ACSL1
acyl-CoA synthetase long chain family member 1
Summary
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs534896186 | 4:185,678,332 | G/A | — | uncertain significance |
| rs1561166677 | 4:185,678,821 | C/G | — | uncertain significance |
| rs74654630 | 4:185,678,840 | G/A | — | benign |
| rs749141092 | 4:185,679,011 | C/T | — | uncertain significance |
| rs13137387 | 4:185,680,566 | G/A | intron variant | — |
| rs1159890626 | 4:185,681,567 | T/C | — | uncertain significance |
| rs756983203 | 4:185,681,575 | A/G | — | uncertain significance |
| rs1164463663 | 4:185,681,587 | G/A | — | uncertain significance |
| rs1168499019 | 4:185,681,591 | T/C | — | uncertain significance |
| rs41278585 | 4:185,684,324 | G/A | — | benign |
| rs1052274686 | 4:185,684,398 | C/T | — | uncertain significance |
| rs370966189 | 4:185,686,010 | C/T | — | uncertain significance |
| rs1579839773 | 4:185,686,051 | C/T | — | uncertain significance |
| rs1245395165 | 4:185,687,061 | G/A | — | uncertain significance |
| rs1371276860 | 4:185,687,073 | G/A | — | uncertain significance |
| rs1267686403 | 4:185,687,101 | C/T | — | uncertain significance |
| rs2531462613 | 4:185,687,814 | T/G | — | uncertain significance |
| rs200742124 | 4:185,689,471 | C/T | — | uncertain significance |
| rs4862417 | 4:185,690,601 | A/G | intron variant | — |
| rs2531531588 | 4:185,691,557 | A/G | — | uncertain significance |
| rs745865004 | 4:185,694,273 | T/C | — | likely benign |
| rs776443640 | 4:185,694,278 | C/T | — | likely benign |
| rs751319076 | 4:185,695,017 | C/T | — | uncertain significance |
| rs2531624940 | 4:185,697,677 | C/G | — | uncertain significance |
| rs141068555 | 4:185,697,684 | C/T | — | uncertain significance |
| rs569889960 | 4:185,697,702 | C/A | — | uncertain significance |
| rs112358311 | 4:185,697,767 | T/C | — | benign |
| rs145945378 | 4:185,698,092 | C/T | — | uncertain significance |
| rs138396875 | 4:185,698,094 | A/C | — | uncertain significance |
| rs72695640 | 4:185,699,918 | T/C | intron variant | — |
| rs2531687206 | 4:185,701,529 | G/A | — | uncertain significance |
| rs1766042329 | 4:185,701,533 | T/C | — | likely benign |
| rs549468487 | 4:185,709,863 | G/C | — | uncertain significance |
| rs72695645 | 4:185,713,608 | G/C | — | — |
| rs72695652 | 4:185,715,901 | A/G | downstream gene variant | — |
| rs55881843 | 4:185,716,090 | G/A | downstream gene variant | — |
| rs55691245 | 4:185,716,100 | G/A | downstream gene variant | — |
| rs735949 | 4:185,716,232 | T/C | downstream gene variant | — |
| rs72695658 | 4:185,716,937 | T/C | downstream gene variant | — |
| rs58730668 | 4:185,717,759 | T/C | downstream gene variant | — |
| rs72695665 | 4:185,718,300 | A/C | downstream gene variant | — |
| rs1270771486 | 4:185,724,521 | G/C | — | likely benign |
| rs145248794 | 4:185,724,537 | G/A | — | likely benign |
| rs371273676 | 4:185,724,592 | G/A | — | uncertain significance |
| rs1054480669 | 4:185,724,602 | G/T | — | uncertain significance |
| rs745309467 | 4:185,724,605 | C/T | — | uncertain significance |
| rs6552828 | 4:185,725,416 | A/G | intron variant | — |
| rs56376363 | 4:185,726,914 | T/C | regulatory region variant | — |
| rs12499544 | 4:185,727,839 | T/A | intron variant | — |
| rs13120078 | 4:185,731,442 | G/C | — | — |
| rs9997745 | 4:185,737,843 | G/A | intron variant | — |
| rs12503643 | 4:185,746,088 | G/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.