CHN1 Gene Summary [Human]
This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
Details
| Type | Protein Coding |
| Official Symbol | CHN1 |
| Official Name | chimerin 1 [Source:HGNC Symbol;Acc:HGNC:1943] |
| Ensembl ID | ENSG00000128656 |
| Bio databases IDs | |
| Aliases | chimerin 1, Chimerin 1 (GTPase-activating protein, rho, 2), chimaerin 1 |
| Synonyms | 0610007I19RIK, 0710001E19RIK, 1700112L09Rik, 2900046J01RIK, alpha-Chimaerin, ARHGAP2, Chimerin, chimerin 1, CHN, DURS2, NC, N-chimaerin, RHOGAP2, α-Chimaerin |
| 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 CHN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGAP domain
- phorbol ester receptor
- protein kinase C conserved region 1 (C1 domain) superfamily
- Src homology 2 (SH2) domain
- GTPase activator
- ephrin receptor binding
- protein binding
- GTPase Activating Protein domain
- GTPase-activator protein for Rho-like GTPases
- RhoGAP
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gait disturbance
- Duane retraction syndrome 2
- autosomal dominant Robinow syndrome type 2
- tonic seizure
- Huntington disease
- Mobius syndrome
role in cell
- size
- formation
- morphogenesis
- morphology
- reorganization
- ruffling
- collapse
- morphogenesis in
- collapse in
- phagocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- microsomal fraction
- plasma membrane fraction
- synaptic plasma membrane fractions
- membrane fraction
- Cytoplasm
- perinuclear region
- cytosol
- dendritic spines
- growth cone
- neurites
- perikaryon
- dendrites
- dendritic shafts
- detergent-soluble fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- motor axon guidance
- regulation of axonogenesis
- regulation of small GTPase mediated signal transduction
- regulation of GTPase activity
- ephrin receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- GTPase activator activity
- ephrin receptor binding