Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MAP2K1 (mitogen-activated protein kinase kinase 1)

Identity

Other namesCFC3
MAPKK1
MEK1
MKK1
PRKMK1
HGNC (Hugo) MAP2K1
LocusID (NCBI) 5604
Atlas_Id 41270
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 66679211 and ends at 66783882 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MAP2K1 (15q22.31) / CUX1 (7q22.1)MAP2K1 (15q22.31) / PDK2 (17q21.33)MAP2K1 (15q22.31) / SLC48A1 (12q13.11)
RPS6 (9p22.1) / MAP2K1 (15q22.31)MAP2K1 15q22.31 / CUX1 7q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Skin: Melanoma

External links

Nomenclature
HGNC (Hugo)MAP2K1   6840
Cards
Entrez_Gene (NCBI)MAP2K1  5604  mitogen-activated protein kinase kinase 1
AliasesCFC3; MAPKK1; MEK1; MKK1; 
PRKMK1
GeneCards (Weizmann)MAP2K1
Ensembl hg19 (Hinxton)ENSG00000169032 [Gene_View]  chr15:66679211-66783882 [Contig_View]  MAP2K1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169032 [Gene_View]  chr15:66679211-66783882 [Contig_View]  MAP2K1 [Vega]
ICGC DataPortalENSG00000169032
TCGA cBioPortalMAP2K1
AceView (NCBI)MAP2K1
Genatlas (Paris)MAP2K1
WikiGenes5604
SOURCE (Princeton)MAP2K1
Genomic and cartography
GoldenPath hg19 (UCSC)MAP2K1  -     chr15:66679211-66783882 +  15q22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MAP2K1  -     15q22.31   [Description]    (hg38-Dec_2013)
EnsemblMAP2K1 - 15q22.31 [CytoView hg19]  MAP2K1 - 15q22.31 [CytoView hg38]
Mapping of homologs : NCBIMAP2K1 [Mapview hg19]  MAP2K1 [Mapview hg38]
OMIM163950   176872   615279   
Gene and transcription
Genbank (Entrez)AK291500 AK294322 AK312356 BC137459 BC139729
RefSeq transcript (Entrez)NM_002755
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008305 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)MAP2K1
Cluster EST : UnigeneHs.145442 [ NCBI ]
CGAP (NCI)Hs.145442
Alternative Splicing GalleryENSG00000169032
Gene ExpressionMAP2K1 [ NCBI-GEO ]   MAP2K1 [ EBI - ARRAY_EXPRESS ]   MAP2K1 [ SEEK ]   MAP2K1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAP2K1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5604
GTEX Portal (Tissue expression)MAP2K1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02750 (Uniprot)
NextProtQ02750  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02750
Splice isoforms : SwissVarQ02750 (Swissvar)
Catalytic activity : Enzyme2.7.12.2 [ Enzyme-Expasy ]   2.7.12.22.7.12.2 [ IntEnz-EBI ]   2.7.12.2 [ BRENDA ]   2.7.12.2 [ KEGG ]   
PhosPhoSitePlusQ02750
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
DMDM Disease mutations5604
Blocks (Seattle)MAP2K1
PDB (SRS)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
PDB (PDBSum)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
PDB (IMB)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
PDB (RSDB)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
Structural Biology KnowledgeBase1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
SCOP (Structural Classification of Proteins)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
CATH (Classification of proteins structures)1S9J    2P55    3DV3    3DY7    3E8N    3EQB    3EQC    3EQD    3EQF    3EQG    3EQH    3EQI    3MBL    3ORN    3OS3    3PP1    3SLS    3V01    3V04    3VVH    3W8Q    3WIG    3ZLS    3ZLW    3ZLX    3ZLY    3ZM4    4AN2    4AN3    4AN9    4ANB    4ARK    4LMN    4MNE    4U7Z    4U80    4U81    5BX0   
SuperfamilyQ02750
Human Protein AtlasENSG00000169032
Peptide AtlasQ02750
HPRD01469
IPIIPI00219604   IPI00797850   
Protein Interaction databases
DIP (DOE-UCLA)Q02750
IntAct (EBI)Q02750
FunCoupENSG00000169032
BioGRIDMAP2K1
STRING (EMBL)MAP2K1
ZODIACMAP2K1
Ontologies - Pathways
QuickGOQ02750
Ontology : AmiGOMAPK cascade  activation of MAPK activity  activation of MAPK activity  protein kinase activity  protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  receptor signaling protein tyrosine phosphatase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  plasma membrane  focal adhesion  movement of cell or subcellular component  chemotaxis  cell cycle arrest  signal transduction  heart development  protein C-terminus binding  negative regulation of cell proliferation  positive regulation of gene expression  negative regulation of gene expression  peptidyl-tyrosine phosphorylation  protein kinase binding  cerebellar cortex formation  neuron differentiation  keratinocyte differentiation  thyroid gland development  regulation of stress-activated MAPK cascade  proteolysis in other organism  protein serine/threonine kinase activator activity  protein N-terminus binding  thymus development  regulation of axon regeneration  cell motility  positive regulation of axonogenesis  Bergmann glial cell differentiation  face development  trachea formation  epithelial cell proliferation involved in lung morphogenesis  placenta blood vessel development  labyrinthine layer development  extracellular exosome  ERK1 and ERK2 cascade  positive regulation of protein serine/threonine kinase activity  regulation of Golgi inheritance  cellular senescence  mitophagy in response to mitochondrial depolarization  regulation of early endosome to late endosome transport  
Ontology : EGO-EBIMAPK cascade  activation of MAPK activity  activation of MAPK activity  protein kinase activity  protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  receptor signaling protein tyrosine phosphatase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  plasma membrane  focal adhesion  movement of cell or subcellular component  chemotaxis  cell cycle arrest  signal transduction  heart development  protein C-terminus binding  negative regulation of cell proliferation  positive regulation of gene expression  negative regulation of gene expression  peptidyl-tyrosine phosphorylation  protein kinase binding  cerebellar cortex formation  neuron differentiation  keratinocyte differentiation  thyroid gland development  regulation of stress-activated MAPK cascade  proteolysis in other organism  protein serine/threonine kinase activator activity  protein N-terminus binding  thymus development  regulation of axon regeneration  cell motility  positive regulation of axonogenesis  Bergmann glial cell differentiation  face development  trachea formation  epithelial cell proliferation involved in lung morphogenesis  placenta blood vessel development  labyrinthine layer development  extracellular exosome  ERK1 and ERK2 cascade  positive regulation of protein serine/threonine kinase activity  regulation of Golgi inheritance  cellular senescence  mitophagy in response to mitochondrial depolarization  regulation of early endosome to late endosome transport  
Pathways : BIOCARTAFc Epsilon Receptor I Signaling in Mast Cells [Genes]    IL 2 signaling pathway [Genes]    Role of MAL in Rho-Mediated Activation of SRF [Genes]    Roles of -arrestin-dependent Recruitment of Src Kinases in GPCR Signaling [Genes]    BCR Signaling Pathway [Genes]    Bioactive Peptide Induced Signaling Pathway [Genes]    Role of ERBB2 in Signal Transduction and Oncology [Genes]    IGF-1 Signaling Pathway [Genes]    Integrin Signaling Pathway [Genes]    Ras-Independent pathway in NK cell-mediated cytotoxicity [Genes]    Ras Signaling Pathway [Genes]    Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling [Genes]    Cadmium induces DNA synthesis and proliferation in macrophages [Genes]    Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway [Genes]    Map Kinase Inactivation of SMRT Corepressor [Genes]    fMLP induced chemokine gene expression in HMC-1 cells [Genes]    Inhibition of Cellular Proliferation by Gleevec [Genes]    Signaling Pathway from G-Protein Families [Genes]    Nerve growth factor pathway (NGF) [Genes]    Links between Pyk2 and Map Kinases [Genes]    Sprouty regulation of tyrosine kinase signals [Genes]    T Cell Receptor Signaling Pathway [Genes]    CCR3 signaling in Eosinophils [Genes]    TPO Signaling Pathway [Genes]    Anthrax Toxin Mechanism of Action [Genes]    Role of -arrestins in the activation and targeting of MAP kinases [Genes]    Growth Hormone Signaling Pathway [Genes]    IL 3 signaling pathway [Genes]    Insulin Signaling Pathway [Genes]    Ceramide Signaling Pathway [Genes]    EGF Signaling Pathway [Genes]    IL 6 signaling pathway [Genes]    Signaling of Hepatocyte Growth Factor Receptor [Genes]    Keratinocyte Differentiation [Genes]    PDGF Signaling Pathway [Genes]    Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia [Genes]    Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation [Genes]    CXCR4 Signaling Pathway [Genes]    EPO Signaling Pathway [Genes]    Erk1/Erk2 Mapk Signaling pathway [Genes]    Human Cytomegalovirus and Map Kinase Pathways [Genes]    MAPKinase Signaling Pathway [Genes]    NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    Aspirin Blocks Signaling Pathway Involved in Platelet Activation [Genes]    TGF beta signaling pathway [Genes]   
Pathways : KEGGMAPK signaling pathway    ErbB signaling pathway    Ras signaling pathway    Rap1 signaling pathway    Chemokine signaling pathway    HIF-1 signaling pathway    FoxO signaling pathway    Oocyte meiosis    PI3K-Akt signaling pathway    Vascular smooth muscle contraction    Dorso-ventral axis formation    VEGF signaling pathway    Osteoclast differentiation    Focal adhesion    Gap junction    Toll-like receptor signaling pathway    Natural killer cell mediated cytotoxicity    T cell receptor signaling pathway    B cell receptor signaling pathway    Fc epsilon RI signaling pathway    Fc gamma R-mediated phagocytosis    TNF signaling pathway    Long-term potentiation    Neurotrophin signaling pathway    Cholinergic synapse    Serotonergic synapse    Long-term depression    Regulation of actin cytoskeleton    Insulin signaling pathway    GnRH signaling pathway    Progesterone-mediated oocyte maturation    Estrogen signaling pathway    Melanogenesis    Prolactin signaling pathway    Thyroid hormone signaling pathway    Prion diseases    Alcoholism    Hepatitis B    Influenza A    Pathways in cancer    Proteoglycans in cancer    MicroRNAs in cancer    Colorectal cancer    Renal cell carcinoma    Pancreatic cancer    Endometrial cancer    Glioma    Prostate cancer    Thyroid cancer    Melanoma    Bladder cancer    Chronic myeloid leukemia    Acute myeloid leukemia    Non-small cell lung cancer   
NDEx NetworkMAP2K1
Atlas of Cancer Signalling NetworkMAP2K1
Wikipedia pathwaysMAP2K1
Orthology - Evolution
OrthoDB5604
GeneTree (enSembl)ENSG00000169032
Phylogenetic Trees/Animal Genes : TreeFamMAP2K1
Homologs : HomoloGeneMAP2K1
Homology/Alignments : Family Browser (UCSC)MAP2K1
Gene fusions - Rearrangements
Fusion: TCGAMAP2K1 15q22.31 CUX1 7q22.1 KIRC
Polymorphisms : SNP, variants
NCBI Variation ViewerMAP2K1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAP2K1
dbVarMAP2K1
ClinVarMAP2K1
1000_GenomesMAP2K1 
Exome Variant ServerMAP2K1
ExAC (Exome Aggregation Consortium)MAP2K1 (select the gene name)
Genetic variants : HAPMAP5604
Genomic Variants (DGV)MAP2K1 [DGVbeta]
Mutations
ICGC Data PortalMAP2K1 
TCGA Data PortalMAP2K1 
Broad Tumor PortalMAP2K1
OASIS PortalMAP2K1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMAP2K1 
Somatic Mutations in Cancer : COSMICMAP2K1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch MAP2K1
DgiDB (Drug Gene Interaction Database)MAP2K1
DoCM (Curated mutations)MAP2K1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAP2K1 (select a term)
intoGenMAP2K1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:66679211-66783882  ENSG00000169032
CONAN: Copy Number AnalysisMAP2K1 
Mutations and Diseases : HGMDMAP2K1
OMIM163950    176872    615279   
MedgenMAP2K1
Genetic Testing Registry MAP2K1
NextProtQ02750 [Medical]
TSGene5604
GENETestsMAP2K1
Huge Navigator MAP2K1 [HugePedia]
snp3D : Map Gene to Disease5604
BioCentury BCIQMAP2K1
ClinGenMAP2K1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5604
Chemical/Pharm GKB GenePA30584
Clinical trialMAP2K1
Miscellaneous
canSAR (ICR)MAP2K1 (select the gene name)
Probes
Litterature
PubMed342 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAP2K1
EVEXMAP2K1
GoPubMedMAP2K1
iHOPMAP2K1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:59:29 CEST 2016

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