AIMP2
Function
Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor.
Involvement in disease
Leukodystrophy, hypomyelinating, 17
HLD17
An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on serine residues in response to UV irradiation.
Ubiquitinated by PRKN, leading to its degradation by the proteasome. Mutant PRKN fails to ubiquitinate AIMP2 efficiently, allowing its accumulation which may contribute to neurodegeneration associated with Parkinson disease.
Cellular localization
- Cytoplasm
- Cytosol
- Nucleus
- Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus.
Alternative names
JTV1, PRO0992, AIMP2, Aminoacyl tRNA synthase complex-interacting multifunctional protein 2, Multisynthase complex auxiliary component p38, Protein JTV-1