NRL Gene Summary [Human]
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NRL |
| Official Name | neural retina leucine zipper [Source:HGNC Symbol;Acc:HGNC:8002] |
| Ensembl ID | ENSG00000129535 |
| Bio databases IDs | |
| Aliases | neural retina leucine zipper |
| Synonyms | D14H14S46E, D14S46E, neural retina leucine zipper, neural retina leucine zipper gene, NRL-MAF, Nrl (predicted), RP27 |
| 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 NRL 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
- Maf N-terminal region
- transcription regulator
- nucleic acid binding
- Pst domain
- LRR-domain binding
- leucine zipper domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- basic domain
- bZIP
- transcription factor activity
- 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
- retinitis pigmentosa type 27
- spinocerebellar ataxia type 7
- retinal dystrophy
- retinitis pigmentosa
- clumped pigmentary retinal degeneration
- enhanced S cone syndrome
role in cell
- expression in
- function
- cell death
- apoptosis
- transformation
- quantity
- size
- stress response
- activation
- abnormal morphology
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
- cytosol
- nucleoplasm
- synapse
- chromatin
- perikaryon
- cone outer segments
- rod inner segments
- cone inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NRL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of gene expression
- visual perception
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- retinal rod cell development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- 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
- leucine zipper domain binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity