RASGRF1 Ras protein specific guanine nucleotide releasing factor 1
Gene ID: 5923, updated on 27-Aug-2024Gene type: protein coding
Also known as: GNRP; GRF1; CDC25; GRF55; CDC25L; H-GRF55; PP13187; ras-GRF1
- See all available tests in GTR for this gene
- Go to complete Gene record for RASGRF1
- Go to Variation Viewer for RASGRF1 variants
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. GeneReviews: Not available | |
| A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available | |
| A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. GeneReviews: Not available | |
| Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.1
- Sequence:
- Chromosome: 15; NC_000015.10 (78959906..79090780, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RASGRF1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.