ABCA7 Gene Summary [Human]
The 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 ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | ABCA7 |
| Official Name | ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37] |
| Ensembl ID | ENSG00000064687 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 7 |
| Synonyms | Abc51, ABCA-SSN, ABCX, AD9, ATP binding cassette subfamily A member 7, ATP-binding cassette, sub-family A member 7 |
| 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 ABCA7 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
- phospholipid transporter
- nickel import ATP-binding protein NikD
- daunorubicin resistance ABC transporter ATP-binding subunit
- protein binding
- nitrate transport ATP-binding subunits C and D
- Domain of unknown function (DUF4162)
- heme ABC exporter, ATP-binding protein CcmA
- lipid transporter
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- cobalt transport protein ATP-binding subunit
- phosphatidylcholine transporter
- apolipoprotein receptor
- nickel import ATP-binding protein NikE
- retinal-specific rim ABC transporter
- ABC transporter
- transmembrane receptor
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- Alzheimer disease
- susceptibility to Alzheimer disease type 9
- late-onset Alzheimer disease
- early-onset Alzheimer disease
- respiratory tract infectious disorder
- dementia
- splenomegaly
- B-cell non-Hodgkin lymphoma
- B-cell non-Hodgkin disease
role in cell
- molecular cleavage in
- phosphorylation in
- synthesis in
- quantity
- phagocytosis by
- assembly
- phagocytosis in
- processing in
- density
- long-term potentiation 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
- cell junction
- Cytoplasm
- cell surface
- intracellular space
- Golgi Apparatus
- lipid droplets
- microsome
- membrane ruffles
- apical membrane
- glial cell projections
- phagocytic cups
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of endocytosis
- transmembrane transport
- apolipoprotein A-I-mediated signaling pathway
- high-density lipoprotein particle assembly
- positive regulation of protein localization at cell surface
- negative regulation of MAPK cascade
- positive regulation of beta-amyloid clearance
- visual learning
- memory
- negative regulation of amyloid precursor protein biosynthetic process
- phospholipid translocation
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of cholesterol efflux
- phagocytosis
- cholesterol efflux
- peptide cross-linking
- positive regulation of phagocytosis
- regulation of lipid metabolic process
- protein localization to nucleus
- phospholipid efflux
- beta-amyloid formation
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- intracellular membrane-bounded organelle
- ruffle membrane
- cell junction
- Golgi apparatus
- Golgi membrane
- endoplasmic reticulum
- phagocytic cup
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- phospholipid transporter activity
- apolipoprotein A-I receptor activity