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The Protein Pages

Neuroretina-linked Leucine Zipper
(NRL)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 07.07.00

Description

NRL is a transcription factor involved in retina specific gene expression.

GENE DATA

Exons:

Markers / RFLPs:

Transcripts: 1,3 kb

Regulatory elements:

Primers:

Chromosome 14 with NRL
Assignment: 14q11.2 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

ADRP and Cystoid Macula Edema

PROTEIN DATA
Subunits: 1 Amino acids: 237 AA
Modifications:


Mr/ Weight:

~30 kDa

Cofactors:


PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Neuroretina-linked Leucine Zipper
NRL Homo sapiens EC- P54845

Neuroretina-linked Leucine Zipper
Nrl Mus musculus EC- P54846 A48912

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
Neuroretina-linked Leucine Zipper
NRL Homo sapiens U95012 M95925 M81840 NM_006177 Hs.89606 92108034 98008930
Neuroretina-linked Leucine Zipper
Nrl Mus musculus L14935 NM_008736 Mm.20422 94116986

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Neuroretina-linked Leucine Zipper
NRL Homo sapiens 6165856
162080 4901
Neuroretina-linked Leucine Zipper
Nrl Mus musculus


18185

References:
1. Bhattacharya,S.S., Bessant,D.A., Payne,A.M., Mitton,K.P., Zack,D.J., and Swaroop,A. A Mutation In The Bzip Transcription Factor NRL Is Associated With Autosomal Dominant Retinitis Pigmentosa In A Family Linked To A Novel Locus At 14q11. 1999; Invest.Ophthalmol.Vis.Sci. 40: S564
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2. Farjo,Q., Jackson,A., Pieke Dahl,S., Scott,K., Kimberling,W.J., Sieving,P.A., Richards,J.E., and Swaroop,A. 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. 1997; Genomics. 45: 395-401.
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3. Kerppola,T.K. and Curran,T. Maf and Nrl can bind to AP-1 sites and form heterodimers with Fos and Jun. 1994; Oncogene. 9: 675-684.
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4. Mitton,K.P., Swain,P.K., Chen,S., Apel,I.J., Zack,D.J., and Swaroop,A. Interaction Of Nrl With Crx And A Novel Zinc-Finger Protein As Detected By The Yeast Two-Hybrid Assay. 2000; Invest.Ophthalm.Vis.Sci. S389
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5. Swaroop,A., Xu,J.Z., Pawar,H., Jackson,A., Skolnick,C., and Agarwal,N. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. 1992; Proc.Natl.Acad.Sci.U.S.A. 89: 266-270.
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6. Yang Feng,T.L. and Swaroop,A. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. 1992; Genomics. 14: 491-492.
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Contact the editor: irpamp@irpa.org 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz