NRL (gene)

NRL
Identifiers
Aliases	NRL , D14S46E, NRL-MAF, RP27, neural retina leucine zipper
External IDs	OMIM: 162080; MGI: 102567; HomoloGene: 4501; GeneCards: NRL; OMA:NRL - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q11.2-q12 Start 24,078,662 bp [1] End 24,115,010 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 C3|14 28.19 cM Start 55,756,435 bp [2] End 55,762,438 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle muscle of thigh right lobe of liver granulocyte C1 segment prefrontal cortex gonad apex of heart human kidney amygdala Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens outer nuclear layer ciliary body iris cornea conjunctival fornix ganglion cell layer morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding leucine zipper domain binding DNA-binding transcription activator activity, RNA polymerase II-specific protein binding promoter-specific chromatin binding transcription coactivator activity sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm cytosol nucleus cytoplasm Biological process multicellular organism development regulation of transcription, DNA-templated transcription by RNA polymerase II transcription, DNA-templated visual perception response to stimulus retinal rod cell development positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4901 18185 Ensembl ENSG00000129535 ENSG00000285493 ENSMUSG00000040632 UniProt P54845 P54846 RefSeq (mRNA) NM_006177 NM_001354768 NM_001354769 NM_001354770 NM_001136074 NM_001271916 NM_001271917 NM_008736 RefSeq (protein) NP_006168 NP_001341697 NP_001341698 NP_001341699 NP_001129546 NP_001258845 NP_001258846 NP_032762 Location (UCSC) Chr 14: 24.08 – 24.12 Mb Chr 14: 55.76 – 55.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene. ^{[5] [6] [7]}

Function

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 photoreceptor cell development and function. Mutations in this gene have been associated with retinitis pigmentosa and degenerative diseases of the retina. ^[7]

See also

• Transcription factor

References

1. ENSG00000285493 GRCh38: Ensembl release 89: ENSG00000129535, ENSG00000285493 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040632 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yang-Feng TL, Swaroop A (Oct 1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2" (PDF). Genomics. 14 (2): 491–2. doi:10.1016/S0888-7543(05)80248-4. hdl: 2027.42/29820 . PMID   1427865.
6. Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS (Apr 1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nature Genetics. 21 (4): 355–6. doi:10.1038/7678. PMID   10192380. S2CID   28621258.
7. "Entrez Gene: NRL neural retina leucine zipper".

Further reading

• Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C, Agarwal N (Jan 1992). "A conserved retina-specific gene encodes a basic motif/leucine zipper domain". Proceedings of the National Academy of Sciences of the United States of America. 89 (1): 266–70. Bibcode:1992PNAS...89..266S. doi: 10.1073/pnas.89.1.266 . PMC   48217 . PMID   1729696.
• Kumar R, Chen S, Scheurer D, Wang QL, Duh E, Sung CH, Rehemtulla A, Swaroop A, Adler R, Zack DJ (Nov 1996). "The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures". The Journal of Biological Chemistry. 271 (47): 29612–8. doi: 10.1074/jbc.271.47.29612 . PMID   8939891.
• Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A (Oct 1997). "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.
• Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ (Nov 1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes". Neuron. 19 (5): 1017–30. doi: 10.1016/S0896-6273(00)80394-3 . PMID   9390516. S2CID   18485264.
• Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A (Sep 2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation". The Journal of Biological Chemistry. 275 (38): 29794–9. doi: 10.1074/jbc.M003658200 . PMID   10887186.
• Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A (Sep 2001). "Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors". The Journal of Biological Chemistry. 276 (39): 36824–30. doi: 10.1074/jbc.M105855200 . PMID   11477108.
• DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP (Mar 2002). "Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa". Archives of Ophthalmology. 120 (3): 369–75. doi:10.1001/archopht.120.3.369. PMID   11879142.
• Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (Jun 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". Molecular Vision. 8: 196–204. PMID   12107411.
• Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A (Jan 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". Molecular Vision. 9: 14–7. PMID   12552256.
• Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A (Feb 2003). "Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor". Human Molecular Genetics. 12 (4): 365–73. doi: 10.1093/hmg/ddg035 . PMID   12566383.
• Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC (Jun 2003). "Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene". Archives of Ophthalmology. 121 (6): 793–802. doi:10.1001/archopht.121.6.793. PMID   12796249.
• Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB (May 2004). "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity". The Journal of Biological Chemistry. 279 (19): 19800–7. doi: 10.1074/jbc.M401864200 . PMID   15001570.
• Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A (Nov 2004). "The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein". The Journal of Biological Chemistry. 279 (45): 47233–41. doi: 10.1074/jbc.M408298200 . PMID   15328344.
• Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A (Nov 2004). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Human Mutation. 24 (5): 439. doi:10.1002/humu.9285. PMID   15459973. S2CID   18561451.
• Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP (Dec 2004). "Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function". Proceedings of the National Academy of Sciences of the United States of America. 101 (51): 17819–24. Bibcode:2004PNAS..10117819N. doi: 10.1073/pnas.0408183101 . PMC   535407 . PMID   15591106.
• Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A (Sep 2006). "Retinoic acid regulates the expression of photoreceptor transcription factor NRL". The Journal of Biological Chemistry. 281 (37): 27327–34. doi: 10.1074/jbc.M605500200 . PMC   1592579 . PMID   16854989.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
• NRL+protein,+human at the U.S. 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.