KMT5A (lysine methyltransferase 5A)

2015-11-01  

Identity

HGNC
KMT5A
LOCATION
12q24.31
LOCUSID
387893
ALIAS
PR-Set7,PR/SET07,SET07,SET8,SETD8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 387893
MIM: 607240
HGNC: 29489
Ensembl: ENSG00000183955

Variants:

dbSNP: 387893
ClinVar: 387893
TCGA: ENSG00000183955
COSMIC: KMT5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183955ENST00000330479A0A0C4DFR3
ENSG00000183955ENST00000402868Q9NQR1
ENSG00000183955ENST00000437502C9JKQ0
ENSG00000183955ENST00000437519F8WC45

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Condensation of Prophase ChromosomesREACTOMER-HSA-2299718
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through MethylationREACTOMER-HSA-6804760

References

Pubmed IDYearTitleCitations
177072342007Modulation of p53 function by SET8-mediated methylation at lysine 382.174
209324712010CRL4(Cdt2) regulates cell proliferation and histone gene expression by targeting PR-Set7/Set8 for degradation.127
209324712010CRL4(Cdt2) regulates cell proliferation and histone gene expression by targeting PR-Set7/Set8 for degradation.127
210353702010Regulation of the histone H4 monomethylase PR-Set7 by CRL4(Cdt2)-mediated PCNA-dependent degradation during DNA damage.122
209324722010CRL4(Cdt2)-mediated destruction of the histone methyltransferase Set8 prevents premature chromatin compaction in S phase.117
219839002012SET8 promotes epithelial-mesenchymal transition and confers TWIST dual transcriptional activities.80
225562622012Histone lysine methyltransferase SETD8 promotes carcinogenesis by deregulating PCNA expression.73
184087542008Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1.71
183192612008Direct interaction between SET8 and proliferating cell nuclear antigen couples H4-K20 methylation with DNA replication.65
212205082011SET8 is degraded via PCNA-coupled CRL4(CDT2) ubiquitylation in S phase and after UV irradiation.55

Citation

Dessen P

KMT5A (lysine methyltransferase 5A)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/51291/kmt5a