Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 673
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol BRAF   Gene   UCSC   Ensembl
Aliases B-RAF1, B-raf, BRAF1, NS7, RAFB1
Gene name B-Raf proto-oncogene, serine/threonine kinase
Alternate names serine/threonine-protein kinase B-raf, 94 kDa B-raf protein, B-Raf proto-oncogene serine/threonine-protein kinase (p94), murine sarcoma viral (v-raf) oncogene homolog B1, proto-oncogene B-Raf, v-raf murine sarcoma viral oncogene homolog B, v-raf murine sarcoma ,
Gene location 7q34 (140924763: 140719330)     Exons: 21     NC_000007.14
Gene summary(Entrez) This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
OMIM 164757

Protein Summary

Protein general information P15056  

Name: Serine/threonine protein kinase B raf (EC 2.7.11.1) (Proto oncogene B Raf) (p94) (v Raf murine sarcoma viral oncogene homolog B1)

Length: 766  Mass: 84,437

Tissue specificity: Brain and testis.

Sequence MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPP
SIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPK
SPQKPIVRVFLPNKQRTVVPARCGVTVRDSLKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVE
VLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPI
PQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQRDRSSSAPNVHINTIE
PVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSSDDW
EIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQL
AIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV
KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLS
PDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARSLPKIHRSASEPSLNRAGFQTEDFSLYACAS
PKTPIQAGGYGAFPVH
Structural information
Protein Domains
RBD. (155-227)
Protein (457-717)
Interpro:  IPR020454 IPR011009 IPR002219 IPR000719 IPR017441 IPR003116 IPR001245 IPR008271 IPR029071
Prosite:   PS00107 PS50011 PS00108 PS50898 PS00479 PS50081

Pfam:  
PF00130 PF07714 PF02196
CDD:   cd00029

PDB:  
1UWH 1UWJ 2FB8 2L05 3C4C 3D4Q 3IDP 3II5 3NY5 3OG7 3PPJ 3PPK 3PRF 3PRI 3PSB 3PSD 3Q4C 3Q96 3SKC 3TV4 3TV6 4CQE 4DBN 4E26 4E4X 4EHE 4EHG 4FC0 4FK3 4G9C 4G9R 4H58 4JVG 4KSP 4KSQ 4MBJ 4MNE 4MNF 4PP7 4R5Y 4RZV 4RZW 4WO5 4XV1 4XV2 4XV3 4XV9 4YHT 5C9C 5CSW 5CSX
PDBsum:   1UWH 1UWJ 2FB8 2L05 3C4C 3D4Q 3IDP 3II5 3NY5 3OG7 3PPJ 3PPK 3PRF 3PRI 3PSB 3PSD 3Q4C 3Q96 3SKC 3TV4 3TV6 4CQE 4DBN 4E26 4E4X 4EHE 4EHG 4FC0 4FK3 4G9C 4G9R 4H58 4JVG 4KSP 4KSQ 4MBJ 4MNE 4MNF 4PP7 4R5Y 4RZV 4RZW 4WO5 4XV1 4XV2 4XV3 4XV9 4YHT 5C9C 5CSW 5CSX

DIP:  
1045
MINT:   1574728
STRING:   ENSP00000288602;
Other Databases GeneCards:  BRAF;  Malacards:  BRAF

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
TAS biological_process
GO:0000186 activation of MAPKK activ
ity
IEA biological_process
GO:0002318 myeloid progenitor cell d
ifferentiation
IEA biological_process
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004709 MAP kinase kinase kinase
activity
IEA molecular_function
GO:0005509 calcium ion binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IDA biological_process
GO:0008542 visual learning
IEA biological_process
GO:0009887 animal organ morphogenesi
s
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010764 negative regulation of fi
broblast migration
IEA biological_process
GO:0015758 glucose transport
IDA biological_process
GO:0030878 thyroid gland development
IEA biological_process
GO:0031434 mitogen-activated protein
kinase kinase binding
IEA molecular_function
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0035019 somatic stem cell populat
ion maintenance
IEA biological_process
GO:0035690 cellular response to drug
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043005 neuron projection
IEA cellular_component
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0043367 CD4-positive, alpha-beta
T cell differentiation
IEA biological_process
GO:0043368 positive T cell selection
IEA biological_process
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0044297 cell body
IEA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048538 thymus development
IEA biological_process
GO:0048680 positive regulation of ax
on regeneration
IEA biological_process
GO:0050772 positive regulation of ax
onogenesis
IEA biological_process
GO:0051291 protein heterooligomeriza
tion
IEA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0051591 response to cAMP
IEA biological_process
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0060323 head morphogenesis
IEA biological_process
GO:0060324 face development
IEA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0090150 establishment of protein
localization to membrane
IDA biological_process
GO:1900026 positive regulation of su
bstrate adhesion-dependen
t cell spreading
IEA biological_process
GO:2000301 negative regulation of sy
naptic vesicle exocytosis
IEA biological_process
GO:2000352 negative regulation of en
dothelial cell apoptotic
process
IEA biological_process
GO:0031267 small GTPase binding
IPI molecular_function
GO:0000165 MAPK cascade
IEA biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000186 activation of MAPKK activ
ity
IEA biological_process
GO:0002318 myeloid progenitor cell d
ifferentiation
IEA biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004672 protein kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004709 MAP kinase kinase kinase
activity
IEA molecular_function
GO:0005057 signal transducer activit
y, downstream of receptor
IEA molecular_function
GO:0005509 calcium ion binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006468 protein phosphorylation
TAS biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0008542 visual learning
IEA biological_process
GO:0009887 animal organ morphogenesi
s
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010764 negative regulation of fi
broblast migration
IEA biological_process
GO:0015758 glucose transport
IDA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0030154 cell differentiation
IEA biological_process
GO:0030878 thyroid gland development
IEA biological_process
GO:0031434 mitogen-activated protein
kinase kinase binding
IEA molecular_function
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0035019 somatic stem cell populat
ion maintenance
IEA biological_process
GO:0035556 intracellular signal tran
sduction
IEA biological_process
GO:0035690 cellular response to drug
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043005 neuron projection
IEA cellular_component
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0043367 CD4-positive, alpha-beta
T cell differentiation
IEA biological_process
GO:0043368 positive T cell selection
IEA biological_process
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0044297 cell body
IEA cellular_component
GO:0046632 alpha-beta T cell differe
ntiation
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048538 thymus development
IEA biological_process
GO:0048679 regulation of axon regene
ration
IEA biological_process
GO:0048680 positive regulation of ax
on regeneration
IEA biological_process
GO:0050772 positive regulation of ax
onogenesis
IEA biological_process
GO:0051291 protein heterooligomeriza
tion
IEA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0051591 response to cAMP
IEA biological_process
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0060323 head morphogenesis
IEA biological_process
GO:0060324 face development
IEA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0090150 establishment of protein
localization to membrane
IDA biological_process
GO:1900026 positive regulation of su
bstrate adhesion-dependen
t cell spreading
IEA biological_process
GO:2000301 negative regulation of sy
naptic vesicle exocytosis
IEA biological_process
GO:2000352 negative regulation of en
dothelial cell apoptotic
process
IEA biological_process
GO:0031267 small GTPase binding
IPI molecular_function
GO:0000165 MAPK cascade
TAS biological_process
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004672 protein kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0005509 calcium ion binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006468 protein phosphorylation
TAS biological_process
GO:0009887 animal organ morphogenesi
s
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0015758 glucose transport
IDA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0090150 establishment of protein
localization to membrane
IDA biological_process
GO:0031267 small GTPase binding
IPI molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa04015  Rap1 signaling pathway
hsa04510  Focal adhesion
hsa04062  Chemokine signaling pathway
hsa05224  Breast cancer
hsa04068  FoxO signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa05215  Prostate cancer
hsa01522  Endocrine resistance
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04650  Natural killer cell mediated cytotoxicity
hsa04024  cAMP signaling pathway
hsa05160  Hepatitis C
hsa04722  Neurotrophin signaling pathway
hsa05218  Melanoma
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05210  Colorectal cancer
hsa04012  ErbB signaling pathway
hsa04910  Insulin signaling pathway
hsa04150  mTOR signaling pathway
hsa05034  Alcoholism
hsa05219  Bladder cancer
hsa05211  Renal cell carcinoma
hsa04914  Progesterone-mediated oocyte maturation
hsa05214  Glioma
hsa05213  Endometrial cancer
hsa05223  Non-small cell lung cancer
hsa05221  Acute myeloid leukemia
hsa04726  Serotonergic synapse
hsa04270  Vascular smooth muscle contraction
hsa04730  Long-term depression
hsa05216  Thyroid cancer
hsa04320  Dorso-ventral axis formation
hsa04720  Long-term potentiation

Diseases

Associated diseases References
Adenocarcinoma OMIM: 164757
Cardiofaciocutaneous syndrome OMIM: 164757
Colorectal cancer OMIM: 164757
Endometriosis PMID: 16973828
LEOPARD syndrome OMIM: 164757
Malignant melanoma KEGG: H00038
Melanoma OMIM: 164757
Non-small cell lung cancer OMIM: 164757
Noonan syndrome OMIM: 164757, KEGG: H00523
Endometriosis INFBASE22276910
Thyroid cancer KEGG: H00032

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22276910 Endometrio
sis

100 (50 endomet
riosis, 50 cont
rols)
COX-2
BRAF
NRAS
CFL1
MAT2A
SEPT9
ATAD3A
CADM2
NAA15 and CCDC21
Show abstract