NRL
Identifiers
Aliases	NRL, D14S46E, NRL-MAF, RP27, neural retina leucine zipper
External IDs	OMIM: 162080 MGI: 102567 HomoloGene: 4501 GeneCards: NRL
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 right lobe of liver prefrontal cortex kidney amygdala right adrenal gland nucleus accumbens substantia nigra putamen left adrenal gland gastrocnemius muscle Top expressed in retinal pigment epithelium outer nuclear layer ciliary body iris cornea conjunctival fornix ganglion cell layer morula inner nuclear layer facial motor nucleus 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
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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]