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RAF1 Raf-1 proto-oncogene, serine/threonine kinase

Gene ID: 5894, updated on 17-Jun-2024
Gene type: protein coding
Also known as: NS5; CRAF; Raf-1; c-Raf; CMD1NN

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

DescriptionTests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Dilated cardiomyopathy 1NN
MedGen: C4014656OMIM: 615916GeneReviews: Not available
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 2See labs
Noonan syndrome 5
MedGen: C1969057OMIM: 611553GeneReviews: Noonan Syndrome
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-09-13)

ClinGen Genome Curation Page
Triplosensitivity

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

Links

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