NRL (Neural Retina Leucine Zipper)
A key transcription factor in retinal development and photoreceptor differentiation
Gene Information Card
| Symbol | NRL |
|---|---|
| Full Name | Neural Retina Leucine Zipper |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 4901 ncbi.nlm.nih.gov/gene/4901 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | P54845 |
| OMIM ID | 162080 |
| HGNC ID | 8000 |
| Aliases | D14S46E, MGC138432, RP27 |
Description
The NRL gene encodes a basic leucine zipper (bZIP) transcription factor that is essential for the development and maintenance of rod photoreceptors in the retina. It regulates the expression of rhodopsin and other phototransduction genes by binding to NRE (NRL response elements) in their promoters. Mutations in NRL are associated with autosomal dominant retinitis pigmentosa (adRP) and enhanced S-cone syndrome (ESCS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 27 (RP27) | Dominant-negative or haploinsufficient NRL mutations disrupt rod photoreceptor gene expression, leading to progressive rod degeneration. | ClinVar, OMIM |
| Enhanced S-cone syndrome (ESCS) | NRL loss-of-function or misregulation leads to excess S-cone differentiation at the expense of rods, causing retinal dysfunction. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 45.2 | High |
| Brain (cerebellum) | 0.3 | Low |
| Testis | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| Y79 (retinoblastoma) | 12.5 | Moderate |
| WERI-Rb-1 (retinoblastoma) | 8.9 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.622C>T (p.Arg208Trp) | Missense | <0.01% | Dominant-negative; associated with RP27 |
| c.544C>T (p.Arg182Cys) | Missense | <0.01% | Dominant-negative; associated with RP27 |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss-of-function; associated with ESCS |
Mutation functional classification
Loss of Function (LOF)
NRL loss-of-function mutations (e.g., start codon loss) impair rod differentiation and promote S-cone fate, leading to enhanced S-cone syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NRL.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain (e.g., p.Arg208Trp) act as dominant-negative, disrupting wild-type NRL function and causing autosomal dominant retinitis pigmentosa.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoid metabolism and phototransduction (Reactome: R-HSA-2453902)
• Gene expression in rod photoreceptors (KEGG: hsa04744)
Protein Summary
NRL is a 237-amino acid bZIP transcription factor that forms heterodimers with other bZIP proteins (e.g., Maf) to regulate rod-specific genes. It is predominantly expressed in the retina and is critical for rod photoreceptor differentiation and survival. Structural studies show that its leucine zipper domain mediates dimerization, while the basic region contacts DNA.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRL Knockout HEK293 Cell Line | EDJ-KQ5363 | Human | 4901 | Details Get a Quote |
| NRL Knockout A-549 Cell Line | EDJ-KQ28480 | Human | 4901 | Details Get a Quote |
| NRL Knockout HeLa Cell Line | EDJ-KQ54024 | Human | 4901 | Details Get a Quote |
| NRL Knockout HCT 116 Cell Line | EDJ-KQ70986 | Human | 4901 | Details Get a Quote |
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