ZFIN ID: ZDB-GENE-030722-5
Gene Name: Rho guanine nucleotide exchange factor (GEF) 1a
Gene Symbol: arhgef1a    Nomenclature History

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Previous Names: arhgef1, cb473 (1), zgc:158261

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 19 Mapping Details/Browsers
Description: Predicted to have Rho guanyl-nucleotide exchange factor activity and microtubule binding activity. Predicted to be involved in several processes, including actin filament organization; positive regulation of neuron differentiation; and regulation of Rho protein signal transduction. Predicted to localize to cytoskeleton and ruffle membrane. Is expressed in several structures, including blood vessel; hindbrain neural plate; immature eye; mesoderm; and nervous system. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with midbrain and hindbrain malformations and primary immunodeficiency disease. Orthologous to several human genes including ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2).
Genome Resources: Alliance (1),  Gene:368266 (1),  Ensembl(GRCz11):ENSDARG00000040380 (2)
PHENOTYPE No data available
DISEASE ASSOCIATED WITH arhgef1a HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
?Immunodeficiency 62 618459
DISEASE ASSOCIATED WITH arhgef1a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process intracellular signal transduction (more)
Cellular Component cytoskeleton (more)
Molecular Function guanyl-nucleotide exchange factor activity (more)
GO Terms (all 11)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA arhgef1a-201 (1)    Ensembl 4238
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM arhgef1a No data available
MARKER RELATIONSHIPS
arhgef1a Contained in: [BAC] DKEY-240H12 (1) (order this)
arhgef1a Encodes: [EST] cb473 (1) (order this)
[cDNA] MGC:158261 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001081631 (1) 4255 nt
Genomic GenBank:CT573147 (1) 168801 nt
Select Tool
Polypeptide UniProtKB:A2RUX1 (1) 935 aa
Sequence Information (all 15)
ORTHOLOGY for arhgef1a ( Chr: 19 )
CITATIONS (23)