NRF1
nuclear respiratory factor 1
Summary
This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6961102 | 7:129,249,773 | T/G | coding sequence variant | — |
| rs6968168 | 7:129,277,714 | G/T | — | — |
| rs7788849 | 7:129,281,919 | C/A | intron variant | — |
| rs1244191022 | 7:129,297,246 | G/T | — | uncertain significance |
| rs143882672 | 7:129,297,323 | G/A | — | benign |
| rs7789516 | 7:129,303,373 | T/G | — | — |
| rs146404476 | 7:129,311,285 | C/T | — | benign |
| rs9641855 | 7:129,356,206 | G/A | intron variant | — |
| rs779076542 | 7:129,357,067 | A/C | — | uncertain significance |
| rs2535742995 | 7:129,357,200 | A/G | — | uncertain significance |
| rs17556694 | 7:129,357,830 | G/T | intron variant | — |
| rs149764867 | 7:129,367,090 | C/T | — | benign |
| rs1803472021 | 7:129,367,163 | G/A | — | uncertain significance |
| rs368702964 | 7:129,367,175 | G/A | — | uncertain significance |
| rs11557288 | 7:129,396,174 | C/T | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.