Gene Gene information from NCBI Gene database.
Entrez ID 5894
Gene name Raf-1 proto-oncogene, serine/threonine kinase
Gene symbol RAF1
Synonyms (NCBI Gene)
CMD1NNCRAFNS5Raf-1c-Raf
Chromosome 3
Chromosome location 3p25.2
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 RA
SNPs SNP information provided by dbSNP.
45
SNP ID Visualize variation Clinical significance Consequence
rs3730271 A>C,G,T Pathogenic, likely-pathogenic, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs11549992 G>A Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs80338796 G>A,C Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs80338797 G>C,T Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs80338798 C>T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
310
miRTarBase ID miRNA Experiments Reference
MIRT004418 hsa-miR-125b-5p Western blot 19825990
MIRT004026 hsa-miR-7-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 19073608
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IBA
GO:0000166 Function Nucleotide binding IEA
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0004672 Function Protein kinase activity EXP 9446616
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164760 9829 ENSG00000132155
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04049
Protein name RAF proto-oncogene serine/threonine-protein kinase (EC 2.7.11.1) (Proto-oncogene c-RAF) (cRaf) (Raf-1)
Protein function Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation,
PDB 1C1Y , 1FAQ , 1FAR , 1GUA , 1RFA , 3CU8 , 3IQJ , 3IQU , 3IQV , 3KUC , 3KUD , 3NKX , 3O8I , 3OMV , 4FJ3 , 4G0N , 4G3X , 4IEA , 4IHL , 6NTC , 6NTD , 6PTS , 6PTW , 6VJJ , 6XGU , 6XGV , 6XHA , 6XHB , 6XI7 , 7JHP , 7Z37 , 7Z38 , 8A68 , 8A6F , 8A6H , 8ATR , 8ATS , 8AV0 , 8CHF , 8CPD , 8EPW , 8GAE , 8GFT , 8JOF , 8JOG , 8S42 , 8T74 , 8T75 , 8U1L , 9AXA , 9AXC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02196 RBD 57 129 Raf-like Ras-binding domain Domain
PF00130 C1_1 139 187 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF07714 PK_Tyr_Ser-Thr 349 606 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: In skeletal muscle, isoform 1 is more abundant than isoform 2. {ECO:0000269|PubMed:1886707}.
Sequence
MEHIQGAWKTISNGFGFKDAVFDGSSCISPTIVQQFGYQRRASDDGKLTDPSKTSNTIRV
FLPNKQRTVVNVRNGMSLHDCLMKALKVRGLQPECCAVFRLLHEHKGKKARLDWNTDAAS
LIGEELQVD
FLDHVPLTTHNFARKTFLKLAFCDICQKFLLNGFRCQTCGYKFHEHCSTKV
PTMCVDW
SNIRQLLLFPNSTIGDSGVPALPSLTMRRMRESVSRMPVSSQHRYSTPHAFTF
NTSSPSSEGSLSQRQRSTSTPNVHMVSTTLPVDSRMIEDAIRSHSESASPSALSSSPNNL
SPTGWSQPKTPVPAQRERAPVSGTQEKNKIRPRGQRDSSYYWEIEASEVMLSTRIGSGSF
GTVYKGKWHGDVAVKILKVVDPTPEQFQAFRNEVAVLRKTRHVNILLFMGYMTKDNLAIV
TQWCEGSSLYKHLHVQETKFQMFQLIDIARQTAQGMDYLHAKNIIHRDMKSNNIFLHEGL
TVKIGDFGLATVKSRWSGSQQVEQPTGSVLWMAPEVIRMQDNNPFSFQSDVYSYGIVLYE
LMTGELPYSHINNRDQIIFMVGRGYASPDLSKLYKNCPKAMKRLVADCVKKVKEERPLFP
QILSSI
ELLQHSLPKINRSASEPSLHRAAHTEDINACTLTTSPRLPVF
Sequence length 648
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
65
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Likely pathogenic; Pathogenic rs397516828, rs80338796, rs121434594, rs80338799, rs397516826, rs397516830, rs730881002 RCV004019594
RCV002412108
RCV002399323
RCV000618568
RCV000621393
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Central nervous system germ cell tumor Likely pathogenic; Pathogenic rs397516828 RCV006254333
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1NN Likely pathogenic; Pathogenic rs397516828, rs587777586, rs886039607, rs80338796, rs397516830, rs121434594, rs730881003 RCV001542564
RCV000131334
RCV003224248
RCV000515222
RCV000763093
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Embryonal rhabdomyosarcoma Pathogenic rs80338796 RCV006253598
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations