NRL (gene)

Neural retina leucine zipper
Identifiers
Symbols	NRL ; D14S46E; RP27
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4501
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE NRL 206596 s at tn.png
File:PBB GE NRL 206597 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Neural retina leucine zipper, also known as NRL, is a human gene.

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.

See also

• Transcription factor

Further reading

• Yang-Feng TL, Swaroop A (1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2". Genomics. 14 (2): 491–2. PMID 1427865.
• Swaroop A, Xu JZ, Pawar H; et al. (1992). "A conserved retina-specific gene encodes a basic motif/leucine zipper domain". Proc. Natl. Acad. Sci. U.S.A. 89 (1): 266–70. PMID 1729696.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kumar R, Chen S, Scheurer D; et al. (1997). "The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures". J. Biol. Chem. 271 (47): 29612–8. PMID 8939891.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Farjo Q, Jackson A, Pieke-Dahl S; et al. (1998). "Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration". Genomics. 45 (2): 395–401. doi:10.1006/geno.1997.4964. PMID 9344665.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chen S, Wang QL, Nie Z; et al. (1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes". Neuron. 19 (5): 1017–30. PMID 9390516.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bessant DA, Payne AM, Mitton KP; et al. (1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nat. Genet. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mitton KP, Swain PK, Chen S; et al. (2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation". J. Biol. Chem. 275 (38): 29794–9. doi:10.1074/jbc.M003658200. PMID 10887186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Swain PK, Hicks D, Mears AJ; et al. (2001). "Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors". J. Biol. Chem. 276 (39): 36824–30. doi:10.1074/jbc.M105855200. PMID 11477108.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• DeAngelis MM, Grimsby JL, Sandberg MA; et al. (2002). "Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa". Arch. Ophthalmol. 120 (3): 369–75. PMID 11879142.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wistow G, Bernstein SL, Wyatt MK; et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis. 8: 196–204. PMID 12107411.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Acar C, Mears AJ, Yashar BM; et al. (2003). "Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene". Mol. Vis. 9: 14–7. PMID 12552256.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mitton KP, Swain PK, Khanna H; et al. (2003). "Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor". Hum. Mol. Genet. 12 (4): 365–73. PMID 12566383.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bessant DA, Holder GE, Fitzke FW; et al. (2003). "Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene". Arch. Ophthalmol. 121 (6): 793–802. doi:10.1001/archopht.121.6.793. PMID 12796249.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pittler SJ, Zhang Y, Chen S; et al. (2004). "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity". J. Biol. Chem. 279 (19): 19800–7. doi:10.1074/jbc.M401864200. PMID 15001570.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Friedman JS, Khanna H, Swain PK; et al. (2004). "The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein". J. Biol. Chem. 279 (45): 47233–41. doi:10.1074/jbc.M408298200. PMID 15328344.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wright AF, Reddick AC, Schwartz SB; et al. (2005). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Hum. Mutat. 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishiguchi KM, Friedman JS, Sandberg MA; et al. (2005). "Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function". Proc. Natl. Acad. Sci. U.S.A. 101 (51): 17819–24. doi:10.1073/pnas.0408183101. PMID 15591106.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Khanna H, Akimoto M, Siffroi-Fernandez S; et al. (2006). "Retinoic acid regulates the expression of photoreceptor transcription factor NRL". J. Biol. Chem. 281 (37): 27327–34. doi:10.1074/jbc.M605500200. PMID 16854989.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• NRL+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.