Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MAP4K5 (mitogen-activated protein kinase kinase kinase kinase 5)

Identity

Alias_symbol (synonym)KHS1
GCKR
KHS
Other aliasMAPKKKK5
HGNC (Hugo) MAP4K5
LocusID (NCBI) 11183
Atlas_Id 43348
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 50418493 and ends at 50532658 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MAP4K5 (14q21.3) / MAP4K5 (14q21.3)MAP4K5 (14q21.3) / NIN (14q22.1)MAP4K5 (14q21.3) / PRKDC (8q11.21)
MAP4K5 (14q21.3) / SAV1 (14q22.1)MAP4K5 14q21.3 / NIN 14q22.1MAP4K5 14q21.3 / SAV1 14q22.1

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

 


External links

Nomenclature
HGNC (Hugo)MAP4K5   6867
Cards
Entrez_Gene (NCBI)MAP4K5  11183  mitogen-activated protein kinase kinase kinase kinase 5
AliasesGCKR; KHS; KHS1; MAPKKKK5
GeneCards (Weizmann)MAP4K5
Ensembl hg19 (Hinxton)ENSG00000012983 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000012983 [Gene_View]  chr14:50418493-50532658 [Contig_View]  MAP4K5 [Vega]
ICGC DataPortalENSG00000012983
TCGA cBioPortalMAP4K5
AceView (NCBI)MAP4K5
Genatlas (Paris)MAP4K5
WikiGenes11183
SOURCE (Princeton)MAP4K5
Genetics Home Reference (NIH)MAP4K5
Genomic and cartography
GoldenPath hg38 (UCSC)MAP4K5  -     chr14:50418493-50532658 -  14q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAP4K5  -     14q22.1   [Description]    (hg19-Feb_2009)
EnsemblMAP4K5 - 14q22.1 [CytoView hg19]  MAP4K5 - 14q22.1 [CytoView hg38]
Mapping of homologs : NCBIMAP4K5 [Mapview hg19]  MAP4K5 [Mapview hg38]
OMIM604923   
Gene and transcription
Genbank (Entrez)AK124738 AK313612 BC013159 BC036013 CB959746
RefSeq transcript (Entrez)NM_006575 NM_198794
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAP4K5
Cluster EST : UnigeneHs.130491 [ NCBI ]
CGAP (NCI)Hs.130491
Alternative Splicing GalleryENSG00000012983
Gene ExpressionMAP4K5 [ NCBI-GEO ]   MAP4K5 [ EBI(- ARVAy_EXPRESS ]   MAP4K5 [ SEEK ]   MAP4K5 [ MEM ]
Gene Expression Viewer (FireBrowse)MAP4K5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11183
GTEX Portal (Tissue expression)MAP4K5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4K4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4K4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4K4
Splice isoforms : SwissVarQ9Y4K4
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ9Y4K4
Domaine pattern : Prosite (Expaxy)CNH (PS50219)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)CNH_dom  &nbwp; Kinase-like_dom    MAPKKKK    Prot_kinase_dom    Protein_kinase_ATP_BS   
Domain families : Pfam (Sanger)CNH (PF00780)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00780    pfam00069   
Domain families : Smart (EMBL)CNH (SM00036)  S_TKc (SM00220)  
Conserved Domain (NCBI)MAP4K5
DMDM Disease mutations11183
Blocks (Seattle)MAP4K5
SuperfamilyQ9Y4K4
Human Protein AtlasENSG00000012983
Peptide AtlasQ9Y4K4
HPRD05374
IPIIPI00294842   IPI01025372   IPI01025724   IPI01026046   IPI01026360   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4K4
IntAct (EBI)Q9Y4K4
FunCoupENSG00000012983
BioGRIDMAP4K5
STRING (EMBL)MAP4K5
ZODIACMAP4K5
Ontologies - Pathways
QuickGOQ9Y4K4
Ontology : AmiGOactivation of MAPKKK activity  protein kinase activity  protein serine/threonine kinase activity  signal transducer, downstream of receptor, with serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  protein phosphorylation  activation of JUN kinase activity  MAP kinase kinase kinase kinase activity  intracellular signal transduction  
Ontology : EGO-EBIactivation of MAPKKK activity  protein kinase activity  protein serine/threonine kinase activity  signal transducer, downstream of receptor, with serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  protein phosphorylation  activation of JUN kinase activity  MAP kinase kinase kinase kinase `ctiöit}  intracellular signal transduction  
Pathways : BIOCARTAMAPKinase Signaling Pathway [Genes]    The 4-1BB-dependent immune response [Genes]   
NDEx NetworkMAP4K5
Atlas of Cancer Signalling NetworkMAP4K5
Wikipedia pathwaysMAP4K5
Orthology - Evolution
OrthoDB11183
GeneTree (enSembl)ENSG00000012983
Phylogenetic Trees/Animal Genes : TreeFamMAP4K5
HOVERGENQ9Y4K4
HOGENOMQ9Y4K4
Homologs : HomoloGeneMAP4K5
Homology/Alignments : Family Browser (UCSC)MAP4K5
Gene fusions - Rearrangements
Fusion : MitelmanMAP4K5/NIN [14q21.3/14q22.1]  
Fusion : MitelmanMAP4K5/SAV1 [14q21.3/14q22.1]  [t(14;14)(q22;q22)]  
Fusion: TCGAMAP4K5 14q21.3 NIN 14q22.1 BRCA
Fusion: TCGAMAP4K5 14q21.3 SAV1 14q22.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAP4K5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAP4K5
dbVarMAP4K5
ClinVarMAP4K5
1000_GenomesMAP4K5 
Exome Variant ServerMAP4K5
ExAC (Exome Aggregation Consortium)MAP4K5 (select the gene name)
Genetic variants : HAPMAP11183
Genomic Variants (DGV)MAP4K5 [DGVbeta]
DECIPHERMAP4K5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAP4K5 
Mutations
ICGC Data PortalMAP4K5 
TCGA Data PortalMAP4K5 
Broad Tumor PortalMAP4K5
OASIS PortalMAP4K5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAP4K5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAP4K5
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
BioMutasearch MAP4K5
DgiDB (Drug Gene Interaction Database)MAP4K5
DoCM (Curated mutations)MAP4K5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAP4K5 (select a term)
intoGenMAP4K5
Cancer3DMAP4K5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604923   
Orphanet
MedgenMAP4K5
Genetic Testing Registry MAP4K5
NextProtQ9Y4K4 [Medical]
TSGene11183
GENETestsMAP4K5
Target ValidationMAP4K5
Huge Navigator MAP4K5 [HugePedia]
snp3D : Map Gene to Disease11183
BioCentury BCIQMAP4K5
ClinGenMAP4K5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11183
Chemical/Pharm GKB GenePA30613
Clinical trialMAP4K5
Miscellaneous
canSAR (ICR)MAP4K5 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAP4K5
EVEXMAP4K5
GoPubMedMAP4K5
iHOPMAP4K5
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 25 19:17:11 CEST 2017

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