NRL (gene): Difference between revisions

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{{DISPLAYTITLE:''NRL'' (gene)}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Neural retina-specific leucine zipper protein''' is a [[protein]] that in humans is encoded by the ''NRL'' [[gene]].<ref name="pmid1427865">{{cite journal | vauthors = Yang-Feng TL, Swaroop A | title = Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2 | journal = Genomics | volume = 14 | issue = 2 | pages = 491–2 | date = Oct 1992 | pmid = 1427865 | pmc =  | doi = 10.1016/S0888-7543(05)80248-4 }}</ref><ref name="pmid10192380">{{cite journal | vauthors = Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS | title = A mutation in NRL is associated with autosomal dominant retinitis pigmentosa | journal = Nature Genetics | volume = 21 | issue = 4 | pages = 355–6 | date = Apr 1999 | pmid = 10192380 | pmc = | doi = 10.1038/7678 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NRL neural retina leucine zipper| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4901| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
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| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Neural retina leucine zipper
| HGNCid = 8002
| Symbol = NRL
| AltSymbols =; D14S46E; RP27
| OMIM = 162080
| ECnumber = 
| Homologene = 4501
| MGIid = 102567
| GeneAtlas_image1 = PBB_GE_NRL_206596_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_NRL_206597_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003704 |text = specific RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046983 |text = protein dimerization activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0045872 |text = positive regulation of rhodopsin gene activity}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0046548 |text = retinal rod cell development}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4901
    | Hs_Ensembl = ENSG00000129535
    | Hs_RefseqProtein = NP_006168
    | Hs_RefseqmRNA = NM_006177
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 23619216
    | Hs_GenLoc_end = 23654063
    | Hs_Uniprot = P54845
    | Mm_EntrezGene = 18185
    | Mm_Ensembl = ENSMUSG00000040632
    | Mm_RefseqmRNA = XM_977385
    | Mm_RefseqProtein = XP_982479
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 54473589
    | Mm_GenLoc_end = 54479052
    | Mm_Uniprot = Q543Y0
  }}
}}
'''Neural retina leucine zipper''', also known as '''NRL''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NRL neural retina leucine zipper| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4901| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 protein|photoceptor]] development and function. Mutations in this gene have been associated with [[retinitis pigmentosa]] and retinal degenerative diseases.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: NRL neural retina leucine zipper| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4901| accessdate = }}</ref>
}}


==See also==
== See also ==
* [[Transcription factor]]
* [[Transcription factor]]


==References==
== References ==
{{reflist|2}}
{{reflist}}
{{Clear}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C, Agarwal N | title = A conserved retina-specific gene encodes a basic motif/leucine zipper domain | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 1 | pages = 266–70 | date = Jan 1992 | pmid = 1729696 | pmc = 48217 | doi = 10.1073/pnas.89.1.266 }}
| citations =
* {{cite journal | vauthors = Kumar R, Chen S, Scheurer D, Wang QL, Duh E, Sung CH, Rehemtulla A, Swaroop A, Adler R, Zack DJ | title = The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures | journal = The Journal of Biological Chemistry | volume = 271 | issue = 47 | pages = 29612–8 | date = Nov 1996 | pmid = 8939891 | doi = 10.1074/jbc.271.47.29612 }}
*{{cite journal | author=Yang-Feng TL, Swaroop A |title=Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. |journal=Genomics |volume=14 |issue= 2 |pages= 491-2 |year= 1992 |pmid= 1427865 |doi=  }}
* {{cite journal | vauthors = Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A | title = 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 | journal = Genomics | volume = 45 | issue = 2 | pages = 395–401 | date = Oct 1997 | pmid = 9344665 | doi = 10.1006/geno.1997.4964 }}
*{{cite journal  | author=Swaroop A, Xu JZ, Pawar H, ''et al.'' |title=A conserved retina-specific gene encodes a basic motif/leucine zipper domain. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 1 |pages= 266-70 |year= 1992 |pmid= 1729696 |doi= }}
* {{cite journal | vauthors = Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ | title = Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes | journal = Neuron | volume = 19 | issue = 5 | pages = 1017–30 | date = Nov 1997 | pmid = 9390516 | doi = 10.1016/S0896-6273(00)80394-3 }}
*{{cite journal | author=Kumar R, Chen S, Scheurer D, ''et al.'' |title=The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures. |journal=J. Biol. Chem. |volume=271 |issue= 47 |pages= 29612-8 |year= 1997 |pmid= 8939891 |doi= }}
* {{cite journal | vauthors = Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A | title = The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation | journal = The Journal of Biological Chemistry | volume = 275 | issue = 38 | pages = 29794–9 | date = Sep 2000 | pmid = 10887186 | doi = 10.1074/jbc.M003658200 }}
*{{cite journal | author=Farjo Q, Jackson A, Pieke-Dahl S, ''et al.'' |title=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. |journal=Genomics |volume=45 |issue= 2 |pages= 395-401 |year= 1998 |pmid= 9344665 |doi= 10.1006/geno.1997.4964 }}
* {{cite journal | vauthors = Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A | title = Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors | journal = The Journal of Biological Chemistry | volume = 276 | issue = 39 | pages = 36824–30 | date = Sep 2001 | pmid = 11477108 | doi = 10.1074/jbc.M105855200 }}
*{{cite journal | author=Chen S, Wang QL, Nie Z, ''et al.'' |title=Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. |journal=Neuron |volume=19 |issue= 5 |pages= 1017-30 |year= 1997 |pmid= 9390516 |doi=  }}
* {{cite journal | vauthors = DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP | title = Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa | journal = Archives of Ophthalmology | volume = 120 | issue = 3 | pages = 369–75 | date = Mar 2002 | pmid = 11879142 | doi = 10.1001/archopht.120.3.369 }}
*{{cite journal  | author=Bessant DA, Payne AM, Mitton KP, ''et al.'' |title=A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 355-6 |year= 1999 |pmid= 10192380 |doi= 10.1038/7678 }}
* {{cite journal | vauthors = Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K | title = 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 | journal = Molecular Vision | volume = 8 | issue =  | pages = 196–204 | date = Jun 2002 | pmid = 12107411 | doi =  }}
*{{cite journal | author=Mitton KP, Swain PK, Chen S, ''et al.'' |title=The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. |journal=J. Biol. Chem. |volume=275 |issue= 38 |pages= 29794-9 |year= 2000 |pmid= 10887186 |doi= 10.1074/jbc.M003658200 }}
* {{cite journal | vauthors = Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A | title = Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene | journal = Molecular Vision | volume = 9 | issue =  | pages = 14–7 | date = Jan 2003 | pmid = 12552256 | doi =  }}
*{{cite journal | author=Swain PK, Hicks D, Mears AJ, ''et al.'' |title=Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. |journal=J. Biol. Chem. |volume=276 |issue= 39 |pages= 36824-30 |year= 2001 |pmid= 11477108 |doi= 10.1074/jbc.M105855200 }}
* {{cite journal | vauthors = Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A | title = Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor | journal = Human Molecular Genetics | volume = 12 | issue = 4 | pages = 365–73 | date = Feb 2003 | pmid = 12566383 | doi = 10.1093/hmg/ddg035 }}
*{{cite journal | author=DeAngelis MM, Grimsby JL, Sandberg MA, ''et al.'' |title=Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. |journal=Arch. Ophthalmol. |volume=120 |issue= 3 |pages= 369-75 |year= 2002 |pmid= 11879142 |doi= }}
* {{cite journal | vauthors = Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC | title = Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene | journal = Archives of Ophthalmology | volume = 121 | issue = 6 | pages = 793–802 | date = Jun 2003 | pmid = 12796249 | doi = 10.1001/archopht.121.6.793 }}
*{{cite journal | author=Wistow G, Bernstein SL, Wyatt MK, ''et al.'' |title=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. |journal=Mol. Vis. |volume=8 |issue=  |pages= 196-204 |year= 2002 |pmid= 12107411 |doi=  }}
* {{cite journal | vauthors = Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB | title = Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity | journal = The Journal of Biological Chemistry | volume = 279 | issue = 19 | pages = 19800–7 | date = May 2004 | pmid = 15001570 | doi = 10.1074/jbc.M401864200 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A | title = The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein | journal = The Journal of Biological Chemistry | volume = 279 | issue = 45 | pages = 47233–41 | date = Nov 2004 | pmid = 15328344 | doi = 10.1074/jbc.M408298200 }}
*{{cite journal  | author=Acar C, Mears AJ, Yashar BM, ''et al.'' |title=Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. |journal=Mol. Vis. |volume=9 |issue=  |pages= 14-7 |year= 2003 |pmid= 12552256 |doi=  }}
* {{cite journal | vauthors = 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 | title = Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome | journal = Human Mutation | volume = 24 | issue = 5 | pages = 439 | date = Nov 2004 | pmid = 15459973 | doi = 10.1002/humu.9285 }}
*{{cite journal | author=Mitton KP, Swain PK, Khanna H, ''et al.'' |title=Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor. |journal=Hum. Mol. Genet. |volume=12 |issue= 4 |pages= 365-73 |year= 2003 |pmid= 12566383 |doi= }}
* {{cite journal | vauthors = Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP | title = Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 51 | pages = 17819–24 | date = Dec 2004 | pmid = 15591106 | pmc = 535407 | doi = 10.1073/pnas.0408183101 }}
*{{cite journal | author=Bessant DA, Holder GE, Fitzke FW, ''et al.'' |title=Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. |journal=Arch. Ophthalmol. |volume=121 |issue= 6 |pages= 793-802 |year= 2003 |pmid= 12796249 |doi= 10.1001/archopht.121.6.793 }}
* {{cite journal | vauthors = Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A | title = Retinoic acid regulates the expression of photoreceptor transcription factor NRL | journal = The Journal of Biological Chemistry | volume = 281 | issue = 37 | pages = 27327–34 | date = Sep 2006 | pmid = 16854989 | pmc = 1592579 | doi = 10.1074/jbc.M605500200 }}
*{{cite journal | author=Pittler SJ, Zhang Y, Chen S, ''et al.'' |title=Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity. |journal=J. Biol. Chem. |volume=279 |issue= 19 |pages= 19800-7 |year= 2004 |pmid= 15001570 |doi= 10.1074/jbc.M401864200 }}
*{{cite journal | author=Friedman JS, Khanna H, Swain PK, ''et al.'' |title=The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 47233-41 |year= 2004 |pmid= 15328344 |doi= 10.1074/jbc.M408298200 }}
*{{cite journal | author=Wright AF, Reddick AC, Schwartz SB, ''et al.'' |title=Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. |journal=Hum. Mutat. |volume=24 |issue= 5 |pages= 439 |year= 2005 |pmid= 15459973 |doi= 10.1002/humu.9285 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Nishiguchi KM, Friedman JS, Sandberg MA, ''et al.'' |title=Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 51 |pages= 17819-24 |year= 2005 |pmid= 15591106 |doi= 10.1073/pnas.0408183101 }}
*{{cite journal | author=Khanna H, Akimoto M, Siffroi-Fernandez S, ''et al.'' |title=Retinoic acid regulates the expression of photoreceptor transcription factor NRL. |journal=J. Biol. Chem. |volume=281 |issue= 37 |pages= 27327-34 |year= 2006 |pmid= 16854989 |doi= 10.1074/jbc.M605500200 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1417/  GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
* {{MeshName|NRL+protein,+human}}
* {{MeshName|NRL+protein,+human}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
{{Transcription factors|g1}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-14-stub}}

Latest revision as of 13:15, 5 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.[1][2][3]

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 photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.[3]

See also

References

  1. ↑ Yang-Feng TL, Swaroop A (Oct 1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2". Genomics. 14 (2): 491–2. doi:10.1016/S0888-7543(05)80248-4. PMID 1427865.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "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. 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.
  • 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.
  • 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. 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

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



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