• Gene id: 10533

Gene Summary

• Gene Symbol: ATG7   Gene   UCSC   Ensembl
• Aliases: APG7-LIKE, APG7L, GSA7
• Gene name: autophagy related 7
• Alternate names: ubiquitin-like modifier-activating enzyme ATG7, APG7 autophagy 7-like, ATG12-activating enzyme E1 ATG7, hAGP7, ubiquitin-activating enzyme E1-like protein,
• Gene location: 3p25.3 (11272347: 11564651)     Exons: 29     NC_000017.11
• Gene summary(Entrez): This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associate
• OMIM: 608760

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal
hsa04136	Autophagy - other
hsa04216	Ferroptosis
hsa04140	Autophagy - animal
hsa04216	Ferroptosis
hsa04136	Autophagy - other

Diseases

Associated diseases	References
Huntington's disease	GAD: 20697744
Required for acrosome biogenesis during spermatogenesis	MIK: 24853953
Cryptorchidism	MIK: 28606200
Required for acrosome biogenesis during spermatogenesis	MIK: 24853953
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24853953	Required for acrosome biogenesis during spermatogenesis				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R