Abca4 Gene Summary [Mouse]
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. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | Abca4 |
| Official Name | ATP-binding cassette, sub-family A (ABC1), member 4 [Source:MGI Symbol;Acc:MGI:109424] |
| Ensembl ID | ENSMUSG00000028125 |
| Bio databases IDs | |
| Aliases | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Synonyms | ABC10, ABCR, ARMD2, ATP binding cassette subfamily A member 4, ATP-binding cassette, sub-family A member 4, CORD3, D430003I15Rik, FFM, RMP, RP19, STGD, STGD1 |
| Species | Mouse, Mus musculus |
| 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 mouse Abca4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid transporter
- ATP-binding domain
- ATP binding
- 11-cis retinal binding
- daunorubicin resistance ABC transporter ATP-binding subunit
- retinoid binding
- nitrate transport ATP-binding subunits C and D
- ATPase
- heme ABC exporter, ATP-binding protein CcmA
- nucleotide-binding domain
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- all-trans retinal binding
- nickel import ATP-binding protein NikE
- retinal-specific rim ABC transporter
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- ATPase activity, coupled to transmembrane movement of substances
- nickel import ATP-binding protein NikD
- GTPase
- lipid transporter
- organic alcohol transporter
- transmembrane domain
- ABC transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal degeneration
- retinitis pigmentosa
- early-onset severe retinal dystrophy
- retinal dystrophy
- Stargardt disease 1
- cone-rod dystrophy
- Stargardt disease
- retinitis pigmentosa type 19
- hereditary disorder
- fundus flavimaculatus
role in cell
- number
- enlargement
- degeneration
- activation
- invasion
- abnormal morphology
- maintenance
- recovery
- electrophysiology
- ferroptosis
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
- cytoplasmic vesicle membrane
- cellular membrane
- Endoplasmic Reticulum
- membrane compartment
- photoreceptor outer segments
- cytoplasmic vesicles
- endolysosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Abca4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- phospholipid transfer to membrane
- phototransduction, visible light
- transmembrane transport
- retinoid metabolic process
- phospholipid translocation
- photoreceptor cell maintenance
- retinol transport
- retinal metabolic process
- visual perception
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- membrane
- cytoplasmic vesicle
- endoplasmic reticulum
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- all-trans retinal binding
- ATPase activity
- ATP binding
- 11-cis retinal binding
- ATPase activity, coupled to transmembrane movement of substances
- phospholipid transporter activity
- GTPase activity
- retinol transporter activity
- retinoid binding