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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1628
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs397516828, rs80338796, rs121434594, rs80338799, rs397516826, rs397516830, rs730881002 RCV004019594
RCV002412108
RCV002399323
RCV000618568
RCV000621393
RCV004018717
RCV002408497
RCV004668748
Central nervous system germ cell tumor Likely pathogenic; Pathogenic rs397516828 RCV006254333
Dilated cardiomyopathy 1NN Likely pathogenic; Pathogenic rs397516828, rs587777586, rs886039607, rs80338796, rs397516830, rs121434594, rs730881003 RCV001542564
RCV000131334
RCV003224248
RCV000515222
RCV000763093
RCV000763094
RCV003444149
Embryonal rhabdomyosarcoma Pathogenic rs80338796 RCV006253598
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs372738063, rs141791080, rs61762461 RCV005888892
RCV005888897
RCV005901575
Cholangiocarcinoma Benign rs5746223 RCV005922970
Colorectal cancer Likely benign; Benign rs142942142, rs141791080 RCV005900888
RCV005888898
Familial cancer of breast Benign rs141791080 RCV005888894
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 34224111
Adenocarcinoma of Lung Associate 24569458, 26840709, 35948545
Alzheimer Disease Associate 17064357, 37418137
Arrhythmias Cardiac Associate 36171012
Arthritis Rheumatoid Associate 40045304
Ascites Associate 23321623
Astrocytoma Associate 11278920, 27810072, 28448514, 28453743
Autistic Disorder Associate 21848643
Bone Neoplasms Associate 23199169
Brain Neoplasms Associate 32918774, 37399073