Gene
arhgef1
- ID
- ZDB-GENE-060616-136
- Name
- Rho guanine nucleotide exchange factor (GEF) 1
- Symbol
- arhgef1 Nomenclature History
- Previous Names
-
- arhgef1b (1)
- im:7155372
- zgc:136551
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have G protein-coupled receptor binding activity; GTPase activator activity; and Rho guanyl-nucleotide exchange factor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and intracellular signal transduction. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Is expressed in several structures, including adaxial cell; immature eye; nervous system; neural plate; and pericardial region. Orthologous to human ARHGEF1 (Rho guanine nucleotide exchange factor 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7155372 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 62 | Alliance | ?Immunodeficiency 62 | 618459 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR001331 | Guanine-nucleotide dissociation stimulator, CDC24, conserved site |
Domain | IPR000219 | Dbl homology (DH) domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR015212 | Regulator of G protein signalling-like domain |
Domain | IPR037887 | p115RhoGEF, RGS domain |
Domain | IPR041020 | ARHGEF1-like, PH domain |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
Homologous_superfamily | IPR036305 | RGS domain superfamily |
Homologous_superfamily | IPR044926 | RGS, subdomain 2 |
Domain Details Per Protein
Protein | Length | ARHGEF1-like, PH domain | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | p115RhoGEF, RGS domain | PH-like domain superfamily | Pleckstrin homology domain | Regulator of G protein signalling-like domain | RGS domain superfamily | RGS, subdomain 2 |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9NZA7
|
1071 | ||||||||||
UniProtKB:A0A8M9PMH6
|
1002 | ||||||||||
UniProtKB:A0A8M6YTG6
|
1061 | ||||||||||
UniProtKB:A0A8M9PD45
|
1081 | ||||||||||
UniProtKB:A0A8M9PD48
|
1026 | ||||||||||
UniProtKB:F1Q4Y0
|
1005 | ||||||||||
UniProtKB:A0A8M9P7X6
|
1053 | ||||||||||
UniProtKB:A0A8M9PJI7
|
862 | ||||||||||
UniProtKB:A0A8M9P7X5
|
1082 | ||||||||||
UniProtKB:A0A8M9PJI2
|
1073 | ||||||||||
UniProtKB:A0A8M9PMH2
|
1078 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
arhgef1b-201
(1)
|
Ensembl | 5,965 nt |
Interactions and Pathways
No data available
Plasmids
No data available