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2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PYURF
PIGY upstream open reading frame
Chromosome 4 · 4q22.1
NCBI Gene: 100996939Ensembl: ENSG00000145337.5HGNC: HGNC:44317UniProt: Q96I23
11PubMed Papers
14Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein stabilizationmitochondrionendoplasmic reticulum membraneneurodegenerative diseasehyperphosphatasia-intellectual disability syndromelysosomal storage diseasemitochondrial disease
✦AI Summary

Based on limited published evidence, PYURF (PIGY upstream open reading frame) is an S-adenosylmethionine-dependent methyltransferase chaperone localized to mitochondria. It stabilizes components of coenzyme Q biosynthesis, including COQ5, and supports complex I (NADH:ubiquinone oxidoreductase) assembly by stabilizing assembly factors such as NDUFAF5 1. PYURF interacts with NDUFAF5 2, and disruption of PYURF has been associated with previously unresolved multisystemic mitochondrial disorders 1.

Sources cited
1
PYURF is an S-adenosylmethionine-dependent methyltransferase chaperone supporting complex I assembly and coenzyme Q biosynthesis; mutations cause multisystemic mitochondrial disorder
PMID: 35614220
2
Computational analysis identified PYURF-NDUFAF5 as a novel protein-protein interaction
PMID: 35881696
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ14
neurodegenerative diseaseOpen Targets
0.55Moderate
hyperphosphatasia-intellectual disability syndromeOpen Targets
0.44Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.33Weak
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
response to bronchodilatorOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
malunion fractureOpen Targets
0.02Suggestive
handednessOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
AnxietyOpen Targets
0.00Suggestive
metabolic acidosisOpen Targets
0.00Suggestive
optic atrophyOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)Pathogenic
Mitochondrial disease
☆☆☆☆2021→ Residue 97
View on ClinVar ↗
Related Genes
CPN2Shared pathway100%TELO2Shared pathway100%TSPAN1Shared pathway100%RPAP3Shared pathway100%TTI2Shared pathway100%NAA30Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
73%
Brain
31%
Liver
6%
Ovary
6%
Lung
5%
Gene Interaction Network
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PYURFCPN2TELO2TSPAN1RPAP3TTI2NAA30
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96I23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.64–1.76]
RankingsWhere PYURF stands among ~20K protein-coding genes
  • #16,874of 20,598
    Most Researched11
  • #5,472of 5,498
    Most Pathogenic Variants1
  • #16,395of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedPYURF
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Defining mitochondrial protein functions through deep multiomic profiling.
PMID: 35614220
Nature · 2022
1.00
2
Human mitochondrial protein complexes revealed by large-scale coevolution analysis and deep learning-based structure modeling.
PMID: 35881696
Bioinformatics · 2022
0.50