NRF1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | NRF1 |
| Official Name | nuclear respiratory factor 1 [Source:HGNC Symbol;Acc:HGNC:7996] |
| Ensembl ID | ENSG00000106459 |
| Bio databases IDs | |
| Aliases | nuclear respiratory factor 1, alpha palindromic-binding protein |
| Synonyms | ALPHA-PAL, C87038, D6Ertd415e, Nfe2l1 retired, nuclear respiratory factor 1, RGD:1303265, α-PAL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NRF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- transcription regulator
- DNA binding domain
- nucleic acid binding
- nuclear localization sequence
- transcription activation domain
- protein binding
- sequence-specific DNA binding
- Protein of unknown function (DUF933)
- double-stranded DNA binding
- Ubl1_cv_Nsp3_N-like
- ubiquitin-protein transferase activity
- NLS-binding and DNA-binding and dimerization domains of Nrf1
- serine phosphorylation site
- protein homodimerization
- transcription factor activity
Pathways
Biological processes and signaling networks where the NRF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- metastasis
- organismal death
- insomnia
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- COVID-19
- Huntington disease
role in cell
- quantity
- proliferation
- outgrowth
- expression in
- migration
- cell death
- apoptosis
- invasion by
- transactivation in
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NRF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity