AIMP2
entrez
7965
canonical
uniprot
Q13155
canonical
ensembl
ENSG00000106305
resolver
ensp
ENSP00000223029
resolver
ensp
ENSP00000378658
resolver
ensp
ENSP00000383327
resolver
ensp
ENSP00000667229
resolver
enst
ENST00000400479
resolver
genesymbol
AIMP2
resolver
genesymbol_syn
JTV1
resolver
hgnc
HGNC:20609
resolver
uniprot
A8MU58
resolver
uniprot
F8W950
resolver
uniprot
Q75MR1
resolver
uniprot
Q96CZ5
resolver
uniprot
Q9P1L2
resolver
uniprot_entry
A8MU58_HUMAN
resolver
uniprot_entry
AIMP2_HUMAN
resolver
uniprot_sec
F8W950
resolver
uniprot_sec
Q75MR1
resolver
uniprot_sec
Q96CZ5
resolver
uniprot_sec
Q9P1L2
resolver
amino_acid_sequence
MPMYQVKPYHGGGAPLRVELPTCMYRLPNVHGRSYGPAPGAGHVQEESNLSLQALESRQDDILKRLYELKAAVDGLSKMIQTPDADLDVTNIIQADEPTTLTTNALDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSALGKSPWLAGNELTVADVVLWSVLQQIGGCSVTVPANVQRWMRSCENLAPFNTALKLLK
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 17 (HLD17) [MIM:618006]: 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. {ECO:0000269|PubMed:29215095}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:16135753, ECO:0000269|PubMed:19131329}.
uniprot
proteins
mass_dalton
35349
uniprot
proteins
mutagenesis
MUTAGEN 163..164; /note="EN->AA: Reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity."; /evidence="ECO:0000269|PubMed:18695251"; MUTAGEN 172..173; /note="QN->AA: Reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity."; /evidence="ECO:0000269|PubMed:18695251"; MUTAGEN 215; /note="R->A: Nearly abolishes interaction with EPRS1."; /evidence="ECO:0000269|PubMed:26472928"; MUTAGEN 238; /note="D->R: Nearly abolishes interaction with EPRS1."; /evidence="ECO:0000269|PubMed:26472928
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues in response to UV irradiation. {ECO:0000250}.; PTM: 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. {ECO:0000269|PubMed:16135753}.
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12819782
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15220430
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16135753
uniprot
proteins
pubmed
18029264
uniprot
proteins
pubmed
18695251
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23159739
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24312579
uniprot
proteins
pubmed
26074468
uniprot
proteins
pubmed
26472928
uniprot
proteins
pubmed
29215095
uniprot
proteins
pubmed
8666379
uniprot
proteins
pubmed
9878398
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Nucleus {ECO:0000250|UniProtKB:Q8R010}. Note=Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus. {ECO:0000250|UniProtKB:Q8R010}.
uniprot
proteins