KMT5B (lysine methyltransferase 5B)

2016-01-01 Affiliation

Identity

HGNC

KMT5B

LOCATION

11q13.2

LOCUSID

51111

ALIAS

CGI-85,CGI85,MRD51,SUV420H1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51111
MIM: 610881
HGNC: 24283
Ensembl: ENSG00000110066

Variants:

dbSNP: 51111
ClinVar: 51111
TCGA: ENSG00000110066
COSMIC: KMT5B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110066	ENST00000304363	Q4FZB7
ENSG00000110066	ENST00000323599	H7BXP2
ENSG00000110066	ENST00000401547	Q4FZB7
ENSG00000110066	ENST00000402185	B7WNX0
ENSG00000110066	ENST00000402789	B5MCB3
ENSG00000110066	ENST00000405515	Q4FZB7
ENSG00000110066	ENST00000427752	F8WFA4
ENSG00000110066	ENST00000434573	C9JP58
ENSG00000110066	ENST00000441488	Q4FZB7
ENSG00000110066	ENST00000453170	C9J6S5
ENSG00000110066	ENST00000458496	C9JFG1
ENSG00000110066	ENST00000615954	Q4FZB7

Expression (GTEx)

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

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841

References

Pubmed ID	Year	Title	Citations
18296440	2008	Preferential dimethylation of histone H4 lysine 20 by Suv4-20.	55
19074285	2008	GRIP1-associated SET-domain methyltransferase in glucocorticoid receptor target gene expression.	15
24396869	2013	Crystal structures of the human histone H4K20 methyltransferases SUV420H1 and SUV420H2.	13
21206904	2010	Comparative analyses of SUV420H1 isoforms and SUV420H2 reveal differences in their cellular localization and effects on myogenic differentiation.	12
26235986	2015	Incorporating Functional Information in Tests of Excess De Novo Mutational Load.	10
26586479	2015	SUV420H1 enhances the phosphorylation and transcription of ERK1 in cancer cells.	10
28778956	2017	Histone H4K20 tri-methylation at late-firing origins ensures timely heterochromatin replication.	10
23720823	2013	FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.	9
26802048	2016	ε-globin expression is regulated by SUV4-20h1.	2
31255706	2019	Somatic Cancer Mutations in the SUV420H1 Protein Lysine Methyltransferase Modulate Its Catalytic Activity.	0

Citation

Dessen P

KMT5B (lysine methyltransferase 5B)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/77843/kmt5b