NRF1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| nuclear respiratory factor 1 | MIM:600879 | Ensembl:ENSG00000106459 | HGNC:HGNC:7996 | PA31775 | 7q32.2 |
GO terms in NRF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006091 | generation of precursor metabolites and energy |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0007005 | mitochondrion organization |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| CC | IBA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IBA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0001046 | core promoter sequence-specific DNA binding |
| MF | ISS | GO:0001046 | core promoter sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IMP | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0042803 | protein homodimerization activity |
Gene expression in normal tissue: NRF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NRF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1592230 | Mitochondrial biogenesis |
| reactome | R-HSA-1592230 | Mitochondrial biogenesis |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-1989781 | PPARA activates gene expression |
| reactome | R-HSA-2151201 | Transcriptional activation of mitochondrial biogenesis |
| reactome | R-HSA-2151201 | Transcriptional activation of mitochondrial biogenesis |
| reactome | R-HSA-400206 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
| reactome | R-HSA-556833 | Metabolism of lipids |
| kegg | hsa04371 | Apelin signaling pathway - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
| wikipathways | WP1541 | Energy Metabolism |
| wikipathways | WP3331 | Mitochondrial biogenesis |
| wikipathways | WP3670 | Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway |
| wikipathways | WP391 | Mitochondrial Gene Expression |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NRF1
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