RAF1 Raf-1 proto-oncogene, serine/threonine kinase
Gene ID: 5894, updated on 22-Apr-2024Gene type: protein coding
Also known as: NS5; CRAF; Raf-1; c-Raf; CMD1NN
- See all available tests in GTR for this gene
- Go to complete Gene record for RAF1
- Go to Variation Viewer for RAF1 variants
Summary
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Dilated cardiomyopathy 1NN | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available | |
| LEOPARD syndrome 2 | See labs |
| Noonan syndrome 5 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2018-09-13) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2018-09-13) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3p25.2
- Sequence:
- Chromosome: 3; NC_000003.12 (12583601..12664117, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAF1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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