RPH3AL Gene Summary [Human]
The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | RPH3AL |
| Official Name | rabphilin 3A like (without C2 domains) [Source:HGNC Symbol;Acc:HGNC:10296] |
| Ensembl ID | ENSG00000181031 |
| Bio databases IDs | |
| Aliases | rabphilin 3A like (without C2 domains), No C2 domains protein |
| Synonyms | 6530413F01RIK, AI551877, Gm1753, NOC2, rabphilin 3A-like (without C2 domains) |
| 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 RPH3AL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FYVE domain like superfamily
- LIM-domain binding
- cytoskeletal protein binding
- Rab binding domain
- PHD finger superfamily
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- insulin
- D-glucose
- Ins1
disease
- papillary thyroid carcinoma
- systemic lupus erythematosus
- idiopathic intracranial hypertension
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- papillary thyroid cancer
- nonalcoholic fatty liver disease
- age-related macular degeneration
- pancytopenia
role in cell
- accumulation
- growth
- exocytosis by
- accumulation 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.
- Plasma Membrane
- Cytoplasm
- secretory granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RPH3AL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- glucose homeostasis
- positive regulation of insulin secretion
- intracellular protein transport
- regulation of calcium ion-dependent exocytosis
- exocytosis
- negative regulation of G-protein coupled receptor protein signaling pathway
Cellular Component
Where in the cell the gene product is active
- transport vesicle membrane
- cytoplasm
- synapse
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- small GTPase binding
- cytoskeletal protein binding