptosis
- proliferation
- production in
- phosphorylation 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
- membrane fraction
- intracellular membrane-bounded organelle
- intracellular compartment
- cholesterol-rich microdomain
- nonraft domain
- Cytoplasm
- cell surface
- cell borders
- cell periphery
- intracellular space
- apical compartment
- perinuclear region
- cellular membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- apical cell surfaces
- endoplasmic reticulum membrane
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
- lysosomal compartment
- perinuclear space
- growth cone
- neurites
- early endosomes
- late endosomes
- endocytotic vesicle
- microsomal membrane
- membrane rafts
- cellular protrusions
- perikaryon
- axons
- phagosomes
- apical processes
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol metabolic process
- lipoprotein biosynthetic process
- cholesterol homeostasis
- phospholipid homeostasis
- phagocytosis, engulfment
- reverse cholesterol transport
- signal release
- phospholipid translocation
- cellular response to cholesterol
- endosomal transport
- positive regulation of cholesterol efflux
- intracellular cholesterol transport
- response to vitamin B3
- regulation of Cdc42 protein signal transduction
- protein transmembrane transport
- regulation of high-density lipoprotein particle assembly
- platelet dense granule organization
- lysosome organization
- apolipoprotein A-I-mediated signaling pathway
- high-density lipoprotein particle assembly
- G-protein coupled receptor signaling pathway
- peptide secretion
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- protein secretion
- response to laminar fluid shear stress
- cellular response to lipopolysaccharide
- cellular response to retinoic acid
- cellular response to cytokine stimulus
- cholesterol efflux
- cellular response to xenobiotic stimulus
- negative regulation of macrophage derived foam cell differentiation
- negative regulation of cholesterol storage
- phospholipid efflux
- positive regulation of high-density lipoprotein particle assembly
- cellular response to low-density lipoprotein particle stimulus
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endocytic vesicle
- endosome
- perinuclear region of cytoplasm
- intracellular membrane-bounded organelle
- membrane raft
- phagocytic vesicle
- external side of plasma membrane
- Golgi apparatus
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- apolipoprotein binding
- ATPase activity, coupled to transmembrane movement of substances
- protein transmembrane transporter activity
- cholesterol binding
- syntaxin binding
- apolipoprotein A-I receptor activity
- apolipoprotein A-I binding
- sphingolipid-translocating ATPase activity
- high-density lipoprotein particle binding
- receptor binding
- ATP binding
- phospholipid transporter activity
- protein binding
- small GTPase binding
- phosphatidylcholine binding
- ATPase binding