ATP8A1 Gene Summary [Human]
The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ATP8A1 |
| Official Name | ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531] |
| Ensembl ID | ENSG00000124406 |
| Bio databases IDs | |
| Aliases | ATPase phospholipid transporting 8A1 |
| Synonyms | AI481521, AI853962, Aminophospholipid Translocase, APLT, Atp3a2, ATPASEII, ATPase phospholipid transporting 8A1, ATPIA, ATPP2, AW743152, AW822227, B230107D19Rik, ClassI, Homo sapiens clone 23664 and 23905 mRNA sequence |
| 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 ATP8A1 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
- Mg2+-ATPase
- Phospholipid-translocating ATPase N-terminal
- protein binding
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- Phospholipid-translocating P-type ATPase C-terminal
- lipid transporter
- HAD-superfamily hydrolase, subfamily IIB
- aminophospholipid transporter
- phospholipid-translocating P-type ATPase, flippase
- potassium and/or sodium efflux P-type ATPase, fungal-type
- Cation transport ATPase (P-type)
- Haloacid Dehalogenase-like 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
- non-insulin-dependent diabetes mellitus
- schizophrenia
- lung adenocarcinoma
- lung adenocarcinoma formation
- insomnia
- Alzheimer disease
regulates
- phosphatidylserine
- ion
role in cell
- migration
- 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.
- Cytoplasm
- synaptic vesicle membrane
- glutaminergic synapse
- intracellular membrane-bounded organelle
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- secretory granule membrane
- specific granule membrane
- cytosol
- lysosome membrane
- synaptic vesicles
- synapse
- cytoplasmic vesicles
- chromaffin vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP8A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phospholipid translocation
- ion transmembrane transport
- positive regulation of phospholipid translocation
- learning
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- chromaffin granule membrane
- endoplasmic reticulum
- Golgi apparatus
- organelle membrane
- plasma membrane
- trans-Golgi network
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- cytosol
- cytoplasmic vesicle
- synaptic vesicle membrane
- azurophil granule membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- magnesium ion binding
- ATP binding
- protein binding
- cation-transporting ATPase activity