AIMP1
aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Summary
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]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3762946 | 4:107,235,939 | G/C | — | — |
| rs6814166 | 4:107,237,395 | C/T | — | benign |
| rs72878559 | 4:107,237,488 | C/T | — | benign |
| rs1001991896 | 4:107,237,705 | A/G | — | uncertain significance |
| rs1252799095 | 4:107,237,707 | G/C | — | uncertain significance |
| rs1471885758 | 4:107,237,743 | C/T | — | likely benign |
| rs62318117 | 4:107,238,015 | G/A | — | benign |
| rs3737498 | 4:107,246,136 | C/A | — | benign |
| rs752918048 | 4:107,246,176 | A/G | — | uncertain significance |
| rs11544777 | 4:107,246,190 | G/C | — | benign |
| rs1003338857 | 4:107,246,207 | A/G | — | uncertain significance |
| rs2476178965 | 4:107,246,233 | G/C | — | uncertain significance |
| rs369984537 | 4:107,246,235 | A/C | — | uncertain significance |
| rs369840696 | 4:107,246,237 | A/T | — | uncertain significance |
| rs2125920882 | 4:107,246,248 | C/T | — | pathogenic |
| rs1442258929 | 4:107,246,262 | T/C | — | likely benign |
| rs724159969 | 4:107,248,613 | C/T | stop gained | pathogenic |
| rs2476185444 | 4:107,248,619 | A/G | — | uncertain significance |
| rs772602828 | 4:107,248,623 | T/C | — | uncertain significance |
| rs373122636 | 4:107,248,643 | C/T | — | pathogenic |
| rs747675209 | 4:107,248,644 | G/A | — | uncertain significance |
| rs1218316156 | 4:107,248,665 | A/G | — | uncertain significance |
| rs552434668 | 4:107,248,710 | T/A | — | uncertain significance |
| rs569235371 | 4:107,248,721 | G/A | — | uncertain significance |
| rs913064158 | 4:107,248,722 | G/A | — | likely pathogenic |
| rs3792718 | 4:107,248,890 | T/C | — | benign |
| rs1438896600 | 4:107,249,218 | C/T | — | likely benign |
| rs1134648 | 4:107,249,244 | C/G | — | benign |
| rs749204548 | 4:107,249,257 | G/A | — | uncertain significance |
| rs181917989 | 4:107,249,270 | C/T | — | likely benign |
| rs760544963 | 4:107,249,271 | G/A | — | uncertain significance |
| rs202131629 | 4:107,249,275 | A/G | — | uncertain significance |
| rs770399051 | 4:107,249,280 | A/G | — | conflicting classifications of pathogenicity |
| rs752054346 | 4:107,249,281 | T/C | — | likely benign |
| rs778703221 | 4:107,249,308 | C/T | — | uncertain significance |
| rs745521386 | 4:107,249,309 | A/G | — | likely benign |
| rs151123024 | 4:107,249,318 | A/C | — | benign |
| rs113844295 | 4:107,249,319 | A/G | — | likely benign |
| rs201162461 | 4:107,249,321 | C/T | — | likely benign |
| rs956742218 | 4:107,249,322 | G/A | — | uncertain significance |
| rs184999759 | 4:107,249,332 | G/C | — | uncertain significance |
| rs879253867 | 4:107,249,343 | C/T | stop gained | pathogenic |
| rs2230255 | 4:107,249,358 | A/G | — | benign |
| rs146841053 | 4:107,249,366 | C/T | — | likely benign |
| rs367813302 | 4:107,249,368 | A/G | — | uncertain significance |
| rs143898497 | 4:107,249,372 | G/T | — | uncertain significance |
| rs915912094 | 4:107,249,420 | A/G | — | likely benign |
| rs372933784 | 4:107,252,829 | G/A | — | uncertain significance |
| rs777733916 | 4:107,252,869 | T/A | — | uncertain significance |
| rs771106933 | 4:107,252,872 | C/T | — | likely benign |
| rs528926697 | 4:107,252,873 | G/A | — | uncertain significance |
| rs762369579 | 4:107,252,896 | C/A | — | likely benign |
| rs765922436 | 4:107,252,897 | C/T | — | uncertain significance |
| rs202139899 | 4:107,252,898 | G/A | — | uncertain significance |
| rs367982035 | 4:107,252,915 | G/C | — | uncertain significance |
| rs2476199781 | 4:107,252,916 | G/A | — | uncertain significance |
| rs749252001 | 4:107,252,925 | T/A | — | uncertain significance |
| rs149144042 | 4:107,252,928 | C/T | — | uncertain significance |
| rs143219988 | 4:107,252,955 | C/A | — | uncertain significance |
| rs769213770 | 4:107,252,980 | C/T | — | likely benign |
| rs148281523 | 4:107,252,981 | G/A | — | uncertain significance |
| rs1769692750 | 4:107,252,998 | G/T | — | uncertain significance |
| rs528806666 | 4:107,253,015 | T/A | — | uncertain significance |
| rs146996325 | 4:107,253,019 | G/A | — | likely benign |
| rs138106524 | 4:107,253,029 | C/T | — | conflicting classifications of pathogenicity |
| rs966632128 | 4:107,253,036 | A/G | — | uncertain significance |
| rs2476200591 | 4:107,253,043 | A/G | — | uncertain significance |
| rs3109956 | 4:107,253,063 | C/T | — | benign |
| rs3737497 | 4:107,257,975 | A/T | — | benign |
| rs537063809 | 4:107,258,016 | T/C | — | likely benign |
| rs143586104 | 4:107,258,058 | C/T | — | likely benign |
| rs2125926177 | 4:107,258,080 | G/A | — | uncertain significance |
| rs1031257695 | 4:107,258,092 | C/T | — | pathogenic |
| rs2476213351 | 4:107,258,093 | A/G | — | uncertain significance |
| rs201023640 | 4:107,258,129 | T/C | — | conflicting classifications of pathogenicity |
| rs1329842483 | 4:107,258,138 | T/C | — | uncertain significance |
| rs749460581 | 4:107,258,149 | A/G | — | uncertain significance |
| rs2125926226 | 4:107,258,191 | C/G | — | uncertain significance |
| rs3109954 | 4:107,258,227 | C/T | — | benign |
| rs3737495 | 4:107,258,228 | A/G | — | benign |
| rs77408017 | 4:107,268,488 | C/A | — | benign |
| rs372542318 | 4:107,268,681 | A/C | — | uncertain significance |
| rs779445809 | 4:107,268,708 | T/C | — | likely benign |
| rs776283445 | 4:107,268,720 | T/G | — | uncertain significance |
| rs2476241918 | 4:107,268,743 | T/A | — | uncertain significance |
| rs2476241942 | 4:107,268,746 | A/T | — | uncertain significance |
| rs752913289 | 4:107,268,785 | C/T | — | uncertain significance |
| rs147167431 | 4:107,268,793 | G/A | — | uncertain significance |
| rs1387433808 | 4:107,268,797 | A/G | — | uncertain significance |
| rs1344482241 | 4:107,268,814 | A/G | — | not provided |
| rs138429424 | 4:107,268,844 | A/C | — | uncertain significance |
| rs3805410 | 4:107,268,949 | A/G | — | benign |
| rs3805411 | 4:107,269,053 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.