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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KMT5A
lysine methyltransferase 5A
Chromosome 12 · 12q24.31
NCBI Gene: 387893Ensembl: ENSG00000183955.14HGNC: HGNC:29489UniProt: E3VVS3
124PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionnegative regulation of double-strand break repair via homologous recombinationchromatinpeptidyl-lysine monomethylationHepatomegalyosteoarthritis, kneebreast adenocarcinomaosteoarthritis, hip
✦AI Summary

KMT5A (lysine methyltransferase 5A) is a protein-lysine N-methyltransferase that catalyzes monomethylation of histone H4 at lysine 20 (H4K20me1) 123. This mark is enriched during mitosis and functions as an epigenetic tag for transcriptional repression in euchromatic regions 13. KMT5A is essential for cell proliferation, chromosome 12, and proper cytokinesis by maintaining DNA higher-order structure during mitosis 14. Beyond histones, KMT5A monomethylates non-histone substrates including p53/TP53 at lysine 382, suppressing p53-target genes 5, SNIP1 to promote YAP signaling in triple-negative breast cancer 6, and CD147 to enhance lactate export in lung cancer 7. KMT5A is overexpressed in multiple cancer types and drives oncogenic functions through both histone and non-histone methylation 8. In thyroid cancer, KMT5A promotes proliferation and regulates lipid metabolism 9. Conversely, inflammation-induced downregulation of KMT5A impairs H4K20me1 deposition in aging muscle stem cells, leading to ferroptosis 10. KMT5A also participates in epigenetic regulation during mitosis through interaction with metabolic enzymes 11. These diverse functions establish KMT5A as a critical regulator of chr12 organization, cancer progression, and cellular aging.

Sources cited
1
Beyond histones, KMT5A monomethylates non-histone substrates including p53/TP53 at lysine 382, suppressing p53-target genes , SNIP1 to promote YAP signaling in triple-negative breast cancer , and CD147 to enhance lactate export in lung cancer .
PMID: 17707234
2
Beyond histones, KMT5A monomethylates non-histone substrates including p53/TP53 at lysine 382, suppressing p53-target genes , SNIP1 to promote YAP signaling in triple-negative breast cancer , and CD147 to enhance lactate export in lung cancer .
PMID: 35449131
3
Beyond histones, KMT5A monomethylates non-histone substrates including p53/TP53 at lysine 382, suppressing p53-target genes , SNIP1 to promote YAP signaling in triple-negative breast cancer , and CD147 to enhance lactate export in lung cancer .
PMID: 33406400
4
KMT5A is overexpressed in multiple cancer types and drives oncogenic functions through both histone and non-histone methylation .
PMID: 41024086
5
In thyroid cancer, KMT5A promotes proliferation and regulates lipid metabolism .
PMID: 29512765
6
Conversely, inflammation-induced downregulation of KMT5A impairs H4K20me1 deposition in aging muscle stem cells, leading to ferroptosis .
PMID: 40588650
7
KMT5A also participates in epigenetic regulation during mitosis through interaction with metabolic enzymes .
PMID: 39532843
Disease Associationsⓘ20
HepatomegalyOpen Targets
0.22Weak
osteoarthritis, kneeOpen Targets
0.22Weak
breast adenocarcinomaOpen Targets
0.20Weak
osteoarthritis, hipOpen Targets
0.19Weak
total knee arthroplastyOpen Targets
0.17Weak
spondyloarthropathyOpen Targets
0.14Weak
osteoarthritisOpen Targets
0.13Weak
prostate cancerOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
endometriosisOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
vertebral disorderOpen Targets
0.10Weak
asthmaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
spinal stenosisOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H2AC13Protein interaction100%H2AC15Protein interaction100%H2AC16Protein interaction100%H2AC6Protein interaction100%H4C6Protein interaction100%H4C7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Liver
45%
Ovary
42%
Heart
37%
Brain
30%
Gene Interaction Network
Click a node to explore
KMT5AH2AC13H2AC15H2AC16H2AC6H4C6H4C7
PROTEIN STRUCTURE
Preparing viewer…
PDB3F9X · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.09–0.31]
RankingsWhere KMT5A stands among ~20K protein-coding genes
  • #3,797of 20,598
    Most Researched124 · top quartile
  • #1,246of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedKMT5A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Myocardial infarction drives trained immunity of monocytes, accelerating atherosclerosis.
PMID: 38085922
Eur Heart J · 2024
1.00
2
KMT5A-methylated SNIP1 promotes triple-negative breast cancer metastasis by activating YAP signaling.
PMID: 35449131
Nat Commun · 2022
0.90
3
Di-methylation of CD147-K234 Promotes the Progression of NSCLC by Enhancing Lactate Export.
PMID: 33406400
Cell Metab · 2021
0.80
4
Multiple functions of the lysine methyltransferase KMT5a in cancer: potential targets for innovative therapies.
PMID: 41024086
Clin Epigenetics · 2025
0.70
5
OXCT1 promotes triple negative breast cancer immune escape via modulating succinylation modification of PGK1.
PMID: 40634657
Commun Biol · 2025
0.60