CYP1A1
cytochrome P450 family 1 subfamily A member 1
Summary
This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1800031 | 15:74,719,894 | A/G | 3 prime UTR variant | — |
| rs28399430 | 15:74,720,553 | G/C | missense variant | — |
| rs56240201 | 15:74,720,599 | G/A | missense variant | likely benign |
| rs41279188 | 15:74,720,638 | G/A | missense variant | benign |
| rs72547509 | 15:74,720,685 | A/T | missense variant | — |
| rs72547510 | 15:74,720,752 | C/CA | frameshift variant | — |
| rs768212140 | 15:74,721,236 | G/A | stop gained | — |
| rs56313657 | 15:74,721,463 | C/A | missense variant | — |
| rs143070677 | 15:74,722,914 | C/G | missense variant | — |
| rs4646903 | 15:75,011,641 | A/G | downstream gene variant | — |
| rs4986883 | 15:75,012,217 | T/C | 3 prime UTR variant | — |
| rs56343424 | 15:75,012,837 | C/A | — | benign |
| rs45460597 | 15:75,012,896 | G/A | — | benign |
| rs749223641 | 15:75,012,913 | C/T | — | uncertain significance |
| rs28399429 | 15:75,012,925 | C/T | — | benign |
| rs1330666981 | 15:75,012,927 | C/G | — | uncertain significance |
| rs2505523092 | 15:75,012,931 | A/G | — | uncertain significance |
| rs1048943 | 15:75,012,985 | T/C | missense variant | benign |
| rs1799814 | 15:75,012,987 | G/T | missense variant | benign |
| rs147033233 | 15:75,012,995 | G/A | — | likely benign |
| rs763427692 | 15:75,013,012 | C/G | — | uncertain significance |
| rs145198866 | 15:75,013,051 | T/C | — | likely benign |
| rs770191780 | 15:75,013,078 | G/A | — | uncertain significance |
| rs1379156959 | 15:75,013,313 | A/T | — | uncertain significance |
| rs750520977 | 15:75,013,344 | C/T | — | uncertain significance |
| rs1008131147 | 15:75,013,363 | A/G | — | uncertain significance |
| rs1349977436 | 15:75,013,367 | G/C | — | likely benign |
| rs748507253 | 15:75,013,394 | G/C | — | uncertain significance |
| rs1567195814 | 15:75,013,544 | G/A | — | uncertain significance |
| rs778494829 | 15:75,013,558 | G/T | — | uncertain significance |
| rs753298761 | 15:75,013,642 | C/T | — | uncertain significance |
| rs2505525921 | 15:75,013,787 | G/T | — | uncertain significance |
| rs4987133 | 15:75,014,027 | A/G | — | likely benign |
| rs755815189 | 15:75,014,033 | C/T | — | uncertain significance |
| rs150514993 | 15:75,014,646 | T/C | — | uncertain significance |
| rs61747605 | 15:75,014,727 | G/A | — | benign |
| rs2063178515 | 15:75,014,765 | C/T | — | uncertain significance |
| rs373858916 | 15:75,014,766 | C/T | — | uncertain significance |
| rs577523247 | 15:75,014,799 | G/C | — | uncertain significance |
| rs140459785 | 15:75,014,884 | G/T | — | uncertain significance |
| rs2505529013 | 15:75,014,891 | T/C | — | uncertain significance |
| rs150427960 | 15:75,014,920 | C/T | — | likely benign |
| rs763346193 | 15:75,015,062 | T/C | — | uncertain significance |
| rs745879982 | 15:75,015,124 | G/T | — | likely benign |
| rs45528935 | 15:75,015,161 | C/T | — | likely benign |
| rs17861094 | 15:75,015,206 | A/G | — | benign |
| rs578251068 | 15:75,015,262 | C/T | — | likely benign |
| rs4646422 | 15:75,015,305 | C/T | missense variant | benign |
| rs4646421 | 15:75,016,192 | G/T | — | — |
| rs2606345 | 15:75,017,176 | C/A | intron variant | — |
| rs2470893 | 15:75,019,449 | C/T | upstream gene variant | — |
| rs2472297 | 15:75,027,880 | C/T | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.