ATG7

The C-terminal part of the protein is essential for the dimerization and interaction with ATG3 and ATG12.

The N-terminal FAP motif (residues 15 to 17) is essential for the formation of the ATG89-PE and ATG5-ATG12 conjugates.

E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Facilitates LC3-I lipidation with phosphatidylethanolamine to form LC3-II which is found on autophagosomal membranes (PubMed:34161705). Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Also plays a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity).

Spinocerebellar ataxia, autosomal recessive, 31

SCAR31

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR30 is characterized by global developmental delay, hypotonia, variably impaired intellectual and language development, ataxic gait, tremor, and dysarthria. Most affected individuals have optic atrophy. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction.

None

The disease is caused by variants affecting the gene represented in this entry.

Acetylated by EP300.

Polyubiquitinated on Lys-45 via 'Lys-63'-linked ubiquitin by TRIM32; this modification positiely regulates ATG8 and ATG12 activating enzyme activity leading to initiation of autophagy under metabolic stress.

Belongs to the ATG7 family.

Widely expressed, especially in kidney, liver, lymph nodes and bone marrow.

• Cytoplasm
• Preautophagosomal structure
• Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme.

APG7L, ATG7, Ubiquitin-like modifier-activating enzyme ATG7, ATG12-activating enzyme E1 ATG7, Autophagy-related protein 7, Ubiquitin-activating enzyme E1-like protein, APG7-like, hAGP7

• entrezGene:10533
• omim:608760
• swissprot:O95352

Proteins

Oncology

• Neuroscience

77960Da