NFE2L1 Gene Summary [Human]
This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NFE2L1 |
| Official Name | nuclear factor, erythroid 2 like 1 [Source:HGNC Symbol;Acc:HGNC:7781] |
| Ensembl ID | ENSG00000082641 |
| Bio databases IDs | |
| Aliases | nuclear factor, erythroid 2 like 1, NFE2 like bZIP transcription factor 1, nuclear factor erythroid 2-related factor 1, locus control region-factor 1, transcription factor 11 |
| Synonyms | HBZ17, LCR-F1, NFE2 like bZIP transcription factor 1, NRF-1, Nuclear factor erythroid derivative 2a, nuclear factor, erythroid derived 2,-like 1, TCF-11 |
| 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 NFE2L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- chromatin binding
- identical protein binding
- bZIP domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- serine-rich region
- ETGE motif
- bZIP
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- cholesterol binding
- DNA binding domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- Basic region leucine zipper
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- acidic domain
- DLG motif
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- binding protein
- double-stranded DNA binding
- transcription factor activity
- protein heterodimerization
- basic region leucin zipper
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- growth failure
- liver cancer
- steatohepatitis
- Parkinson disease
- anemia
- neurodegeneration
- skin squamous cell carcinoma
- squamous cell skin cancer
regulates
- reactive oxygen species
- lipid
- reporter gene
- synthetic promoter
- D-glucose
- DNA promoter
- DNA endogenous promoter
- thymidine kinase
- NQO1
- Cytochrome bc1
role in cell
- expression in
- activation in
- mitosis
- cell viability
- apoptosis
- differentiation
- number
- organization
- response by
- transcription in
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
- Cytoplasm
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFE2L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heme biosynthetic process
- cholesterol metabolic process
- anatomical structure morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- identical protein binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- lipid binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity