NFX1
nuclear transcription factor, X-box binding 1
Summary
MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778619591 | 9:33,290,586 | C/A | — | uncertain significance |
| rs758263494 | 9:33,294,353 | G/A | — | — |
| rs889379381 | 9:33,294,426 | A/G | — | uncertain significance |
| rs1257577515 | 9:33,294,452 | C/G | — | uncertain significance |
| rs773005352 | 9:33,294,526 | G/C | — | uncertain significance |
| rs760726943 | 9:33,294,532 | A/C | — | uncertain significance |
| rs150330215 | 9:33,294,544 | C/T | — | uncertain significance |
| rs200408791 | 9:33,294,549 | C/T | — | uncertain significance |
| rs779078004 | 9:33,294,594 | G/C | — | uncertain significance |
| rs752376581 | 9:33,294,616 | C/T | — | uncertain significance |
| rs138032838 | 9:33,294,636 | A/C | — | uncertain significance |
| rs780568457 | 9:33,294,646 | C/T | — | uncertain significance |
| rs371851347 | 9:33,294,742 | G/C | — | uncertain significance |
| rs2489381360 | 9:33,295,215 | A/G | — | uncertain significance |
| rs150843879 | 9:33,295,288 | A/G | — | uncertain significance |
| rs139634183 | 9:33,295,316 | G/C | — | uncertain significance |
| rs751297808 | 9:33,295,344 | C/T | — | uncertain significance |
| rs747333586 | 9:33,295,398 | G/A | — | uncertain significance |
| rs1251218008 | 9:33,295,410 | G/T | — | uncertain significance |
| rs754893922 | 9:33,301,385 | A/G | — | uncertain significance |
| rs755133879 | 9:33,303,234 | C/T | — | uncertain significance |
| rs2489419691 | 9:33,307,258 | A/G | — | likely benign |
| rs1418510591 | 9:33,307,262 | A/T | — | uncertain significance |
| rs1821944589 | 9:33,311,132 | T/A | — | uncertain significance |
| rs200530506 | 9:33,313,688 | C/G | — | uncertain significance |
| rs2489455366 | 9:33,313,714 | T/G | — | uncertain significance |
| rs753713076 | 9:33,313,785 | A/T | — | uncertain significance |
| rs831277 | 9:33,314,973 | A/T | intron variant | — |
| rs561244559 | 9:33,318,750 | C/T | — | uncertain significance |
| rs755723817 | 9:33,318,773 | G/A | — | uncertain significance |
| rs144522602 | 9:33,318,778 | A/G | — | likely benign |
| rs2489487077 | 9:33,319,018 | C/T | — | uncertain significance |
| rs34444364 | 9:33,319,045 | G/A | — | uncertain significance |
| rs142903858 | 9:33,319,114 | G/A | — | uncertain significance |
| rs62542724 | 9:33,324,542 | T/G | intron variant | — |
| rs2489536686 | 9:33,328,617 | G/A | — | uncertain significance |
| rs186044438 | 9:33,338,558 | C/T | — | uncertain significance |
| rs199550083 | 9:33,342,822 | C/T | — | uncertain significance |
| rs758784376 | 9:33,347,036 | T/C | — | uncertain significance |
| rs750794308 | 9:33,351,561 | C/T | — | uncertain significance |
| rs75231196 | 9:33,351,709 | C/G | — | uncertain significance |
| rs147818472 | 9:33,352,682 | G/A | — | likely benign |
| rs143559591 | 9:33,354,178 | C/G | — | uncertain significance |
| rs1402014760 | 9:33,354,862 | G/A | — | uncertain significance |
| rs184123192 | 9:33,356,166 | A/G | upstream gene variant | — |
| rs1824118813 | 9:33,364,707 | A/G | — | uncertain significance |
| rs745401977 | 9:33,366,642 | A/C | — | uncertain significance |
| rs372928232 | 9:33,366,747 | C/G | — | uncertain significance |
| rs374711006 | 9:33,366,751 | A/G | — | uncertain significance |
| rs144787339 | 9:33,367,523 | G/A | — | likely benign |
| rs1363993910 | 9:33,369,921 | A/G | — | uncertain significance |
| rs1011034289 | 9:33,369,941 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.