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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PHAF1
phagophore assembly factor 1
Chromosome 16 · 16q22.1
NCBI Gene: 80262Ensembl: ENSG00000125149.12HGNC: HGNC:29564UniProt: Q9BSU1
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphagophore assembly sitetrans-Golgi networkdendriteadolescent idiopathic scoliosishypotensionmyotonic dystrophy type 1myopathy
✦AI Summary

PHAF1 (phagophore assembly factor 1), also designated MYTHO (macro-autophagy and youth optimizer), is a FoxO-dependent autophagy regulator that plays a critical role in skeletal muscle homeostasis 1. PHAF1 functions as a regulatory component of the autophagy machinery, associating with autophagosome formation sites in complex with BCAS3 during both selective and non-selective autophagy. At the molecular level, PHAF1 serves as a biomarker for macroautophagy activation, with elevated expression correlating positively with LC3B-II:LC3B-I ratios during high-intensity exercise 2. PHAF1 expression is tightly regulated and upregulated in catabolic conditions including fasting, denervation, cachexia, and sepsis 1. While moderate PHAF1 upregulation supports adaptive autophagy responses to exercise 2, excessive or prolonged PHAF1 downregulation causes severe myopathy characterized by impaired autophagy, mTORC1 hyperactivation, muscle weakness, and ultrastructural degeneration 1. Conversely, PHAF1 overexpression is sufficient to induce muscle atrophy, positioning it as a critical rheostat controlling muscle mass balance 1. The mTORC1 inhibitor rapamycin partially rescues PHAF1-deficiency phenotypes, suggesting therapeutic potential. Additionally, PHAF1 is identified as a candidate gene for skeletal muscle remodeling in response to high-intensity interval exercise 3, highlighting its broader role in exercise-induced adaptation.

Sources cited
1
PHAF1/MYTHO is a FoxO-dependent autophagy regulator controlling muscle integrity; upregulated in muscle atrophy conditions; overexpression induces atrophy; prolonged downregulation causes myopathy with impaired autophagy and mTORC1 hyperactivation
PMID: 37309183
2
PHAF1/MYTHO is a novel macroautophagy biomarker highly upregulated by high-intensity exercise; expression correlates positively with LC3B-II:LC3B-I ratio, indicating autophagosome formation
PMID: 39009244
3
PHAF1 is identified as a candidate gene for skeletal muscle remodeling in response to high-intensity interval exercise
PMID: 39661768
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.07Suggestive
hypotensionOpen Targets
0.04Suggestive
myotonic dystrophy type 1Open Targets
0.03Suggestive
myopathyOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
CachexiaOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
muscular diseaseOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Genetic neuromuscular diseaseOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BLZF1Shared pathway50%SYS1Shared pathway33%RAB26Shared pathway33%VAMP5Shared pathway33%GOLPH3LShared pathway25%ARFRP1Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
35%
Brain
33%
Ovary
25%
Lung
25%
Heart
21%
Gene Interaction Network
Click a node to explore
PHAF1BLZF1SYS1RAB26VAMP5GOLPH3LARFRP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BSU1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.20Tolerant
Observed/Expected LoF0.42 [0.30–0.60]
RankingsWhere PHAF1 stands among ~20K protein-coding genes
  • #11,207of 20,598
    Most Researched34
  • #4,071of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedPHAF1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
PHAF1/MYTHO is a novel autophagy regulator that controls muscle integrity.
PMID: 37309183
Autophagy · 2024
1.00
2
Comparison of long- and short-rest periods during high-intensity interval exercise on transcriptomic responses in equine skeletal muscle.
PMID: 39661768
Physiol Genomics · 2025
0.67
3
Activation of macroautophagy and chaperone-mediated autophagy in human skeletal muscle by high-intensity exercise in normoxia and hypoxia and after recovery with or without post-exercise ischemia.
PMID: 39009244
Free Radic Biol Med · 2024
0.33