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GeneE
6 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.
HYKK
hydroxylysine kinase
Chromosome 15 Β· 15q25.1
NCBI Gene: 123688Ensembl: ENSG00000188266.14HGNC: HGNC:34403UniProt: A2RU49
30PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hydroxylysine kinase activityamino acid kinase activityL-lysine catabolic processmitochondrial matrixchronic obstructive pulmonary diseasenicotine dependencelung carcinomaHypoxemia
✦AI Summary

HYKK (hydroxylysine kinase) catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine and functions as an amino acid kinase localized to the mitochondrial matrix. While its primary biochemical role involves hydroxylysine metabolism, recent genetic evidence has revealed disease relevance: HYKK variants are associated with chr15 obstructive pulmonary disease (COPD) susceptibility through regulatory effects on the IREB2 gene locus at chromosome 15.1 1. Specifically, the HYKK rs8034191:T>C variant showed significant association with blood DNA methylation and differential IREB2 expression in lung tissues 1. Most notably, HYKK (also known as AGPHD1) has been identified as a potential therapeutic target for lung squamous cell carcinoma, with consistent genetic associations demonstrated across both discovery and replication cohorts showing increased cancer risk (OR = 1.28, 95% CI = 1.24-1.33) 2. Meta-analytic evidence also supports the HYKK rs931794 variant as significantly associated with lung cancer susceptibility with strong cumulative epidemiological evidence 3. These findings suggest HYKK warrants further investigation as both a mechanistic contributor to respiratory disease and a potential drug target for cancer prevention and treatment.

Sources cited
1
HYKK (AGPHD1) is associated with increased risk of squamous cell carcinoma of the lung (OR=1.28, 95%CI=1.24-1.33) and identified as potential therapeutic target
PMID: 38834983
2
HYKK rs931794 variant shows significant association with lung cancer susceptibility with strong cumulative epidemiological evidence
PMID: 28827732
3
HYKK rs8034191:T>C variant at chromosome 15q25.1 is associated with COPD and affects IREB2 DNA methylation and expression in lung tissues
PMID: 29422661
4
HYKK is part of the chromosome 15q25.1 locus region involved in nicotine dependence and CHRNA5 methylation regulation
PMID: 26220977
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
chronic obstructive pulmonary diseaseOpen Targets
0.33Weak
nicotine dependenceOpen Targets
0.31Weak
lung carcinomaOpen Targets
0.19Weak
HypoxemiaOpen Targets
0.15Weak
asphyxiaOpen Targets
0.12Weak
squamous cell lung carcinomaOpen Targets
0.07Suggestive
pulmonary coin lesionOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
bacterial pneumoniaOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.05Suggestive
emphysemaOpen Targets
0.05Suggestive
heart failureOpen Targets
0.05Suggestive
schizophreniaOpen Targets
0.04Suggestive
Chronic Obstructive AsthmaOpen Targets
0.04Suggestive
brain aneurysmOpen Targets
0.03Suggestive
agingOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
lower respiratory tract diseaseOpen Targets
0.03Suggestive
Abnormal lung morphologyOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_001013619.4(HYKK):c.337+256T>CLikely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
AASSShared pathway100%PIPOXShared pathway100%SLC25A21Shared pathway100%PHYKPLProtein interaction100%ETNPPLProtein interaction93%CHRNA3Protein interaction89%
Tissue Expression6 tissues
Ovary
100%
Heart
94%
Liver
87%
Brain
36%
Lung
28%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
HYKKAASSPIPOXSLC25A21PHYKPLETNPPLCHRNA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A2RU49
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.42–0.95]
RankingsWhere HYKK stands among ~20K protein-coding genes
  • #11,944of 20,598
    Most Researched30
  • #5,265of 5,498
    Most Pathogenic Variants1
  • #8,893of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedHYKK
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Systematic druggable genome-wide Mendelian randomization identifies therapeutic targets for lung cancer.
PMID: 38834983
BMC Cancer Β· 2024
1.00
2
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.
PMID: 28827732
Sci Rep Β· 2017
0.83
3
Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.
PMID: 29422661
Eur J Hum Genet Β· 2018
0.67
4
A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence.
PMID: 26220977
Hum Mol Genet Β· 2015
0.50
5
The male-specific histocompatibility antigen, H-Y: a history of transplantation, immune response genes, sex determination and expression cloning.
PMID: 9143681
Annu Rev Immunol Β· 1997
0.33