ACY1
aminoacylase 1
Summary
This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]
Known Variants137 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs953420417 | 3:52,018,099 | G/C | — | uncertain significance |
| rs376811350 | 3:52,018,116 | G/C | — | likely benign |
| rs200012512 | 3:52,018,128 | C/T | — | likely benign |
| rs749167670 | 3:52,018,129 | C/T | — | uncertain significance |
| rs1048430125 | 3:52,018,130 | G/T | — | uncertain significance |
| rs200895743 | 3:52,018,138 | C/G | — | uncertain significance |
| rs34017492 | 3:52,018,149 | C/G | — | likely benign |
| rs1257148621 | 3:52,018,150 | A/G | — | uncertain significance |
| rs112396905 | 3:52,018,184 | C/T | — | benign |
| rs745456534 | 3:52,018,185 | G/A | — | uncertain significance |
| rs1559778946 | 3:52,019,212 | T/G | — | uncertain significance |
| rs763119432 | 3:52,019,234 | G/T | — | uncertain significance |
| rs773804575 | 3:52,019,255 | C/T | — | uncertain significance |
| rs199711070 | 3:52,019,263 | G/C | — | benign |
| rs1368307429 | 3:52,019,376 | G/A | — | likely pathogenic |
| rs775907661 | 3:52,019,400 | C/T | — | likely benign |
| rs202206383 | 3:52,019,401 | G/C | — | likely benign |
| rs774953551 | 3:52,019,404 | T/C | — | likely benign |
| rs547722934 | 3:52,019,459 | C/T | — | benign |
| rs2471386167 | 3:52,019,479 | A/C | — | uncertain significance |
| rs371375777 | 3:52,019,883 | G/A | — | uncertain significance |
| rs1300042641 | 3:52,019,902 | A/G | — | uncertain significance |
| rs201048015 | 3:52,019,910 | G/C | — | uncertain significance |
| rs2471387947 | 3:52,019,912 | G/A | — | likely benign |
| rs2106832799 | 3:52,019,915 | C/G | — | likely benign |
| rs1701038338 | 3:52,019,921 | C/T | — | likely benign |
| rs139537461 | 3:52,019,928 | A/G | — | uncertain significance |
| rs149475049 | 3:52,019,935 | C/T | — | conflicting classifications of pathogenicity |
| rs371565753 | 3:52,019,952 | G/A | — | likely benign |
| rs763793253 | 3:52,019,956 | G/C | — | uncertain significance |
| rs2471388373 | 3:52,019,973 | T/C | — | likely benign |
| rs672601330 | 3:52,020,270 | G/A | splice region variant | pathogenic |
| rs1701051683 | 3:52,020,271 | G/T | — | uncertain significance |
| rs376332074 | 3:52,020,311 | C/T | — | conflicting classifications of pathogenicity |
| rs2106834388 | 3:52,020,326 | A/G | — | uncertain significance |
| rs2471390290 | 3:52,020,334 | G/C | — | uncertain significance |
| rs1577727472 | 3:52,020,347 | G/T | — | uncertain significance |
| rs323893 | 3:52,020,411 | C/T | — | benign |
| rs757575874 | 3:52,020,412 | G/A | — | conflicting classifications of pathogenicity |
| rs1385904500 | 3:52,020,436 | G/A | — | likely benign |
| rs2471391027 | 3:52,020,449 | A/G | — | uncertain significance |
| rs572776317 | 3:52,020,459 | G/A | — | uncertain significance |
| rs539819737 | 3:52,020,460 | G/A | — | uncertain significance |
| rs1439697052 | 3:52,020,464 | T/C | — | uncertain significance |
| rs745793135 | 3:52,020,468 | C/T | — | uncertain significance |
| rs553270370 | 3:52,020,469 | G/A | — | uncertain significance |
| rs775409508 | 3:52,020,475 | C/G | — | uncertain significance |
| rs202098129 | 3:52,020,476 | G/A | — | uncertain significance |
| rs942390087 | 3:52,020,489 | C/T | — | likely benign |
| rs200314495 | 3:52,020,515 | A/G | — | uncertain significance |
| rs1288333115 | 3:52,020,517 | G/A | — | uncertain significance |
| rs887541 | 3:52,020,604 | C/A | — | benign |
| rs887540 | 3:52,020,630 | A/G | — | likely benign |
| rs185086428 | 3:52,020,631 | T/C | — | benign |
| rs748268468 | 3:52,020,665 | C/T | — | uncertain significance |
| rs760823696 | 3:52,020,691 | T/A | — | likely benign |
| rs1407382316 | 3:52,020,988 | C/T | — | likely benign |
| rs121912700 | 3:52,021,009 | C/T | missense variant | pathogenic |
| rs1577728983 | 3:52,021,017 | C/A | — | likely benign |
| rs2106837287 | 3:52,021,044 | A/G | — | likely benign |
| rs140738368 | 3:52,021,045 | C/T | — | uncertain significance |
| rs772917167 | 3:52,021,046 | G/A | — | uncertain significance |
| rs781228430 | 3:52,021,081 | C/T | — | uncertain significance |
| rs554899244 | 3:52,021,089 | C/T | — | benign |
| rs323894 | 3:52,021,092 | A/G | — | benign |
| rs1004697756 | 3:52,021,159 | A/C | — | likely benign |
| rs992797800 | 3:52,021,194 | G/A | — | uncertain significance |
| rs1270297881 | 3:52,021,198 | G/A | — | likely benign |
| rs121912699 | 3:52,021,204 | A/C | missense variant | pathogenic |
| rs142558042 | 3:52,021,222 | C/A | — | likely benign |
| rs1701099833 | 3:52,021,227 | G/A | — | likely benign |
| rs200262033 | 3:52,021,308 | C/T | — | benign |
| rs323895 | 3:52,021,316 | A/G | — | benign |
| rs1701104578 | 3:52,021,318 | A/T | — | likely benign |
| rs2106838452 | 3:52,021,349 | A/G | — | likely benign |
| rs748602399 | 3:52,021,358 | C/T | — | likely benign |
| rs780541505 | 3:52,021,367 | C/T | — | likely benign |
| rs200799186 | 3:52,021,394 | C/T | — | likely benign |
| rs760789730 | 3:52,021,413 | C/A | — | uncertain significance |
| rs201775925 | 3:52,021,422 | A/G | — | conflicting classifications of pathogenicity |
| rs765511074 | 3:52,021,428 | G/A | — | uncertain significance |
| rs199947344 | 3:52,021,453 | C/T | — | uncertain significance |
| rs771901106 | 3:52,021,454 | G/A | — | likely benign |
| rs1479626589 | 3:52,021,456 | A/C | — | uncertain significance |
| rs373059437 | 3:52,021,555 | C/T | — | likely benign |
| rs764452114 | 3:52,021,556 | G/A | — | likely benign |
| rs757825436 | 3:52,021,565 | C/G | — | likely benign |
| rs202245244 | 3:52,021,590 | C/G | — | uncertain significance |
| rs773211477 | 3:52,021,613 | C/T | — | likely benign |
| rs201547992 | 3:52,021,614 | G/A | — | likely benign |
| rs1489216585 | 3:52,021,638 | C/T | — | pathogenic |
| rs891166942 | 3:52,021,644 | T/G | — | uncertain significance |
| rs1701122828 | 3:52,021,661 | A/T | — | uncertain significance |
| rs1054983196 | 3:52,022,535 | C/T | — | likely benign |
| rs781222137 | 3:52,022,553 | C/T | — | uncertain significance |
| rs1033344901 | 3:52,022,579 | A/G | — | uncertain significance |
| rs2471401082 | 3:52,022,595 | C/G | — | uncertain significance |
| rs200685202 | 3:52,022,604 | G/A | — | uncertain significance |
| rs996051231 | 3:52,022,609 | T/C | — | uncertain significance |
| rs767883181 | 3:52,022,618 | A/T | — | uncertain significance |
Showing 100 of 137 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.