Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5894
Gene name Gene Name - the full gene name approved by the HGNC.
Raf-1 proto-oncogene, serine/threonine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAF1
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1NN, CRAF, NS5, Raf-1, c-Raf
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004418 hsa-miR-125b-5p Western blot 19825990
MIRT004026 hsa-miR-7-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19073608
MIRT004026 hsa-miR-7-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19073608
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164760 9829 ENSG00000132155
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dilated Cardiomyopathy Dilated cardiomyopathy 1NN rs397516828, rs587777586, rs730881003 N/A
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 rs727505017, rs80338797, rs121434594 N/A
LEOPARD Syndrome leopard syndrome 2 rs80338796, rs80338797, rs397516827, rs397516813, rs1575573330 N/A
Noonan Syndrome noonan syndrome 5, noonan syndrome, Noonan syndrome and Noonan-related syndrome, noonan syndrome 1, noonan syndrome 3 rs397516826, rs397516829, rs121434594, rs730881003, rs727505017, rs397516828, rs80338799, rs727503384, rs3730271, rs80338796, rs80338797, rs397516815, rs397516830, rs397516825, rs886039607
View all (5 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome N/A N/A GenCC
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Costello Syndrome Costello syndrome N/A N/A GenCC
Associations from Text Mining Disease 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