ATG7
entrez
10533
canonical
uniprot
O95352
canonical
ensembl
ENSG00000197548
resolver
ensp
ENSP00000346437
resolver
ensp
ENSP00000347042
resolver
ensp
ENSP00000412580
resolver
ensp
ENSP00000509725
resolver
ensp
ENSP00000510336
resolver
ensp
ENSP00000561288
resolver
ensp
ENSP00000581913
resolver
ensp
ENSP00000581915
resolver
ensp
ENSP00000638415
resolver
ensp
ENSP00000672446
resolver
ensp
ENSP00000708567
resolver
ensp
ENSP00000776674
resolver
ensp
ENSP00000794765
resolver
genesymbol
ATG7
resolver
genesymbol_syn
APG7L
resolver
hgnc
HGNC:16935
resolver
uniprot
B3KQM6
resolver
uniprot
B4E170
resolver
uniprot
E9PB95
resolver
uniprot
Q7L8L0
resolver
uniprot
Q9BWP2
resolver
uniprot
Q9UFH4
resolver
uniprot_entry
ATG7_HUMAN
resolver
uniprot_entry
B3KQM6_HUMAN
resolver
uniprot_sec
B4E170
resolver
uniprot_sec
E9PB95
resolver
uniprot_sec
Q7L8L0
resolver
uniprot_sec
Q9BWP2
resolver
uniprot_sec
Q9UFH4
resolver
amino_acid_sequence
MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEIWDMSDDETI
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422]: 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. {ECO:0000269|PubMed:34161705}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q9D906, ECO:0000269|PubMed:11096062, ECO:0000269|PubMed:16303767, ECO:0000269|PubMed:22170151, ECO:0000269|PubMed:34161705}.
uniprot
proteins
mass_dalton
77960
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="F->D: Impairs conjugation activity; when associated with D-16 and D-17."; /evidence="ECO:0000269|PubMed:22170151"; MUTAGEN 16; /note="A->D: Impairs conjugation activity; when associated with D-15 and D-17."; /evidence="ECO:0000269|PubMed:22170151"; MUTAGEN 17; /note="P->D: Impairs conjugation activity; when associated with D-15 and D-16."; /evidence="ECO:0000269|PubMed:22170151"; MUTAGEN 45; /note="K->R: Impairs interaction with ATG12. Impairs interaction with MAP1LC3B."; /evidence="ECO:0000269|PubMed:37943659"; MUTAGEN 243; /note="W->A: Moderately impairs ATG3 binding. Moderately reduces GABARAP-ATG3 thioester bond formation. Moderately reduces GABARAP lipidation."; /evidence="ECO:0000269|PubMed:26043688"; MUTAGEN 246; /note="R->D: Almost completely impairs ATG3 binding. Severely reduces GABARAP-ATG3 thioester bond formation. Severely reduces GABARAP lipidation."; /evidence="ECO:0000269|PubMed:26043688"; MUTAGEN 572; /note="C->A: Loss of LC3-I lipidation to form LC3-II."; /evidence="ECO:0000269|PubMed:34161705
uniprot
proteins
post_translational_modification
PTM: Acetylated by EP300. {ECO:0000269|PubMed:19124466}.; PTM: 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. {ECO:0000269|PubMed:37943659}.
uniprot
proteins
protein_family
ATG7 family
uniprot
proteins
pubmed
10233149
uniprot
proteins
pubmed
11096062
uniprot
proteins
pubmed
11825910
uniprot
proteins
pubmed
11890701
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303767
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19124466
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20543840
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22170151
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23386620
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26043688
uniprot
proteins
pubmed
34161705
uniprot
proteins
pubmed
37943659
uniprot
proteins
sequence_length
703
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Preautophagosomal structure {ECO:0000250}. Note=Also localizes to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.
uniprot
proteins