AIMP1
entrez
9255
canonical
uniprot
Q12904
canonical
ensembl
ENSG00000164022
resolver
ensp
ENSP00000350699
resolver
ensp
ENSP00000500025
resolver
ensp
ENSP00000500620
resolver
ensp
ENSP00000500794
resolver
genesymbol
AIMP1
resolver
genesymbol_syn
EMAP2
resolver
genesymbol_syn
SCYE1
resolver
hgnc
HGNC:10648
resolver
uniprot
B3KTR2
resolver
uniprot
B4DNK3
resolver
uniprot
B4E1S7
resolver
uniprot
Q6FG28
resolver
uniprot
Q96CQ9
resolver
uniprot_entry
AIMP1_HUMAN
resolver
uniprot_entry
B4DNK3_HUMAN
resolver
uniprot_sec
B3KTR2
resolver
uniprot_sec
B4E1S7
resolver
uniprot_sec
Q6FG28
resolver
uniprot_sec
Q96CQ9
resolver
amino_acid_sequence
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPFPSGTPLHANSMVSENVIQSTAVTTVSSGTKEQIKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIGCIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILAPPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 3 (HLD3) [MIM:260600]: A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. {ECO:0000269|PubMed:21092922}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelial cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550). {ECO:0000250|UniProtKB:P31230, ECO:0000269|PubMed:10358004, ECO:0000269|PubMed:11157763, ECO:0000269|PubMed:11306575, ECO:0000269|PubMed:11818442, ECO:0000269|PubMed:12237313, ECO:0000269|PubMed:19362550}.
uniprot
proteins
mass_dalton
34353
uniprot
proteins
post_translational_modification
PTM: Cleaved by caspase-7 in response to apoptosis to produce EMAP-II. {ECO:0000269|PubMed:10850427, ECO:0000269|PubMed:11306575}.
uniprot
proteins
pubmed
10358004
uniprot
proteins
pubmed
10850427
uniprot
proteins
pubmed
10852899
uniprot
proteins
pubmed
11157763
uniprot
proteins
pubmed
11306575
uniprot
proteins
pubmed
11818442
uniprot
proteins
pubmed
12237313
uniprot
proteins
pubmed
14500886
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16472771
uniprot
proteins
pubmed
17443684
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19362550
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21092922
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24312579
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25288775
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
37316325
uniprot
proteins
pubmed
7929199
uniprot
proteins
sequence_length
312
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14500886}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Secreted {ECO:0000269|PubMed:10850427}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P31230}. Golgi apparatus {ECO:0000250|UniProtKB:P31230}. Note=Enriched in secretory vesicles of pancreatic alpha cells and secreted from the pancreas in response to low glucose levels (By similarity). Secreted in response to hypoxia (PubMed:10850427). Also secreted in response to both apoptotic and necrotic cell death. {ECO:0000250|UniProtKB:P31230, ECO:0000269|PubMed:10850427}.
uniprot
proteins