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
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With arhgef1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
immunodeficiency 62 Alliance ?Immunodeficiency 62 618459
Associated With arhgef1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA arhgef1b-201 (1) Ensembl 5,965 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations