Description: Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA. RefSeq Summary (NM_005011): 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]. Transcript (Including UTRs) Position: hg19 chr7:129,251,555-129,396,922 Size: 145,368 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr7:129,297,192-129,395,021 Size: 97,830 Coding Exon Count: 10
ID:NRF1_HUMAN DESCRIPTION: RecName: Full=Nuclear respiratory factor 1; Short=NRF-1; AltName: Full=Alpha palindromic-binding protein; Short=Alpha-pal; FUNCTION: Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. SUBUNIT: Homodimer. Binds DNA as a dimer. Interacts with PPRC1. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitously expressed with strongest expression in skeletal muscle. PTM: Phosphorylation enhances DNA binding. SIMILARITY: Belongs to the NRF1/Ewg family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NRF1ID44233ch7q32.html";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NRF1 CDC HuGE Published Literature: NRF1 Positive Disease Associations: diabetes, type 2 Related Studies:
diabetes, type 2 Cho, Y. M. et al. 2005, Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population., Diabetologia. 2005 Oct;48(10):2033-8.
[PubMed 16082529]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10491 - NLS-binding and DNA-binding and dimerisation domains of Nrf1 PF10492 - Nrf1 activator activation site binding domain
ModBase Predicted Comparative 3D Structure on Q16656
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0005515 protein binding GO:0042803 protein homodimerization activity
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007005 mitochondrion organization GO:0045944 positive regulation of transcription from RNA polymerase II promoter
US Server
