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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHYKPL
5-phosphohydroxy-L-lysine phospho-lyase
Chromosome 5 · 5q35.3
NCBI Gene: 85007Ensembl: ENSG00000175309.17HGNC: HGNC:28249UniProt: Q8IUZ5
24PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingmitochondrial matrixpyridoxal phosphate bindingphosphohydroxylysinuriaulcerative colitisdental cariesglomerulonephritis
✦AI Summary

PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase) is a mitochondrial matrix enzyme that catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine into ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. This lysine metabolism enzyme participates in amino acid catabolism through protein-binding interactions within the mitochondrion. PHYKPL has emerged as a metabolism-related biomarker in multiple disease contexts. In rheumatoid arthritis-associated interstitial lung disease (RA-ILD), PHYKPL expression is significantly upregulated in circulating monocytes alongside other genes regulating inflammation and fibrosis 1. The gene was identified as part of a nine-gene prognostic signature in osteosarcoma, where metabolism-related PHYKPL expression correlates with patient prognosis and survival outcomes 2. Additionally, PHYKPL was selected as one of ten aging marker genes in a transcriptome-based aging clock that detects accelerated aging in individuals with bacterial or viral infections, suggesting its role in aging and infection-related pathophysiology 3. In systemic sclerosis, PHYKPL exhibits altered intron retention patterns in skin tissue and TGF-β-stimulated fibroblasts, potentially contributing to abnormal fibrosis pathways 4. While the primary metabolic function of PHYKPL remains amino acid catabolism, its dysregulation appears associated with fibrotic diseases, malignancy, and aging acceleration, indicating broader pathophysiological relevance beyond classical phosphohydroxylysinuria.

Sources cited
1
PHYKPL exhibits altered intron retention patterns in systemic sclerosis skin tissue and TGF-β-stimulated fibroblasts, participating in fibrosis-related pathways
PMID: 39265192
2
PHYKPL expression is significantly upregulated in circulating monocytes from rheumatoid arthritis-associated interstitial lung disease patients, involved in regulating inflammation and fibrosis
PMID: 39412518
3
PHYKPL serves as a metabolism-related biomarker in osteosarcoma with prognostic value for patient outcomes
PMID: 40148931
4
PHYKPL is identified as an aging marker gene in a transcriptome-based aging clock that detects accelerated aging in individuals with bacterial or viral infections
PMID: 40089807
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
phosphohydroxylysinuriaOpen Targets
0.57Moderate
ulcerative colitisOpen Targets
0.32Weak
dental cariesOpen Targets
0.31Weak
glomerulonephritisOpen Targets
0.30Weak
primary thrombocytopeniaOpen Targets
0.27Weak
osteomyelitisOpen Targets
0.10Weak
adolescent idiopathic scoliosisOpen Targets
0.09Suggestive
contact dermatitisOpen Targets
0.06Suggestive
female infertilityOpen Targets
0.06Suggestive
osteitis deformansOpen Targets
0.06Suggestive
placental retentionOpen Targets
0.06Suggestive
insomniaOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
ocular hypotensionOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
pathological myopiaOpen Targets
0.05Suggestive
pancreatic carcinomaOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
aceruloplasminemiaOpen Targets
0.03Suggestive
pseudohypoparathyroidism type 2Open Targets
0.03Suggestive
PhosphohydroxylysinuriaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HYKKProtein interaction100%AASSProtein interaction94%ALDH7A1Protein interaction94%AASDHProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Ovary
55%
Lung
48%
Bone Marrow
29%
Heart
28%
Brain
5%
Gene Interaction Network
Click a node to explore
PHYKPLHYKKAASSALDH7A1AASDH
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUZ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.61–1.02]
RankingsWhere PHYKPL stands among ~20K protein-coding genes
  • #13,272of 20,598
    Most Researched24
  • #10,011of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPHYKPL
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Alternative splicing and intron retention: Their profiles and roles in cutaneous fibrosis of systemic sclerosis.
PMID: 39265192
J Autoimmun · 2024
1.00
2
Unique transcriptomic profile of peripheral blood monocytes in rheumatoid arthritis-associated interstitial lung disease.
PMID: 39412518
Rheumatology (Oxford) · 2025
0.75
3
Construction and evaluation of a prognostic model based on the expression of the metabolism-related signatures in patients with osteosarcoma.
PMID: 40148931
BMC Musculoskelet Disord · 2025
0.50
4
Human Peripheral Blood Leukocyte Transcriptome-Based Aging Clock Reveals Acceleration of Aging by Bacterial or Viral Infections.
PMID: 40089807
J Gerontol A Biol Sci Med Sci · 2025
0.25