KMT5A - lysine methyltransferase 5A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 387893

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 References 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 References 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 References 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

SET: SET domain (227 - 337)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
Protein Preferred Names Protein Names

N-lysine methyltransferase KMT5A

  • H4-K20-HMTase KMT5A

KMT5A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KMT5A Q9NQR1 TWIST1 Homo sapiens Q15672
Anti Tag CoIP
21983900
Intra
KMT5A Q9NQR1 TWIST1 Homo sapiens Q15672
Anti Bait CoIP
21983900
Intra
KMT5A Q9NQR1 TWIST1 Homo sapiens Q15672
Pull Down
21983900
Intra
KMT5A Q9NQR1 H4C16 Homo sapiens P62805
TAP
24981860
Intra
KMT5A Q9NQR1 H4C16 Homo sapiens P62805
SPR
15933069
Intra
KMT5A Q9NQR1 H4C16 Homo sapiens P62805
X-Ray Diffraction
15933069
Intra
KMT5A Q9NQR1 HNRNPC Homo sapiens P07910
TAP
24981860
Intra
KMT5A Q9NQR1 HNRNPC Homo sapiens P07910
Crosslink
30021884
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KMT5A Proteins

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

KMT5A Antibodies

Cat. No. Product Name Application Reactivity
HY-P81631 KMT5A Antibody (YA1376) WB, FC Human, Mouse, Rat
HY-P84818 KMT5A Antibody (YA4515) ICC/IF, FC, ELISA Human
HY-P84818A KMT5A Antibody (YA4515)(PBS only) ICC/IF, FC, ELISA Human
HY-P84819 KMT5A Antibody (YA4516) IHC-P, FC, ELISA Human
HY-P84819A KMT5A Antibody (YA4516)(PBS only) IHC-P, FC, ELISA Human

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

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-12335 UNC0379 Inhibitor 99.17% 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 Set / Unkown
HY-RS18288 Kmt5a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24766 Kmt5a Rat Pre-designed siRNA Set A Pre-designed Set / 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