ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1
Gene ID: 10565, updated on 17-Aug-2024Gene type: protein coding
Also known as: BIG1; P200; DEDISB; ARFGEP1
Summary
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
Associated conditions
| Description | Tests |
|---|---|
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | not available |
| Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. GeneReviews: Not available |
Genomic context
- Location:
- 8q13.2
- Sequence:
- Chromosome: 8; NC_000008.11 (67173511..67343781, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARFGEF1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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