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
MKK1
HGNC (Hugo) MAP2K1
LocusID (NCBI) 5604
Atlas_Id 41270
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 66386873 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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Skin: Melanoma


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; MKK1; 
PRKMK1
GeneCards (Weizmann)MAP2K1
Ensembl hg19 (Hinxton)ENSG00000169032 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169032 [Gene_View]  chr15:66386873-66491544 [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  -     chr15:66386873-66491544 +  15q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAP2K1  -     15q22.31   [Description]    (hg19-Feb_2009)
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)AK022276 AK291500 AK294322 AK312356 BC137459
RefSeq transcript (Entrez)NM_002755
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAP2K1
Cluster EST : UnigeneHs.677223 [ NCBI ]
CGAP (NCI)Hs.677223
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]
GenevestigatorExpression 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 ]   
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_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
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    5EYM   
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   
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   
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   
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   
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   
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   
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  protein kinase activity  protein serine/threonine kinase activity  signal transducer, downstream of receptor, with serine/threonine kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine phosphatase activity  protein binding  ATP binding  nucleus  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  cytosol  plasma membrane  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  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  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  extracellular exosome  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  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  protein kinase activity  protein serine/threonine kinase activity  signal transducer, downstream of receptor, with serine/threonine kinase activity  MAP kinase kinase activity  protein serine/threonine/tyrosine kinase activity  protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine phosphatase activity  protein binding  ATP binding  nucleus  mitochondrion  early endosome  late endosome  endoplasmic reticulum  Golgi apparatus  microtubule organizing center  cytosol  cytosol  plasma membrane  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  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  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  extracellular exosome  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  positive regulation of production of miRNAs involved in gene silencing by miRNA  regulation of early endosome to late endosome transport  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
NDEx NetworkMAP2K1
Atlas of Cancer Signalling NetworkMAP2K1
Wikipedia pathwaysMAP2K1
Orthology - Evolution
OrthoDB5604
GeneTree (enSembl)ENSG00000169032
Phylogenetic Trees/Animal Genes : TreeFamMAP2K1
HOVERGENQ02750
HOGENOMQ02750
Homologs : HomoloGeneMAP2K1
Homology/Alignments : Family Browser (UCSC)MAP2K1
Gene fusions - Rearrangements
Fusion : MitelmanMAP2K1/CUX1 [15q22.31/7q22.1]  
Fusion: TCGA_MDACCMAP2K1 15q22.31 CUX1 7q22.1 KIRC
Tumor Fusion PortalMAP2K1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAP2K1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAP2K1
dbVarMAP2K1
ClinVarMAP2K1
1000_GenomesMAP2K1 
Exome Variant ServerMAP2K1
ExAC (Exome Aggregation Consortium)ENSG00000169032
GNOMAD BrowserENSG00000169032
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]
Cancer Gene: CensusMAP2K1 
Somatic Mutations in Cancer : COSMICMAP2K1  [overview]  [genome browser]  [tissue]  [distribution]  
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
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
Cancer3DMAP2K1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM163950    176872    615279   
Orphanet1559   
DisGeNETMAP2K1
MedgenMAP2K1
Genetic Testing Registry MAP2K1
NextProtQ02750 [Medical]
TSGene5604
GENETestsMAP2K1
Target ValidationMAP2K1
Huge Navigator MAP2K1 [HugePedia]
snp3D : Map Gene to Disease5604
BioCentury BCIQMAP2K1
ClinGenMAP2K1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5604
Chemical/Pharm GKB GenePA30584
Clinical trialMAP2K1
Miscellaneous
canSAR (ICR)MAP2K1 (select the gene name)
Probes
Litterature
PubMed365 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 : Tue Nov 21 14:21:30 CET 2017

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