ABCA13 Gene Summary [Human]
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ABCA13 |
| Official Name | ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638] |
| Ensembl ID | ENSG00000179869 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 13 |
| Synonyms | 9830132L24, A930002G16Rik, ATP binding cassette subfamily A member 13, ATP-binding cassette, sub-family A member 13 |
| 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 ABCA13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- nickel import ATP-binding protein NikD
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- daunorubicin resistance ABC transporter ATP-binding subunit
- retinal-specific rim ABC transporter
- nickel import ATP-binding protein NikE
- ABC transporter
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- prostate cancer
- diabetic nephropathy
- major depression
- acute myeloid leukemia
- progression free survival
- idiopathic inflammatory myopathy
- cleft palate
- cleft lip
- drug allergy
role in cell
- endocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- intracellular membrane-bounded organelle
- Plasma Membrane
- vesicles
- secretory granule membrane
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- transmembrane transport
- positive regulation of synaptic vesicle endocytosis
- positive regulation of cholesterol transport
- ceramide transport
Cellular Component
Where in the cell the gene product is active
- secretory granule membrane
- intracellular membrane-bounded organelle
- azurophil granule membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- lipid transporter activity