KMT5A - lysine methyltransferase 5A Gene

Homo sapiens

Also known as SET8; SET07; SETD8; PR-Set7; PR/SET07

Gene ID: 387893 | Gene type: protein coding

About KMT5A

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,384,132-123,409,353 (from NCBI)

This gene has 8 transcripts (splice variants) and 102 orthologues. Ubiquitous expression in prostate (RPKM 17.6), esophagus (RPKM 16.8) and 25 other tissues.

Summary

The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]

KMT5A Products(7)

mRNA	Protein	Name
NM_001324504.2	NP_001311433.1	N-lysine methyltransferase KMT5A isoform 2
NM_001324505.2	NP_001311434.1	N-lysine methyltransferase KMT5A isoform 3
NM_001324506.2	NP_001311435.1	N-lysine methyltransferase KMT5A isoform 4
NM_001367386.2	NP_001354315.1	N-lysine methyltransferase KMT5A isoform 5
NM_001367388.2	NP_001354317.1	N-lysine methyltransferase KMT5A isoform 6
NM_001367389.2	NP_001354318.1	N-lysine methyltransferase KMT5A isoform 4
NM_020382.7	NP_065115.3	N-lysine methyltransferase KMT5A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H4K20 methyltransferase activity	IDA IDA: Inferred from direct assay	27338793	GOA
enables histone methyltransferase activity	IDA IDA: Inferred from direct assay	17707234	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15933069	GOA
enables protein-lysine N-methyltransferase activity	IDA IDA: Inferred from direct assay	17707234	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	18408754	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18474616	GOA
involved in negative regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27338793	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17707234	GOA
involved in peptidyl-lysine monomethylation	IDA IDA: Inferred from direct assay	17707234	GOA
involved in regulation of DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	17707234	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	27338793	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KMT5A Protein Structure

SET

0
100
200
300
352 a.a.

Protein Preferred Names

Protein Names

N-lysine methyltransferase KMT5A

H4-K20-HMTase KMT5A

Recombinant KMT5A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74613	PR-Set7 Protein, Human	Q9NQR1-2/NP_065115 (K195-H352)	≥95%

Related Diseases

Diseases

Alias

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12335	UNC0379	Inhibitor	99.90%	Unkown
HY-100625	BVT948	Inhibitor	≥99.0%	Unkown
HY-12335A	UNC0379 TFA	Inhibitor	99.91%	Unkown
HY-RS07406	KMT5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KMT5A	VGNC	VGNC:42493
Bos taurus	KMT5A	VGNC	VGNC:53910
Rattus norvegicus	KMT5A	RGD	RGD:1587560
Mus musculus	KMT5A	MGD	MGI:1915206
Macaca mulatta	KMT5A	VGNC	VGNC:74159
Others	KMT5A	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.