AIMP1 Chromosome 4
Aminoacyl tRNA synthetase complex interacting multifunctional protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetase complex interacting multifunctional proteins
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000164022
Associated Conditions (4)
Inborn genetic diseases
AIMP1-related disorder
Hypotonia
Hypomyelinating leukodystrophy 3
Key Variants
RS138106524
Conflicting classifications of pathogenicity
Health Risk
RS201023640
Conflicting classifications of pathogenicity
Inborn genetic diseases, AIMP1-related disorder, Inborn genetic diseases
Health Risk
RS770399051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1287521576
Likely pathogenic
AIMP1-related disorder, AIMP1-related disorder
Health Risk
RS913064158
Likely pathogenic
Health Risk
RS1031257695
Pathogenic
Health Risk
RS2125920882
Pathogenic
Hypotonia, Hypotonia
Health Risk
RS2125926196
Pathogenic
Health Risk
RS2476179011
Pathogenic
Health Risk
RS2476179074
Pathogenic
Health Risk
RS2476199260
Pathogenic
Health Risk
RS373122636
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138106524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201023640 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, AIMP1-related disorder, Inborn genetic diseases |
| RS770399051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1287521576 | Health Risk | Likely pathogenic | AIMP1-related disorder, AIMP1-related disorder |
| RS913064158 | Health Risk | Likely pathogenic | — |
| RS1031257695 | Health Risk | Pathogenic | — |
| RS2125920882 | Health Risk | Pathogenic | Hypotonia, Hypotonia |
| RS2125926196 | Health Risk | Pathogenic | — |
| RS2476179011 | Health Risk | Pathogenic | — |
| RS2476179074 | Health Risk | Pathogenic | — |
| RS2476199260 | Health Risk | Pathogenic | — |
| RS373122636 | Health Risk | Pathogenic | — |
| RS387906865 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3 |
| RS750731609 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 3, AIMP1-related disorder, Hypomyelinating leukodystrophy 3 |
| RS766457850 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3 |
| RS879253867 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3 |
| RS1057520101 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS724159969 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 3, AIMP1-related disorder, Hypomyelinating leukodystrophy 3 |