ATG5

The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

Autophagy Related 5

Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747).
Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).

Aggrephagy Source: ParkinsonsUK-UCL
Antigen processing and presentation of endogenous antigen Source: Ensembl
Apoptotic process Source: UniProtKB-KW
Autophagosome assembly Source: UniProtKB
Autophagy Source: UniProtKB
Autophagy of mitochondrion Source: GO_Central
Autophagy of nucleus Source: GO_Central
Blood vessel remodeling Source: Ensembl
Cellular response to nitrogen starvation Source: GO_Central
Cellular response to nitrosative stress Source: Ensembl
C-terminal protein lipidation Source: GO_Central
Heart contraction Source: Ensembl
Macroautophagy Source: Reactome
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell death Source: MGI
Negative regulation of histone H4-K16 acetylation Source: Ensembl
Negative regulation of phagocytosis Source: Ensembl
Negative regulation of protein ubiquitination Source: Ensembl
Negative regulation of reactive oxygen species metabolic process Source: Ensembl
Negative stranded viral RNA replication Source: Ensembl
Negative thymic T cell selection Source: Ensembl
Otolith development Source: Ensembl
Positive regulation by symbiont of host autophagy Source: UniProtKB
Positive regulation of mucus secretion Source: Ensembl
Post-translational protein modification Source: UniProtKB
Protein lipidation involved in autophagosome assembly Source: Ensembl
Regulation of cilium assembly Source: UniProtKB
Regulation of cytokine production involved in immune response Source: Ensembl
Regulation of release of sequestered calcium ion into cytosol Source: Ensembl
Response to drug Source: Ensembl
Response to fungus Source: Ensembl
Vasodilation Source: Ensembl
Ventricular cardiac muscle cell development Source: Ensembl

Cytoplasm; Preautophagosomal structure membrane. Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme.

Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25): 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. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging.

Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
Acetylated by EP300.