ATP6AP1 Gene Summary [Human]
This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ATP6AP1 |
| Official Name | ATPase H+ transporting accessory protein 1 [Source:HGNC Symbol;Acc:HGNC:868] |
| Ensembl ID | ENSG00000071553 |
| Bio databases IDs | |
| Aliases | ATPase H+ transporting accessory protein 1, vacuolar ATPase subunit S1, X-associated protein 3 |
| Synonyms | 16A, AC45, AI316502, ATP6IP1, ATP6S1, ATPase H+ transporting accessory protein 1, ATPase, H+ transporting, lysosomal accessory protein 1, AW108110, C7-1, CF2, mFLJ00383, Vacuolar ATP synthase subunit s1, V-ATPase S1 subunit, VATPS1, XAP-3 |
| 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 ATP6AP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase stimulator
- Lysosome-associated membrane glycoprotein (Lamp)
- H+-transporting two-sector ATPase
- enzyme binding
- V-type proton ATPase subunit S1, luminal domain
- protein binding
- transporter
- V0 complex accessory subunit Ac45/VOA1 transmembrane domain
Pathways
Biological processes and signaling networks where the ATP6AP1 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
- congenital disorder of glycosylation type 2
- immunodeficiency 47
- placental cancer
role in cell
- activity
- replication in
- growth
- morphology
- invasiveness
- osteoclastogenesis
- endocytosis by
- Clathrin mediated endocytosis by
- homeostasis in
- transit 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.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- synaptic vesicle membrane
- cellular membrane
- endosomal membrane
- synaptic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP6AP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- osteoclast development
- intracellular pH reduction
- endosomal lumen acidification
- lysosomal lumen acidification
- vacuolar acidification
- regulation of cellular pH
Cellular Component
Where in the cell the gene product is active
- proton-transporting two-sector ATPase complex
- proton-transporting V-type ATPase complex
- Golgi membrane
- plasma membrane
- lysosomal membrane
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- membrane
- endosome membrane
- synaptic vesicle membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- small GTPase binding
- ATPase activator activity