Gene Gene information from NCBI Gene database.
Entrez ID 10533
Gene name Autophagy related 7
Gene symbol ATG7
Synonyms (NCBI Gene)
APG7-LIKEAPG7LGSA7SCAR31
Chromosome 3
Chromosome location 3p25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
526
miRTarBase ID miRNA Experiments Reference
MIRT020034 hsa-miR-375 Microarray 20215506
MIRT036161 hsa-miR-320c CLASH 23622248
MIRT053396 hsa-miR-96-5p Microarray 23807165
MIRT497067 hsa-miR-4640-3p PAR-CLIP 22291592
MIRT494598 hsa-miR-6895-5p PAR-CLIP 22291592
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HSF1 Activation 23386620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 37943659
GO:0000045 Process Autophagosome assembly IMP 33446636
GO:0000045 Process Autophagosome assembly IMP 22170151
GO:0000407 Component Phagophore assembly site IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608760 16935 ENSG00000197548
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95352
Protein name Ubiquitin-like modifier-activating enzyme ATG7 (ATG12-activating enzyme E1 ATG7) (Autophagy-related protein 7) (APG7-like) (hAGP7) (Ubiquitin-activating enzyme E1-like protein)
Protein 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 phos
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16420 ATG7_N 13 323 Ubiquitin-like modifier-activating enzyme ATG7 N-terminus Domain
PF00899 ThiF 333 648 ThiF family Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, especially in kidney, liver, lymph nodes and bone marrow. {ECO:0000269|PubMed:11890701}.
Sequence
Sequence length 703
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - other
Autophagy - animal
Ferroptosis
Neutrophil extracellular trap formation
  Macroautophagy
Neutrophil degranulation
Signaling by BRAF and RAF fusions
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nonpapillary renal cell carcinoma Pathogenic rs200074530 RCV005911445
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 31 Pathogenic rs142493104, rs777067201, rs2152756968, rs2152811529, rs201706487, rs200074530 RCV001533545
RCV001533546
RCV001533547
RCV001533548
RCV001533550
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATG7-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 27091640
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 31531087
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28703808
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 14976209
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24362353
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35500219 Associate
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31090940
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 29089548
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 26468292
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29039784 Associate
★☆☆☆☆
Found in Text Mining only