AIMP1
Aminoacyl tRNA synthase complex-interacting multifunctional protein 1
Also known as: AIMP1_HUMAN, EMAP-2, EMAPII, p43, SCYE1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12904
- Gene
- AIMP1
- Ensembl
- ENSG00000164022
- Chromosome
- 4
- Canonical length
- 312 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Cytosol
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
Canonical amino-acid sequenceUniProt
312 residues, UniProt reviewed canonical sequence.
>Q12904|AIMP1
1 MANNDAVLKR LEQKGAEADQ IIEYLKQQVS LLKEKAILQA TLREEKKLRV ENAKLKKEIE
61 ELKQELIQAE IQNGVKQIPF PSGTPLHANS MVSENVIQST AVTTVSSGTK EQIKGGTGDE
121 KKAKEKIEKK GEKKEKKQQS IAGSADSKPI DVSRLDLRIG CIITARKHPD ADSLYVEEVD
181 VGEIAPRTVV SGLVNHVPLE QMQNRMVILL CNLKPAKMRG VLSQAMVMCA SSPEKIEILA
241 PPNGSVPGDR ITFDAFPGEP DKELNPKKKI WEQIQPDLHT NDECVATYKG VPFEVKGKGV
301 CRAQTMSNSG IKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AIMP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 73 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 73 nTPM
- bone marrow: 70 nTPM
- tongue: 60 nTPM
- rectum: 52 nTPM
- breast: 52 nTPM
- thyroid gland: 49 nTPM
Single-cell type
- esophageal suprabasal cells: 244 nCPM
- esophageal apical cells: 209 nCPM
- cardiomyocytes: 204 nCPM
- esophageal basal cells: 204 nCPM
- extravillous trophoblasts: 197 nCPM
- endometrial glandular cells: 193 nCPM
Immune cell
- T-reg: 84 nTPM
- non-classical monocyte: 83 nTPM
- plasmacytoid DC: 81 nTPM
- intermediate monocyte: 71 nTPM
- basophil: 68 nTPM
- myeloid DC: 67 nTPM
Brain region
- white matter: 34 nTPM
- cerebellum: 33 nTPM
- medulla oblongata: 31 nTPM
- basal ganglia: 30 nTPM
- cerebral cortex: 30 nTPM
- midbrain: 30 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AIMP1.
Disease | AllUniProt
Conditions AIMP1 is implicated in, by any mechanism.
- Leukodystrophy, hypomyelinating, 3 (HLD3) MIM:260600
Disease | GeneticClinVar
21 pathogenic / likely-pathogenic of 166 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypomyelinating leukodystrophy 3
- AIMP1-related disorder
- Hypotonia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.21
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- apoptotic process
- cell-cell signaling
- defense response to virus
- inflammatory response
- leukocyte migration
- negative regulation of endothelial cell proliferation
- positive regulation of glucagon secretion
- translation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AIMP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AIMP1 as an antibody target. Whether an autoantibody or antibody against AIMP1 could matter depends on whether native AIMP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AIMP1 is annotated as secreted, so native AIMP1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label AIMP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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