RPH3A Gene Summary [Human]
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | RPH3A |
| Official Name | rabphilin 3A [Source:HGNC Symbol;Acc:HGNC:17056] |
| Ensembl ID | ENSG00000089169 |
| Bio databases IDs | |
| Aliases | rabphilin 3A |
| Synonyms | 2900002P20Rik, rabphilin, RABPHILIN3, RABPHILIN 3A |
| 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 RPH3A 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 binding
- calcium ion binding
- calcium-dependent phospholipid binding
- protein binding
- phosphate binding
- phosphatidylinositol binding
- FYVE domain like superfamily
- binding protein
- Rab binding domain
- zinc ion binding
- phosphatidylinositol-4,5-bisphosphate binding
- PHD finger superfamily
- zinc finger domain
- Rab3a binding domain
- Protein kinase C conserved region 2 (CalB)
- selenium binding
- transporter
- C2 domain
Pathways
Biological processes and signaling networks where the RPH3A 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
- Alzheimer disease
- metabolic syndrome X
- non-insulin-dependent diabetes mellitus
- coronary artery disease
- Huntington disease
- epilepsy
- open-angle glaucoma
regulates
- growth hormone
- neurotransmitter
- hormone
- alpha actinin
role in cell
- exocytosis
- organization
- docking
- docking in
- priming
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
- synaptic vesicle membrane
- cellular membrane
- vesicles
- postsynaptic membrane
- dendritic spines
- synaptic vesicles
- neuromuscular junctions
- neurites
- synaptosomes
- synapse
- secretory granules
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RPH3A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic vesicle priming
- regulation of calcium ion-dependent exocytosis
- intracellular protein transport
- exocytosis
Cellular Component
Where in the cell the gene product is active
- postsynaptic membrane
- synaptic vesicle
- secretory granule
- dendritic spine
- cytosol
- Golgi apparatus
- macromolecular complex
- synaptic vesicle membrane
- synapse
- extrinsic to membrane
- neuron projection
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- zinc ion binding
- protein binding
- selenium binding
- calcium ion binding
- small GTPase binding
- phosphate ion binding
- calcium-dependent phospholipid binding
- inositol 1,4,5 trisphosphate binding