GENE NAME | ATG7 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000197548 |
ENTREZ ID | 10533 |
UNIPROT ACCESSION NUMBER | O95352 |
GO MOLECULAR FUNCTION | protein homodimerization activity; Atg8 activating enzyme activity; protein binding; Atg12 activating enzyme activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-6802952; R-HSA-983168; R-HSA-168256; hsa04613; hsa04136; hsa04140; R-HSA-5663202; R-HSA-1280218; R-HSA-168249; R-HSA-1643685; hsa04216; R-HSA-6802957; R-HSA-1632852; R-HSA-6798695; R-HSA-983169; R-HSA-9612973 |
1 combination linked to ATG7 | OLI932 |
1 variant linked to ATG7 | ATG7:c.1277C>T, p.Pro426Leu |
1 disease linked to ATG7 | Rare pervasive developmental disorder |