AIMP1 (Aminoacyl tRNA Synthetase Complex Interacting Multifunctional Protein 1)
A multifunctional protein involved in tRNA aminoacylation, cytokine signaling, and angiogenesis; associated with hypomyelinating leukodystrophy and cancer.
Gene Information Card
| Symbol | AIMP1 |
|---|---|
| Full Name | Aminoacyl tRNA Synthetase Complex Interacting Multifunctional Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 9255 ncbi.nlm.nih.gov/gene/9255 |
| Ensembl ID | ENSG00000164022 |
| UniProt ID | Q12904 |
| OMIM ID | 603605 |
| HGNC ID | 10648 |
| Aliases | p43, EMAP2, SCYE1, JTV1 |
Description
AIMP1 encodes a multifunctional protein that is a component of the multisynthetase complex (MSC) involved in tRNA aminoacylation. It also acts as a cytokine (EMAP II) with proinflammatory and angiostatic properties, and plays roles in cell migration, apoptosis, and neural development. Mutations in AIMP1 cause hypomyelinating leukodystrophy-3 (HLD3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 3 (HLD3) | Loss-of-function mutations impair MSC assembly and tRNA charging, leading to defective myelination | OMIM #260600; multiple homozygous mutations reported |
| Colorectal cancer | AIMP1 overexpression promotes angiogenesis and tumor growth via EMAP II signaling | PubMed studies; COSMIC somatic mutations |
| Hepatocellular carcinoma | AIMP1 downregulation correlates with poor prognosis and altered cytokine activity | ClinVar; expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 15.1 | Medium |
| Heart | 6.7 | Low |
| Kidney | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| A549 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; loss of function |
| c.107T>C (p.Leu36Pro) | Missense | Rare | Disrupts MSC interaction; HLD3 |
| c.335G>A (p.Arg112Gln) | Missense | Rare | Reduced protein stability; HLD3 |
| c.458C>T (p.Pro153Leu) | Missense | Rare | Impaired cytokine activity; HLD3 |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and start-loss mutations cause HLD3 via impaired MSC assembly and reduced tRNA charging.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may enhance EMAP II signaling.
Dominant Negative (DN)
Not reported for AIMP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004812 – aminoacyl-tRNA ligase activity | • GO:0005515 – protein binding |
| • GO:0005125 – cytokine activity | • GO:0005737 – cytoplasm |
| • GO:0017101 – aminoacyl-tRNA synthetase multienzyme complex | • GO:0043025 – neuronal cell body |
| • GO:0001525 – angiogenesis |
Pathways
• Aminoacyl-tRNA biosynthesis (Reactome R-HSA-379716)
• Cytokine signaling in immune system (Reactome R-HSA-1280215)
• Multisynthetase complex assembly (Reactome R-HSA-379724)
Protein Summary
AIMP1 (p43/EMAP II) is a 312-amino acid protein that serves as a scaffold within the multisynthetase complex, facilitating efficient tRNA charging. It is also secreted as a proinflammatory cytokine that induces endothelial cell migration and apoptosis. The protein contains a C-terminal EMAP II domain responsible for cytokine activity. Mutations cause hypomyelinating leukodystrophy, and dysregulation is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIMP1 Knockout HEK293 Cell Line | EDJ-KQ6524 | Human | 9255 | Details Get a Quote |
| AIMP1 Knockout A-549 Cell Line | EDJ-KQ30678 | Human | 9255 | Details Get a Quote |
| AIMP1 Knockout HCT 116 Cell Line | EDJ-KQ30679 | Human | 9255 | Details Get a Quote |
| AIMP1 Knockout HeLa Cell Line | EDJ-KQ30680 | Human | 9255 | Details Get a Quote |
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