TMEM30A Gene Summary [Human]
Enables aminophospholipid flippase activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TMEM30A |
| Official Name | transmembrane protein 30A [Source:HGNC Symbol;Acc:HGNC:16667] |
| Ensembl ID | ENSG00000112697 |
| Bio databases IDs | |
| Aliases | transmembrane protein 30A |
| Synonyms | 2010200I23Rik, C6orf67, CDC50A, D9Wsu20e, transmembrane protein 30A |
| 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 TMEM30A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aminophospholipid transporter
- protein binding
- structural molecule
- LEM3 (ligand-effect modulator 3) family / CDC50 family
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diffuse large B-cell lymphoma
- seizures
- B-cell non-Hodgkin lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
role in cell
- loss
- migration
- development
- exposure in
- cell spreading
- excitability
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
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- secretory granule membrane
- specific granule membrane
- lysosome membrane
- endosomal membrane
- insulin secretory granules
- synaptic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM30A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- drug transmembrane transport
- phospholipid translocation
- protein localization in endosome
- aminophospholipid transport
- positive regulation of protein exit from endoplasmic reticulum
- positive regulation of phospholipid translocation
- positive regulation of neuron projection development
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- late endosome membrane
- transport vesicle membrane
- membrane
- endoplasmic reticulum
- Golgi apparatus
- azurophil granule membrane
- plasma membrane
- apical plasma membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- aminophospholipid transporter activity
- protein binding
- structural molecule activity