LongevityMap Gene
Gene details
- HGNC symbol
- RAF1
- Aliases
- NS5; CRAF; Raf-1; c-Raf; CMD1NN
- Common name
- Raf-1 proto-oncogene, serine/threonine kinase
- Description
- 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]
- Cytogenetic Location
- 3p25.2
- UCSC Genome Browser
- View 3p25.2 on the UCSC genome browser
- OMIM
- 164760
- Ensembl
- ENSG00000132155
- UniProt/Swiss-Prot
- A0A0S2Z4L5_HUMAN
- Entrez Gene
- 5894
- UniGene
- 159130
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- lin-45
- Danio rerio
- raf1b
- Danio rerio
- raf1a
- Drosophila melanogaster
- phl
- Mus musculus
- Raf1
- Rattus norvegicus
- Raf1
In other databases
- CellAge
- This gene is present as RAF1
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs1532533
- Reference