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Gene id 5894
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol RAF1   Gene   UCSC   Ensembl
Aliases CMD1NN, CRAF, NS5, Raf-1, c-Raf
Gene name Raf-1 proto-oncogene, serine/threonine kinase
Alternate names RAF proto-oncogene serine/threonine-protein kinase, C-Raf proto-oncogene, serine/threonine kinase, Oncogene RAF1, proto-oncogene c-RAF, raf proto-oncogene serine/threonine protein kinase, v-raf-1 murine leukemia viral oncogene homolog 1, v-raf-1 murine le,
Gene location 3p25.2 (12664200: 12583600)     Exons: 22     NC_000003.12
Gene summary(Entrez) 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
OMIM 164760

SNPs
rs7811653

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

Protein Summary
Protein general information P04049  

Name: RAF proto oncogene serine/threonine protein kinase (EC 2.7.11.1) (Proto oncogene c RAF) (cRaf) (Raf 1)

Length: 648  Mass: 73,052

Sequence MEHIQGAWKTISNGFGFKDAVFDGSSCISPTIVQQFGYQRRASDDGKLTDPSKTSNTIRVFLPNKQRTVVNVRNG
MSLHDCLMKALKVRGLQPECCAVFRLLHEHKGKKARLDWNTDAASLIGEELQVDFLDHVPLTTHNFARKTFLKLA
FCDICQKFLLNGFRCQTCGYKFHEHCSTKVPTMCVDWSNIRQLLLFPNSTIGDSGVPALPSLTMRRMRESVSRMP
VSSQHRYSTPHAFTFNTSSPSSEGSLSQRQRSTSTPNVHMVSTTLPVDSRMIEDAIRSHSESASPSALSSSPNNL
SPTGWSQPKTPVPAQRERAPVSGTQEKNKIRPRGQRDSSYYWEIEASEVMLSTRIGSGSFGTVYKGKWHGDVAVK
ILKVVDPTPEQFQAFRNEVAVLRKTRHVNILLFMGYMTKDNLAIVTQWCEGSSLYKHLHVQETKFQMFQLIDIAR
QTAQGMDYLHAKNIIHRDMKSNNIFLHEGLTVKIGDFGLATVKSRWSGSQQVEQPTGSVLWMAPEVIRMQDNNPF
SFQSDVYSYGIVLYELMTGELPYSHINNRDQIIFMVGRGYASPDLSKLYKNCPKAMKRLVADCVKKVKEERPLFP
QILSSIELLQHSLPKINRSASEPSLHRAAHTEDINACTLTTSPRLPVF
Structural information
Protein Domains
 RBD. (56-131)
Protein (349-609)
Interpro:  IPR020454  IPR011009  IPR002219  IPR000719  IPR017441  
IPR003116  IPR001245  IPR008271  IPR029071  
Prosite:   PS00107 PS50011 PS00108 PS50898 PS00479 PS50081
CDD:   cd00029

PDB:  		 1C1Y 1FAQ 1FAR 1GUA 1RFA 3CU8 3IQJ 3IQU 3IQV 3KUC 3KUD 3NKX 3O8I 3OMV 4FJ3 4G0N 4G3X 4IEA 4IHL
PDBsum:   1C1Y 1FAQ 1FAR 1GUA 1RFA 3CU8 3IQJ 3IQU 3IQV 3KUC 3KUD 3NKX 3O8I 3OMV 4FJ3 4G0N 4G3X 4IEA 4IHL

DIP:  
1048
MINT:  
STRING:   ENSP00000251849
Other Databases GeneCards:  RAF1  Malacards:  RAF1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
 TAS biological process
GO:0000186 activation of MAPKK activ
ity
 IDA biological process
GO:0001666 response to hypoxia
 IEA biological process
GO:0002223 stimulatory C-type lectin
receptor signaling pathw
ay
 TAS biological process
GO:0004672 protein kinase activity
 TAS molecular function
GO:0004672 protein kinase activity
 TAS molecular function
GO:0004674 protein serine/threonine
kinase activity
 IDA molecular function
GO:0004709 MAP kinase kinase kinase
activity
 IEA 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: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: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: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
 ISS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005741 mitochondrial outer membr
ane
 TAS cellular component
GO:0005794 Golgi apparatus
 IPI cellular component
GO:0005829 cytosol
 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:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0006468 protein phosphorylation
 TAS biological process
GO:0006915 apoptotic process
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007190 activation of adenylate c
yclase activity
 NAS biological process
GO:0007507 heart development
 IEA biological process
GO:0008283 cell proliferation
 TAS biological process
GO:0008285 negative regulation of ce
ll proliferation
 IDA biological process
GO:0016301 kinase activity
 TAS molecular function
GO:0030154 cell differentiation
 IEA biological process
GO:0030168 platelet activation
 TAS biological process
GO:0030878 thyroid gland development
 IEA biological process
GO:0031143 pseudopodium
 IEA cellular component
GO:0031333 negative regulation of pr
otein complex assembly
 IDA 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:0034220 ion transmembrane transpo
rt
 TAS biological process
GO:0035019 somatic stem cell populat
ion maintenance
 IEA biological process
GO:0035023 regulation of Rho protein
signal transduction
 TAS biological process
GO:0035773 insulin secretion involve
d in cellular response to
glucose stimulus
 IEA biological process
GO:0035994 response to muscle stretc
h
 IEA biological process
GO:0042060 wound healing
 TAS 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:0042981 regulation of apoptotic p
rocess
 TAS biological process
GO:0043066 negative regulation of ap
optotic process
 IDA biological process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 TAS biological process
GO:0045104 intermediate filament cyt
oskeleton organization
 IEA biological process
GO:0045595 regulation of cell differ
entiation
 TAS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular function
GO:0048011 neurotrophin TRK receptor
signaling pathway
 IEA biological process
GO:0048538 thymus development
 IEA biological process
GO:0060324 face development
 IEA biological process
GO:0071550 death-inducing signaling
complex assembly
 IEA biological process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
 IEA biological process
GO:2000145 regulation of cell motili
ty
 TAS biological process
GO:0031267 small GTPase binding
 IPI molecular function
GO:0005886 plasma membrane
 IDA cellular component
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
 IDA biological process
GO:0001666 response to hypoxia
 IEA biological process
GO:0001678 cellular glucose homeosta
sis
 IEA biological process
GO:0001934 positive regulation of pr
otein phosphorylation
 IEA biological process
GO:0002223 stimulatory C-type lectin
receptor signaling pathw
ay
 TAS biological process
GO:0004672 protein kinase activity
 IEA molecular function
GO:0004672 protein kinase activity
 TAS 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
 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: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: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: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: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:0005524 ATP binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 ISS 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:0005739 mitochondrion
 IEA cellular component
GO:0005741 mitochondrial outer membr
ane
 TAS cellular component
GO:0005794 Golgi apparatus
 IPI cellular component
GO:0005829 cytosol
 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:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS 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
 TAS biological process
GO:0006915 apoptotic process
 TAS biological process
GO:0007165 signal transduction
 IEA biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007190 activation of adenylate c
yclase activity
 NAS biological process
GO:0007507 heart development
 IEA biological process
GO:0008283 cell proliferation
 TAS biological process
GO:0008285 negative regulation of ce
ll proliferation
 IDA biological process
GO:0016020 membrane
 IEA cellular component
GO:0016301 kinase activity
 IEA molecular function
GO:0016301 kinase activity
 TAS molecular function
GO:0016310 phosphorylation
 IEA biological process
GO:0016740 transferase activity
 IEA molecular function
GO:0030154 cell differentiation
 IEA biological process
GO:0030168 platelet activation
 TAS biological process
GO:0030878 thyroid gland development
 IEA biological process
GO:0031143 pseudopodium
 IEA cellular component
GO:0031333 negative regulation of pr
otein complex assembly
 IDA 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:0034220 ion transmembrane transpo
rt
 TAS biological process
GO:0035019 somatic stem cell populat
ion maintenance
 IEA biological process
GO:0035023 regulation of Rho protein
signal transduction
 TAS biological process
GO:0035556 intracellular signal tran
sduction
 IEA biological process
GO:0035773 insulin secretion involve
d in cellular response to
glucose stimulus
 IEA biological process
GO:0035994 response to muscle stretc
h
 IEA biological process
GO:0042060 wound healing
 TAS 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:0042981 regulation of apoptotic p
rocess
 TAS biological process
GO:0043066 negative regulation of ap
optotic process
 IDA biological process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 TAS biological process
GO:0045104 intermediate filament cyt
oskeleton organization
 IEA biological process
GO:0045595 regulation of cell differ
entiation
 TAS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular function
GO:0048011 neurotrophin TRK receptor
signaling pathway
 IEA biological process
GO:0048538 thymus development
 IEA biological process
GO:0060324 face development
 IEA biological process
GO:0071550 death-inducing signaling
complex assembly
 IEA biological process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
 IEA biological process
GO:2000145 regulation of cell motili
ty
 TAS biological process
GO:0031267 small GTPase binding
 IPI molecular function
GO:0005886 plasma membrane
 IDA cellular component
GO:0000165 MAPK cascade
 TAS biological process
GO:0000186 activation of MAPKK activ
ity
 IDA biological process
GO:0002223 stimulatory C-type lectin
receptor signaling pathw
ay
 TAS biological process
GO:0004672 protein kinase activity
 TAS molecular function
GO:0004672 protein kinase activity
 TAS molecular function
GO:0004674 protein serine/threonine
kinase activity
 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: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: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: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
 ISS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005741 mitochondrial outer membr
ane
 TAS cellular component
GO:0005794 Golgi apparatus
 IPI cellular component
GO:0005829 cytosol
 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:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0006468 protein phosphorylation
 TAS biological process
GO:0006915 apoptotic process
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007190 activation of adenylate c
yclase activity
 NAS biological process
GO:0008283 cell proliferation
 TAS biological process
GO:0008285 negative regulation of ce
ll proliferation
 IDA biological process
GO:0016301 kinase activity
 TAS molecular function
GO:0030168 platelet activation
 TAS biological process
GO:0031333 negative regulation of pr
otein complex assembly
 IDA biological process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
 IDA biological process
GO:0034220 ion transmembrane transpo
rt
 TAS biological process
GO:0035023 regulation of Rho protein
signal transduction
 TAS biological process
GO:0042060 wound healing
 TAS 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:0042981 regulation of apoptotic p
rocess
 TAS biological process
GO:0043066 negative regulation of ap
optotic process
 IDA biological process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 TAS biological process
GO:0045595 regulation of cell differ
entiation
 TAS biological process
GO:2000145 regulation of cell motili
ty
 TAS biological process
GO:0031267 small GTPase binding
 IPI molecular function
GO:0005886 plasma membrane
 IDA cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa00030Pentose phosphate pathway
hsa00052Galactose metabolism
hsa00500Starch and sucrose metabolism
hsa00620Pyruvate metabolism
hsa00640Propanoate metabolism
hsa00650Butanoate metabolism
hsa00562Inositol phosphate metabolism
hsa00190Oxidative phosphorylation
hsa00071Fatty acid degradation
hsa00140Steroid hormone biosynthesis
hsa00140Steroid hormone biosynthesis
hsa00140Steroid hormone biosynthesis
hsa00140Steroid hormone biosynthesis
hsa00564Glycerophospholipid metabolism
hsa00230Purine metabolism
hsa00260Glycine, serine and threonine metabolism
hsa00270Cysteine and methionine metabolism
hsa00310Lysine degradation
hsa00330Arginine and proline metabolism
hsa00330Arginine and proline metabolism
hsa00350Tyrosine metabolism
hsa00480Glutathione metabolism
hsa00512Mucin type O-glycan biosynthesis
hsa00511Other glycan degradation
hsa00830Retinol metabolism
hsa00130Ubiquinone and other terpenoid-quinone biosynthesis
hsa00232Caffeine metabolism
hsa00980Metabolism of xenobiotics by cytochrome P450
hsa00982Drug metabolism - cytochrome P450
hsa00983Drug metabolism - other enzymes
hsa00983Drug metabolism - other enzymes
hsa03040Spliceosome
hsa03040Spliceosome
hsa03040Spliceosome
hsa03040Spliceosome
hsa03013RNA transport
hsa03013RNA transport
hsa03013RNA transport
hsa03015mRNA surveillance pathway
hsa03015mRNA surveillance pathway
hsa04141Protein processing in endoplasmic reticulum
hsa04141Protein processing in endoplasmic reticulum
hsa04141Protein processing in endoplasmic reticulum
hsa04141Protein processing in endoplasmic reticulum
hsa04141Protein processing in endoplasmic reticulum
hsa04120Ubiquitin mediated proteolysis
hsa03030DNA replication
hsa03410Base excision repair
hsa03440Homologous recombination
hsa03440Homologous recombination
hsa03450Non-homologous end-joining
hsa03460Fanconi anemia pathway
hsa02010ABC transporters
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04014Ras signaling pathway
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04010MAPK signaling pathway
hsa04310Wnt signaling pathway
hsa04350TGF-beta signaling pathway
hsa04390Hippo signaling pathway
hsa04390Hippo signaling pathway
hsa04390Hippo signaling pathway
hsa04371Apelin signaling pathway
hsa04371Apelin signaling pathway
hsa04630JAK-STAT signaling pathway
hsa04630JAK-STAT signaling pathway
hsa04064NF-kappa B signaling pathway
hsa04068FoxO signaling pathway
hsa04072Phospholipase D signaling pathway
hsa04071Sphingolipid signaling pathway
hsa04024cAMP signaling pathway
hsa04022cGMP-PKG signaling pathway
hsa04151PI3K-Akt signaling pathway
hsa04150mTOR signaling pathway
hsa04140Autophagy - animal
hsa04210Apoptosis
hsa04218Cellular senescence
hsa04510Focal adhesion
hsa04540Gap junction
hsa04550Signaling pathways regulating pluripotency of stem cells
hsa04810Regulation of actin cytoskeleton
hsa04625C-type lectin receptor signaling pathway
hsa04650Natural killer cell mediated cytotoxicity
hsa04660T cell receptor signaling pathway
hsa04662B cell receptor signaling pathway
hsa04664Fc epsilon RI signaling pathway
hsa04666Fc gamma R-mediated phagocytosis
hsa04062Chemokine signaling pathway
hsa04910Insulin signaling pathway
hsa04929GnRH secretion
hsa04912GnRH signaling pathway
hsa04915Estrogen signaling pathway
hsa04914Progesterone-mediated oocyte maturation
hsa04917Prolactin signaling pathway
hsa04921Oxytocin signaling pathway
hsa04926Relaxin signaling pathway
hsa04919Thyroid hormone signaling pathway
hsa04928Parathyroid hormone synthesis, secretion and action
hsa04916Melanogenesis
hsa04270Vascular smooth muscle contraction
hsa04726Serotonergic synapse
hsa04720Long-term potentiation
hsa04730Long-term depression
hsa04722Neurotrophin signaling pathway
hsa04360Axon guidance
hsa05200Pathways in cancer
hsa05206MicroRNAs in cancer
hsa05205Proteoglycans in cancer
hsa05230Central carbon metabolism in cancer
hsa05231Choline metabolism in cancer
hsa05235PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05210Colorectal cancer
hsa05212Pancreatic cancer
hsa05225Hepatocellular carcinoma
hsa05226Gastric cancer
hsa05214Glioma
hsa05221Acute myeloid leukemia
hsa05220Chronic myeloid leukemia
hsa05218Melanoma
hsa05211Renal cell carcinoma
hsa05219Bladder cancer
hsa05215Prostate cancer
hsa05213Endometrial cancer
hsa05224Breast cancer
hsa05223Non-small cell lung cancer
hsa05034Alcoholism
hsa05152Tuberculosis
hsa05170Human immunodeficiency virus 1 infection
hsa05164Influenza A
hsa05161Hepatitis B
hsa05160Hepatitis C
hsa05163Human cytomegalovirus infection
hsa05167Kaposi sarcoma-associated herpesvirus infection
hsa05165Human papillomavirus infection
hsa01521EGFR tyrosine kinase inhibitor resistance
hsa01522Endocrine resistance

Diseases

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Associated diseases References
Cancer (glioma) GAD: 20302979
Cancer (Medullary) GAD: 17909067
Cancer (thyroid) GAD: 19730683
Cardiomegaly GAD: 21348951
Cardiovascular disease GAD: 21348951
Cardiomyopathy OMIM: 164760
Arrhythmias GAD: 18241070
Noonan syndrome OMIM: 164760
LEOPARD syndrome OMIM: 164760
Cognitive function GAD: 19133693
Unilateral or bilateral cryptorchidism MIK: 20389169
Articulation disorders GAD: 20543023
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Testicular torsion MIK: 30904638
Unilateral or bilateral cryptorchidism MIK: 20389169

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20389169 Unilateral
or bilate
ral crypto
rchidism
22 (16 cryptorc
hid, 6 descende
d testes)
 Male infertility FGFR1
SOS1
 RAF1
 Show abstract
30904638 Testicular
torsion
 exon 7 of chromosome 3: 12645786 G > C Caucasi
an
 2 testicular to
rsion
 Male infertility NGS
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract