RAPH1 Gene Summary [Human]
This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | RAPH1 |
| Official Name | Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [Source:HGNC Symbol;Acc:HGNC:14436] |
| Ensembl ID | ENSG00000173166 |
| Bio databases IDs | |
| Aliases | Ras association (RalGDS/AF-6) and pleckstrin homology domains 1, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 |
| Synonyms | 9430025M21RIK, ALS2CR18, ALS2CR9, C730009O10Rik, KIAA1681, LAMELLIPODIN, LPD, PREL-2, RalGDS/AF-6, Ras association (RalGDS/AF-6) and pleckstrin homology domains 1, RMO1 |
| 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 RAPH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ras association domain
- Ubl1_cv_Nsp3_N-like
- PH domain
- protein binding
- Pleckstrin homology-like domain
- Ena/VASP-binding motif
- Sh3 domain binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- epithelial neoplasia
- cancer
- coronary artery disease
- edema
- osteoarthritis
- rectal prolapse
- organismal death
- psoriatic arthritis
- diverticular disease
role in cell
- quantity
- activation in
- migration
- development
- outgrowth
- outgrowth in
- development in
- endocytosis in
- uptake in
- disappearance 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
- dendrite tip
- cytosol
- nuclear bodies
- membrane processes
- cell membrane leading edge
- dendrites
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- axon extension
Cellular Component
Where in the cell the gene product is active
- nuclear body
- cytoskeleton
- filopodium
- cytosol
- plasma membrane
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- protein binding