Gene
chn1
- ID
- ZDB-GENE-040426-1934
- Name
- chimerin 1
- Symbol
- chn1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits GTPase activator activity and phorbol ester receptor activity. Involved in oculomotor nerve formation and positive regulation of GTPase activity. Human ortholog(s) of this gene implicated in Duane retraction syndrome. Is expressed in several structures, including central nervous system; digestive system; integument; pharyngeal arch; and testis. Orthologous to human CHN1 (chimerin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56160 (6 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Duane retraction syndrome | Alliance | Duane retraction syndrome 2 | 604356 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Duane retraction syndrome | rw0Tg; vu19Tg + MO1-chn1 | standard conditions | Zhang et al., 2023 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000198 | Rho GTPase-activating protein domain |
| Domain | IPR000980 | SH2 domain |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR020454 | Diacylglycerol/phorbol-ester binding |
| Domain | IPR035840 | Chimaerin, SH2 domain |
| Domain | IPR037860 | Chimaerin, RhoGAP domain |
| Family | IPR017356 | Chimaerin |
| Family | IPR051854 | Rho-type GTPase-activating protein |
| Homologous_superfamily | IPR008936 | Rho GTPase activation protein |
| Homologous_superfamily | IPR036860 | SH2 domain superfamily |
| Homologous_superfamily | IPR046349 | C1-like domain superfamily |
Domain Details Per Protein
| Protein | Length | C1-like domain superfamily | Chimaerin | Chimaerin, RhoGAP domain | Chimaerin, SH2 domain | Diacylglycerol/phorbol-ester binding | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Rho GTPase-activating protein domain | Rho GTPase activation protein | Rho-type GTPase-activating protein | SH2 domain | SH2 domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZUT6
|
459 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available