| Primary Identifier | MGI:1277186 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 11793 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to Atg8-family ligase activity. Involved in several processes, including cellular response to nitrosative stress; macroautophagy; and negative regulation of defense response. Acts upstream of with a positive effect on chromatin organization. Acts upstream of or within several processes, including defense response to symbiont; negative regulation of cardiac muscle cell apoptotic process; and negative stranded viral RNA replication. Located in several cellular components, including autophagosome; mitochondria-associated endoplasmic reticulum membrane contact site; and phagophore assembly site membrane. Part of Atg12-Atg5-Atg16 complex. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in central nervous system; heart; lower jaw molar; and sensory organ. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 25. Orthologous to human ATG5 (autophagy related 5). PHENOTYPE: Mutation of this gene results in impaired autophagy due to absence of autolysosomes. Homozygotes die within 1 day of birth, and have shorter survival times and reduced amino acid levels under fasting conditions. Homozygotes for a gene trap insertion mutationin this gene show no abnormal phenotype. A kidney proximal tubular cell-specific KO allele exacerbates renal inflammation in mice subjected to unilateral ureteric obstruction. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
