BACH1
BTB domain and CNC homolog 1
Summary
This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747087328 | 21:30,693,683 | C/T | — | uncertain significance |
| rs529204942 | 21:30,693,704 | G/A | — | uncertain significance |
| rs746539423 | 21:30,693,782 | T/G | — | uncertain significance |
| rs187935039 | 21:30,693,791 | G/A | — | uncertain significance |
| rs142632189 | 21:30,693,812 | C/G | — | uncertain significance |
| rs1322576331 | 21:30,693,822 | C/G | — | uncertain significance |
| rs984389128 | 21:30,698,386 | G/T | — | uncertain significance |
| rs200422810 | 21:30,698,412 | G/C | — | uncertain significance |
| rs776883023 | 21:30,698,468 | A/C | — | uncertain significance |
| rs753880489 | 21:30,698,613 | A/C | — | uncertain significance |
| rs753384846 | 21:30,698,633 | G/A | — | likely benign |
| rs771150831 | 21:30,698,714 | A/G | — | uncertain significance |
| rs140102895 | 21:30,698,746 | G/T | — | uncertain significance |
| rs763472575 | 21:30,698,758 | C/G | — | uncertain significance |
| rs536766184 | 21:30,698,774 | T/C | — | uncertain significance |
| rs61735774 | 21:30,698,953 | T/G | — | likely benign |
| rs77477102 | 21:30,698,985 | C/T | — | likely benign |
| rs147272592 | 21:30,698,998 | G/A | — | uncertain significance |
| rs776674031 | 21:30,699,001 | A/G | — | uncertain significance |
| rs762633394 | 21:30,699,026 | A/T | — | uncertain significance |
| rs148287786 | 21:30,699,046 | A/G | — | uncertain significance |
| rs35474725 | 21:30,699,085 | T/C | — | benign |
| rs751284536 | 21:30,699,088 | A/G | — | uncertain significance |
| rs200472398 | 21:30,699,137 | A/G | — | uncertain significance |
| rs2088918457 | 21:30,699,166 | C/G | — | uncertain significance |
| rs1314485271 | 21:30,699,232 | G/C | — | uncertain significance |
| rs752595141 | 21:30,699,260 | A/C | — | uncertain significance |
| rs771637682 | 21:30,699,343 | G/A | — | uncertain significance |
| rs756020225 | 21:30,699,389 | A/G | — | uncertain significance |
| rs1349416910 | 21:30,699,419 | C/T | — | uncertain significance |
| rs139219595 | 21:30,699,426 | G/T | — | uncertain significance |
| rs139083953 | 21:30,699,439 | C/T | — | uncertain significance |
| rs779724096 | 21:30,699,440 | G/A | — | uncertain significance |
| rs144158872 | 21:30,699,463 | A/G | — | uncertain significance |
| rs753587832 | 21:30,699,486 | A/C | — | uncertain significance |
| rs148401992 | 21:30,699,560 | G/A | — | uncertain significance |
| rs151321858 | 21:30,699,637 | A/T | — | benign |
| rs367693467 | 21:30,699,679 | A/T | — | uncertain significance |
| rs916861704 | 21:30,701,815 | T/C | — | uncertain significance |
| rs2516624525 | 21:30,701,847 | T/C | — | uncertain significance |
| rs950915119 | 21:30,701,930 | A/T | — | uncertain significance |
| rs776374291 | 21:30,701,961 | C/T | — | uncertain significance |
| rs1569017478 | 21:30,701,962 | G/A | — | uncertain significance |
| rs17744121 | 21:30,713,598 | A/G | intron variant | — |
| rs411697 | 21:30,714,598 | G/C | — | — |
| rs388707 | 21:30,714,776 | T/C | — | benign |
| rs2516642726 | 21:30,714,916 | G/A | — | uncertain significance |
| rs2516642743 | 21:30,714,932 | A/C | — | uncertain significance |
| rs751460658 | 21:30,714,966 | C/T | — | uncertain significance |
| rs906193032 | 21:30,714,967 | G/A | — | uncertain significance |
| rs754965100 | 21:30,714,975 | G/A | — | uncertain significance |
| rs538792166 | 21:30,715,000 | G/A | — | uncertain significance |
| rs544008928 | 21:30,715,023 | C/G | — | uncertain significance |
| rs780086183 | 21:30,715,085 | G/C | — | uncertain significance |
| rs372883 | 21:30,717,737 | T/C | 3 prime UTR variant | — |
| rs412662 | 21:30,721,382 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.