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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANTKMT
adenine nucleotide translocase lysine methyltransferase
Chromosome 16 Β· 16p13.3
NCBI Gene: 65990Ensembl: ENSG00000103254.10HGNC: HGNC:14152UniProt: J3KMW5
11PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein-lysine N-methyltransferase activitypeptidyl-lysine trimethylationprotein bindingatrial fibrillationheart failurebone fractureankylosing spondylitis
✦AI Summary

Based on limited published evidence, ANTKMT is a mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases (ANT2/SLC25A5 and ANT3/SLC25A6) at lysine-52, with probable activity toward ANT1/SLC25A4 1. This trimethylation regulates mitochondrial respiration and ATP synthesis. ANTKMT-deficient cells exhibit increased mitochondrial respiration compared to proficient cells, indicating functional significance of ANT methylation 1. The enzyme localizes to mitochondria via a noncanonical targeting sequence. ANTKMT has been identified as a candidate hub gene in hair follicle development pathways 2.

Sources cited
1
ANTKMT (FAM173A) trimethylates ANT2 and ANT3 at Lys-52, regulates mitochondrial respiration, and its deficiency increases mitochondrial respiration
PMID: 31213526
2
ANTKMT identified as a candidate hub gene in hair follicle cycle development
PMID: 33513983
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜16
atrial fibrillationOpen Targets
0.09Suggestive
heart failureOpen Targets
0.05Suggestive
bone fractureOpen Targets
0.05Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.03Suggestive
Testicular regression syndromeOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
adrenocortical carcinoma, hereditaryOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ATPSCKMTShared pathway100%EEF2KMTShared pathway50%VCPKMTShared pathway33%ASPSCR1Shared pathway25%CSKMTShared pathway25%SETD2Shared pathway6%
Tissue Expression6 tissues
Liver
100%
Lung
40%
Ovary
35%
Brain
22%
Bone Marrow
17%
Heart
16%
Gene Interaction Network
Click a node to explore
ANTKMTATPSCKMTEEF2KMTVCPKMTASPSCR1CSKMTSETD2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BQD7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.65 [1.17–1.95]
RankingsWhere ANTKMT stands among ~20K protein-coding genes
  • #16,667of 20,598
    Most Researched11
  • #17,660of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedANTKMT
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification of Key Pathways and Genes Related to the Development of Hair Follicle Cycle in Cashmere Goats.
PMID: 33513983
Genes (Basel) Β· 2021
1.00
2
Human FAM173A is a mitochondrial lysine-specific methyltransferase that targets adenine nucleotide translocase and affects mitochondrial respiration.
PMID: 31213526
J Biol Chem Β· 2019
0.50