| Primary Identifier | MGI:1341850 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12421 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables protein kinase binding activity. Involved in several processes, including autophagosome assembly; positive regulation of autophagy; and regulation of protein lipidation. Acts upstream of or within several processes, including positive regulation of cell size; regulation of signal transduction; and reticulophagy. Located in autophagosome membrane; nucleus; and phagophore assembly site membrane. Part of Atg1/ULK1 kinase complex. Is expressed in several structures, including cerebral cortex; ganglia; heart; musculoskeletal system; and trunk paraxial mesenchyme. Human ortholog(s) of this gene implicated in breast cancer. Orthologous to human RB1CC1 (RB1 inducible coiled-coil 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration. Conditional KO in the retinal pigment epithelium results in defective autophagy in and degeneration of the RPE, as well as degeneration of the retinal outer nuclear layer. [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
