VPS13A Gene Summary [Human]
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | VPS13A |
| Official Name | vacuolar protein sorting 13 homolog A [Source:HGNC Symbol;Acc:HGNC:1908] |
| Ensembl ID | ENSG00000197969 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13 homolog A, chorein, bridge-like lipid transfer protein family member 5A |
| Synonyms | 4930425F11, 4930516E05RIK, 4930543C13RIK, 9930023P20, BLTP5A, CHAC, CHOREIN, D330038K10Rik, mKIAA0986, RGD1311340, vacuolar protein sorting 13A, vacuolar protein sorting 13 homolog A |
| 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 VPS13A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vacuolar-sorting-associated 13 protein C-terminal
- N-terminal region of Chorein or VPS13
- Repeating coiled region of VPS13
- Vacuolar sorting-associated protein 13, N-terminal
- protein binding
- Autophagy-related protein C terminal domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthenozoospermia
- choreaacanthocytosis
- organismal death
- gait disturbance
- gliosis
- acanthocytosis
- anisopoikilocytosis
role in cell
- apoptosis
- differentiation
- accumulation in
- acetylation in
- cell viability
- survival
- depolarization
- morphology
- accumulation
- response by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum mitochondria contact site
- secretory granule lumen
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- lipid droplets
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial outer membrane
- lysosome membrane
- endosomal membrane
- sperm midpiece
- neurites
- secretory granules
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VPS13A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- protein retention in Golgi apparatus
- lipid transport
- locomotory behavior
- sperm motility
- autophagy
- sperm mitochondrion organization
- protein localization
- nervous system development
- protein targeting to vacuole
- Golgi to endosome transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lipid particle
- mitochondrial membrane
- sperm midpiece
- cytosol
- ER-mitochondrion membrane contact site
- endosome membrane
- Golgi apparatus
- mitochondrial outer membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding