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KMT5A (lysine methyltransferase 5A)

Identity

Alias_namesSETD8
SET domain containing (lysine methyltransferase) 8
lysine (K)-specific methyltransferase 5A
Alias_symbol (synonym)SET8
SET07
PR-Set7
Other alias
HGNC (Hugo) KMT5A
LocusID (NCBI) 387893
Atlas_Id 51291
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123384116 and ends at 123409353 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KMT5A (12q24.31) / CDK2AP1 (12q24.31)KMT5A (12q24.31) / RILPL2 (12q24.31)KMT5A 12q24.31 / RILPL2 12q24.31

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)KMT5A   29489
Cards
Entrez_Gene (NCBI)KMT5A  387893  lysine methyltransferase 5A
AliasesPR-Set7; SET07; SET8; SETD8
GeneCards (Weizmann)KMT5A
Ensembl hg19 (Hinxton)ENSG00000183955 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183955 [Gene_View]  chr12:123384116-123409353 [Contig_View]  KMT5A [Vega]
ICGC DataPortalENSG00000183955
TCGA cBioPortalKMT5A
AceView (NCBI)KMT5A
Genatlas (Paris)KMT5A
WikiGenes387893
SOURCE (Princeton)KMT5A
Genetics Home Reference (NIH)KMT5A
Genomic and cartography
GoldenPath hg38 (UCSC)KMT5A  -     chr12:123384116-123409353 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KMT5A  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblKMT5A - 12q24.31 [CytoView hg19]  KMT5A - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIKMT5A [Mapview hg19]  KMT5A [Mapview hg38]
OMIM607240   
Gene and transcription
Genbank (Entrez)AF287261 AK292645 AY064546 AY102937 BC050346
RefSeq transcript (Entrez)NM_001324504 NM_001324505 NM_001324506 NM_020382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KMT5A
Cluster EST : UnigeneHs.572262 [ NCBI ]
CGAP (NCI)Hs.572262
Alternative Splicing GalleryENSG00000183955
Gene ExpressionKMT5A [ NCBI-GEO ]   KMT5A [ EBI - ARRAY_EXPRESS ]   KMT5A [ SEEK ]   KMT5A [ MEM ]
Gene Expression Viewer (FireBrowse)KMT5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)387893
GTEX Portal (Tissue expression)KMT5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQR1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQR1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQR1
Splice isoforms : SwissVarQ9NQR1
Catalytic activity : Enzyme2.1.1.- [ Enzyme-Expasy ]   2.1.1.-2.1.1.- [ IntEnz-EBI ]   2.1.1.- [ BRENDA ]   2.1.1.- [ KEGG ]   
PhosPhoSitePlusQ9NQR1
Domaine pattern : Prosite (Expaxy)SAM_MT43_PR_SET (PS51571)    SET (PS50280)   
Domains : Interpro (EBI)Hist_H4-K20_MeTrfase    SET_dom   
Domain families : Pfam (Sanger)SET (PF00856)   
Domain families : Pfam (NCBI)pfam00856   
Domain families : Smart (EMBL)SET (SM00317)  
Conserved Domain (NCBI)KMT5A
DMDM Disease mutations387893
Blocks (Seattle)KMT5A
PDB (SRS)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
PDB (PDBSum)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
PDB (IMB)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
PDB (RSDB)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
Structural Biology KnowledgeBase1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
SCOP (Structural Classification of Proteins)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
CATH (Classification of proteins structures)1ZKK    2BQZ    3F9W    3F9X    3F9Y    3F9Z    4IJ8    5HQ2    5T5G    5TEG    5TH7   
SuperfamilyQ9NQR1
Human Protein AtlasENSG00000183955
Peptide AtlasQ9NQR1
HPRD06254
IPIIPI00288890   IPI00375894   IPI00879153   IPI00879857   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQR1
IntAct (EBI)Q9NQR1
FunCoupENSG00000183955
BioGRIDKMT5A
STRING (EMBL)KMT5A
ZODIACKMT5A
Ontologies - Pathways
QuickGOQ9NQR1
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  p53 binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  chromosome  cytosol  transcription, DNA-templated  cell cycle  lysine N-methyltransferase activity  protein-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  histone H4-K20 methylation  histone methyltransferase activity (H4-K20 specific)  regulation of DNA damage response, signal transduction by p53 class mediator  negative regulation of transcription, DNA-templated  cell division  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  p53 binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  chromosome  cytosol  transcription, DNA-templated  cell cycle  lysine N-methyltransferase activity  protein-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  histone H4-K20 methylation  histone methyltransferase activity (H4-K20 specific)  regulation of DNA damage response, signal transduction by p53 class mediator  negative regulation of transcription, DNA-templated  cell division  regulation of signal transduction by p53 class mediator  
NDEx NetworkKMT5A
Atlas of Cancer Signalling NetworkKMT5A
Wikipedia pathwaysKMT5A
Orthology - Evolution
OrthoDB387893
GeneTree (enSembl)ENSG00000183955
Phylogenetic Trees/Animal Genes : TreeFamKMT5A
HOVERGENQ9NQR1
HOGENOMQ9NQR1
Homologs : HomoloGeneKMT5A
Homology/Alignments : Family Browser (UCSC)KMT5A
Gene fusions - Rearrangements
Fusion : MitelmanKMT5A/RILPL2 [12q24.31/12q24.31]  
Fusion: TCGAKMT5A 12q24.31 RILPL2 12q24.31 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKMT5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KMT5A
dbVarKMT5A
ClinVarKMT5A
1000_GenomesKMT5A 
Exome Variant ServerKMT5A
ExAC (Exome Aggregation Consortium)KMT5A (select the gene name)
Genetic variants : HAPMAP387893
Genomic Variants (DGV)KMT5A [DGVbeta]
DECIPHERKMT5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKMT5A 
Mutations
ICGC Data PortalKMT5A 
TCGA Data PortalKMT5A 
Broad Tumor PortalKMT5A
OASIS PortalKMT5A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKMT5A
BioMutasearch KMT5A
DgiDB (Drug Gene Interaction Database)KMT5A
DoCM (Curated mutations)KMT5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KMT5A (select a term)
intoGenKMT5A
Cancer3DKMT5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607240   
Orphanet
MedgenKMT5A
Genetic Testing Registry KMT5A
NextProtQ9NQR1 [Medical]
TSGene387893
GENETestsKMT5A
Target ValidationKMT5A
Huge Navigator KMT5A [HugePedia]
snp3D : Map Gene to Disease387893
BioCentury BCIQKMT5A
ClinGenKMT5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD387893
Chemical/Pharm GKB GenePA143485616
Clinical trialKMT5A
Miscellaneous
canSAR (ICR)KMT5A (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKMT5A
EVEXKMT5A
GoPubMedKMT5A
iHOPKMT5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:39:54 CEST 2017

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