Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MAP2K1 (mitogen-activated protein kinase kinase 1)

Identity

Alias_namesPRKMK1
Alias_symbol (synonym)MEK1
MAPKK1
Other aliasCFC3
MEL
MKK1
HGNC (Hugo) MAP2K1
LocusID (NCBI) 5604
Atlas_Id 41270
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 66386912 and ends at 66491544 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Langerhans cell histiocytosis

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Skin: Melanoma
t(7;15)(q22;q22) MAP2K1/CUX1

External links

Nomenclature
HGNC (Hugo)MAP2K1   6840
LRG (Locus Reference Genomic)LRG_725
Cards
Entrez_Gene (NCBI)MAP2K1  5604  mitogen-activated protein kinase kinase 1
AliasesCFC3; MAPKK1; MEK1; MEL; 
MKK1; PRKMK1
GeneCards (Weizmann)MAP2K1
Ensembl hg19 (Hinxton)ENSG00000169032 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169032 [Gene_View]  ENSG00000169032 [Sequence]  chr15:66386912-66491544 [Contig_View]  MAP2K1 [Vega]
ICGC DataPortalENSG00000169032
TCGA cBioPortalMAP2K1
AceView (NCBI)MAP2K1
Genatlas (Paris)MAP2K1
WikiGenes5604
SOURCE (Princeton)MAP2K1
Genetics Home Reference (NIH)MAP2K1
Genomic and cartography
GoldenPath hg38 (UCSC)MAP2K1  -     chr15:66386912-66491544 +  15q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAP2K1  -     15q22.31   [Description]    (hg19-Feb_2009)
GoldenPathMAP2K1 - 15q22.31 [CytoView hg19]  MAP2K1 - 15q22.31 [CytoView hg38]
Genome Data Viewer NCBIMAP2K1 [Mapview hg19]  
OMIM155950   163950   176872   615279   
Gene and transcription
Genbank (Entrez)AK022276 AK291500 AK294322 AK312356 BC137459
RefSeq transcript (Entrez)NM_002755
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAP2K1
Alternative Splicing GalleryENSG00000169032
Gene ExpressionMAP2K1 [ NCBI-GEO ]   MAP2K1 [ EBI - ARRAY_EXPRESS ]   MAP2K1 [ SEEK ]   MAP2K1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAP2K1 [ Firebrowse - Broad ]
GenevisibleExpression of MAP2K1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5604
GTEX Portal (Tissue expression)MAP2K1
Human Protein AtlasENSG00000169032-MAP2K1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02750   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02750  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02750
Splice isoforms : SwissVarQ02750
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 ]   [ MEROPS ]
PhosPhoSitePlusQ02750
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)MAP2K1
DMDM Disease mutations5604
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
PDB Europe1S9J    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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
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    5EYM    5HZE    5YT3    6NYB    6PP9    6Q0J    6Q0T    6U2G   
SuperfamilyQ02750
Human Protein Atlas [tissue]ENSG00000169032-MAP2K1 [tissue]
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  activation of MAPK activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  MAP-kinase scaffold activity  protein binding  ATP binding  nucleus  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  cytosol  plasma membrane  focal adhesion  protein phosphorylation  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-threonine phosphorylation  peptidyl-tyrosine phosphorylation  cerebellar cortex formation  neuron differentiation  keratinocyte differentiation  thyroid gland development  regulation of stress-activated MAPK cascade  protein serine/threonine kinase activator activity  positive regulation of transcription, DNA-templated  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  ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of protein serine/threonine kinase activity  regulation of Golgi inheritance  cellular senescence  scaffold protein binding  positive regulation of production of miRNAs involved in gene silencing by miRNA  regulation of early endosome to late endosome transport  
Ontology : EGO-EBIMAPK cascade  activation of MAPK activity  activation of MAPK activity  activation of MAPK activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  MAP-kinase scaffold activity  protein binding  ATP binding  nucleus  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  cytosol  plasma membrane  focal adhesion  protein phosphorylation  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-threonine phosphorylation  peptidyl-tyrosine phosphorylation  cerebellar cortex formation  neuron differentiation  keratinocyte differentiation  thyroid gland development  regulation of stress-activated MAPK cascade  protein serine/threonine kinase activator activity  positive regulation of transcription, DNA-templated  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  ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of protein serine/threonine kinase activity  regulation of Golgi inheritance  cellular senescence  scaffold protein binding  positive regulation of production of miRNAs involved in gene silencing by miRNA  regulation of early endosome to late endosome transport  
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
HOGENOMQ02750
Homologs : HomoloGeneMAP2K1
Homology/Alignments : Family Browser (UCSC)MAP2K1
Gene fusions - Rearrangements
Fusion : MitelmanMAP2K1/CUX1 [15q22.31/7q22.1]  
Fusion PortalMAP2K1 15q22.31 CUX1 7q22.1 KIRC
Fusion : QuiverMAP2K1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAP2K1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAP2K1
dbVarMAP2K1
ClinVarMAP2K1
1000_GenomesMAP2K1 
Exome Variant ServerMAP2K1
GNOMAD BrowserENSG00000169032
Varsome BrowserMAP2K1
Genetic variants : HAPMAP5604
Genomic Variants (DGV)MAP2K1 [DGVbeta]
DECIPHERMAP2K1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAP2K1 
Mutations
ICGC Data PortalMAP2K1 
TCGA Data PortalMAP2K1 
Broad Tumor PortalMAP2K1
OASIS PortalMAP2K1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAP2K1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMAP2K1
Mutations and Diseases : HGMDMAP2K1
intOGen PortalMAP2K1
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
BioMutaselect 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
Cancer3DMAP2K1 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM155950    163950    176872    615279   
Orphanet1559   
DisGeNETMAP2K1
MedgenMAP2K1
Genetic Testing Registry MAP2K1
NextProtQ02750 [Medical]
TSGene5604
GENETestsMAP2K1
Open Targets GeneticsENSG00000169032  [validation]
snp3D : Map Gene to Disease5604
BioCentury BCIQMAP2K1
ClinGenMAP2K1 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD5604
Pharm GKB GenePA30584
Pharm GKB PathwaysPA162356267   PA165959584   PA165980050   PA2032   
Clinical trialMAP2K1
Miscellaneous
canSAR (ICR)MAP2K1 (select the gene name)
HarmonizomeMAP2K1
DataMed IndexMAP2K1
Probes
Litterature
PubMed434 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAP2K1
EVEXMAP2K1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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