TMEM63A Gene Summary [Human]
Enables mechanosensitive ion channel activity. Predicted to be involved in cation transmembrane transport. Located in centriolar satellite and lysosomal membrane. Implicated in hypomyelinating leukodystrophy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TMEM63A |
| Official Name | transmembrane protein 63A [Source:HGNC Symbol;Acc:HGNC:29118] |
| Ensembl ID | ENSG00000196187 |
| Bio databases IDs | |
| Aliases | transmembrane protein 63A |
| Synonyms | BC014795, HLD19, KIAA0792, RGD1306829, Tmem6, Tmem64a, transmembrane protein 63A |
| 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 TMEM63A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- osmosensor
- Calcium-dependent channel, 7TM region, putative phosphate
- channel/pore class transporter
- Late exocytosis, associated with Golgi transport
- inorganic uptake permease
- protein binding
- mechanically-gated ion channel
- Cytosolic domain of 10TM putative phosphate transporter
- ion channel
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- intracellular membrane-bounded organelle
- centrosome
- tertiary granule membrane
- specific granule membrane
- lysosome membrane
- endosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM63A gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- centriolar satellite
- tertiary granule membrane
- plasma membrane
- lysosomal membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- calcium activated cation channel activity
- mechanically-gated ion channel activity
- protein binding