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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NRL Gene

protein-coding   GIFtS: 57
GCID: GC14M024549

neural retina leucine zipper
 Explore 17 diseases affiliated with
NRL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NRL    

Aliases
for NRL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Neural Retina Leucine Zipper1 2
D14S46E1 2 3 5
RP271 2 5
NRL-MAF1 2
Neural Retina-Specific Leucine Zipper Protein2
Neural Retinal-Specific Leucine Zipper2

External Ids:    HGNC: 80021   Entrez Gene: 49012   Ensembl: ENSG000001295357   OMIM: 1620805   UniProtKB: P548453   

Export aliases for NRL gene to outside databases

Previous GC identifers: GC14M021921 GC14M018336 GC14M022539 GC14M023619 GC14M004664


Summaries
for NRL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NRL:
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. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B
(By similarity)

Gene Wiki entry for NRL


Genomic Views
for NRL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NRL gene promoter:
         COUP-TF1   C/EBPbeta   COUP-TF   COUP   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NRL promoter sequence
   Search SABiosciences Chromatin IP Primers for NRL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NRL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.1-q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.1-q11.2

NRL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRL gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024549:  view genomic region     (about GC identifiers)

Start:
 24,549,316 bp from pter      End:
 24,584,223 bp from pter
Size:
 34,908 bases      Orientation:
 minus strand

Proteins
for NRL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NRL_HUMAN, P54845 (See protein sequence)
Recommended Name: Neural retina-specific leucine zipper protein  
Size: 237 amino acids; 25940 Da
Subunit: Interacts with FIZ1. This interaction represses transactivation (By similarity). Interacts (via the
leucine-zipper domain) with CRX
Subcellular location: Nucleus
Secondary accessions: Q53XD0

Explore the universe of human proteins at neXtProt for NRL: NX_P54845

Post-translational modifications:

  • Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and is
    • required for normal rod differentiation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54845

    • NRL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006168.1  
    ENSEMBL proteins: 
     ENSP00000380197   ENSP00000454062   ENSP00000380193   ENSP00000452966   ENSP00000380191  
     ENSP00000454180  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: NRL
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    Novus Biologicals NRL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NRL

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    NRL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NRL

    Protein Domains /
    Families
    for NRL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NRL for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR004827 bZIP
     IPR024874 Transciption_factor_Maf
     IPR008917 Euk_TF_DNA-bd
     IPR004826 bZIP_Maf
     IPR013592 Maf_TF_N

    Graphical View of Domain Structure for InterPro Entry P54845

    ProtoNet protein and cluster: P54845

    2 Blocks protein families:
    IPB004826 Maf transcription factor
    IPB013592 Maf transcription factor


    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
    Domain: The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate trancription by
    recruiting TBP and associated factors at the promoters of target genes
    Similarity: Belongs to the bZIP family
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Function
    for NRL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
    Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B
    (By similarity)

         Genatlas biochemistry entry for NRL:
    neural retinal specific transcript,interacting with CRX,regulating the expression of rhodopsin and other retinal
    genes,small MAF protein family

    miRNA
    Products:            		 OriGene 3'-UTR Clone: NRL
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NRL
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate NRL:
    hsa-miR-320a hsa-miR-320d hsa-miR-3175 hsa-miR-3150a-3p hsa-miR-320b hsa-miR-513b hsa-miR-542-3p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmid: NRL 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NRL (see all 7)
    OriGene shRNA RFP: NRL
    OriGene siRNA: NRL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NRL

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NRL

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NRL (see all 4)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRL 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for NRL
    Search LifeMap BioReagents cell lines for NRL

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRL

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS1729696
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043522leucine zipper domain binding IPI10887186
    GO:0043565sequence-specific DNA binding IEA--


    NRL for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nrltm1Asw for NRL
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nrl):
     nervous system  vision/eye 

    NRL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NRL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    		Tacrolimus/Cyclosporine Pathway, Pharmacodynamics1.00


    1 PharmGKB Pathway for NRL
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NRL

    3 Interacting proteins for NRL (P548453) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRXO431863I2D: score=2 
    FIZ1Q96SL83I2D: score=2 
    EDF1O608693I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS8939891
    GO:0007468regulation of rhodopsin gene expression TAS8939891
    GO:0007601visual perception IEA--
    GO:0045872positive regulation of rhodopsin gene expression IEA--


    NRL for ontologies           About GeneDecksing



    Drugs & Compounds
    for NRL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NRL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NRL
    1 Novoseek chemical compound relationship for NRL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 59.7 11 8288222 (2), 17356515 (1), 17335001 (1), 1427865 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about NRL 

    Transcripts
    for NRL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NRL gene: 
    NM_006177.3  

    Unigene Cluster for NRL:

    Neural retina leucine zipper
    Hs.652297  [show with all ESTs]
    Unigene Representative Sequence: BX161381
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397002(uc021rrk.1 uc001wlo.3 uc001wlp.3) ENST00000561028(uc001wlq.3)
    ENST00000396997 ENST00000560550 ENST00000396995 ENST00000558280

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NRL
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate NRL:
    hsa-miR-320a hsa-miR-320d hsa-miR-3175 hsa-miR-3150a-3p hsa-miR-320b hsa-miR-513b hsa-miR-542-3p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmid: NRL 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NRL (see all 7)
    OriGene shRNA RFP: NRL
    OriGene siRNA: NRL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NRL
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NRL
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NRL (NM_006177)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRL 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NRL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NRL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NRL

    Additional cDNA sequence: 

    AB593101.1 AB593102.1 AB593103.1 AB593104.1 AB593105.1 AB593106.1 BC012395.1 BT006942.1 
    BX161381.1 BX161522.1 M81840.1 M95925.1 

    10 DOTS entries:

    DT.312352  DT.95156915  DT.100775953  DT.100026297  DT.100775952  DT.40245910  DT.92419500  DT.97839864 
    DT.100026299  DT.95180179 

    24/65 AceView cDNA sequences (see all 65):

    BX161522 BC012395 BX094113 BQ637859 BM767223 BU739205 BX161381 BQ636909 
    BQ639617 BQ635992 BI518894 BM716767 BQ636698 BQ638443 BQ637234 BU726817 
    CR593888 M81840 BU170697 BQ639442 BI549667 M95925 BQ637504 BM713847 

    GeneLoc Exon Structure


    Expression
    for NRL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NRL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTAGCACGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NRL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    EyeOuter Nuclear LayerRod Precursor CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Optic cup structures (Generation of strati...)
    Retinal progenitor-like cells (Generation of retina...)

    See NRL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NRL

    SOURCE GeneReport for Unigene cluster: Hs.652297

    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
    Tissue specificity: Neural retina

        SABiosciences Custom PCR Arrays for NRL
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRL

    Orthologs
    for NRL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NRL gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia NRL6
    --
    		 --
    		 48(a)
    34(a)
    		 1 ↔ 1
    possible ortholog
    		 GL344685.1(12103-14014)
    LGc(4938213-4938791)
    African clawed frog
    (Xenopus laevis)    		 Amphibia l-maf-A2 bZIP transcription factor L-Maf 76.04(n)    AF202059.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii nrl1 neural retina leucine zipper 65.53(n)
    62.44(a)    		   554169  NM_001040331.1  NP_001035421.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta tj6
    		 traffic jam
    		 14(a)
    		 1 → many
    		 2L(19464267-19467758)
    worm
    (Caenorhabditis elegans)    		 Secernentea maf-16
    		 --
    		 25(a)
    		 possible ortholog
    		 I(10382737-10384213)


    ENSEMBL Gene Tree for NRL (if available)
    TreeFam Gene Tree for NRL (if available) 

    Paralogs
    for NRL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NRL gene
    MAFF2  MAFG2  MAFA2  MAFK2  MAF2  MAFB2  
    6 SIMAP similar genes for NRL using alignment to 3 protein entries:     NRL_HUMAN (see all proteins):
    MAFG    MAFF    MAFK    MAF    MAFA    MAFB

    NRL for paralogs           About GeneDecksing



    Genomic Variants
    for NRL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/104 NCBI SNPs in NRL are shown (see all 104)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048944631,2
    		Cpathogenic4665613(-) GCGGCC/TGAAGC 2 P L mis10--------
    rs1048944591,2
    		Cpathogenic4666843(-) CTCCTA/TCACCC 2 T S mis10--------
    rs772844461,2
    		F,--4664260(+) ATGAAC/TACTTC 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs10517181,2
    		F,--4664544(-) ATCCTG/CCTGCA 1 -- ut31 ese32Minor allele frequency- C:0.05MN NA 304
    rs1143279521,2
    		C,F,--4664820(+) CTTCAG/AGCCTT 1 -- ut311Minor allele frequency- A:0.02WA 118
    rs359841061,2
    		F--4665533(+) CTCCAG/TCCCGC 2 M L mis11Minor allele frequency- T:0.50NA 4
    rs116264541,2
    		C,F,H--4665561(+) TTGGAG/TCGACA 2 R syn1 ese31Minor allele frequency- T:0.50NA 4
    rs101363111,2
    		C,F,--4665846(+) CTTCCA/GCGCAG 1 -- int11Minor allele frequency- G:0.06WA 118
    rs116279361,2
    		C,F,H,--4666526(+) ATAACC/GCCCTC 1 -- int16Minor allele frequency- G:0.03NS EA NA 540
    rs1134833491,2
    		F,--4667222(+) CAAGCA/CGCTGA 1 -- int12Minor allele frequency- C:0.04CSA WA 122

    HapMap Linkage Disequilibrium report for NRL (24549316 - 24584223 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NRL
         1 CNV: 49327
    Human Gene Mutation Database (HGMD): NRL

    Locus Specific Mutation Databases (LSDB): NRL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NRL
    DNA2.0 Custom Variant and Variant Library Synthesis for NRL

    Disorders / Diseases
    for NRL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NRL for disorders           About GeneDecksing

    OMIM gene information: 162080    OMIM disorders: --

    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
  • Defects in NRL are the cause of retinitis pigmentosa type 27 (RP27) [MIM:613750]. RP leads to degeneration of
    • retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As
    their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP27
    inheritance is autosomal dominant
  • Defects in NRL are a cause of retinal degeneration autosomal recessive clumped pigment type (RDCP)
    • [MIM:162080]. A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction
    in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive
    cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus
    at the level of the retinal pigment epithelium are present (clumped pigmentary retinal degeneration)

    17 diseases for NRL:    About MalaCards
    retinal degeneration, autosomal recessive, clumped pigment type    retinitis    retinitis pigmentosa    goldmann-favre syndrome
    retinitis pigmentosa-27    enhanced s-cone syndrome    leber congenital amaurosis    cone-rod dystrophy
    age related macular degeneration    retinal degeneration    spina bifida    macular degeneration
    night blindness    urticaria    blindness    retinal disease
    leukemia

    3 diseases from the University of Copenhagen DISEASES database for NRL:
    Retinitis pigmentosa     Leber congenital amaurosis     Blindness

    6 Novoseek disease relationships for NRL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enhanced s-cone syndrome 93.3 1 12552256 (1)
    retinitis pigmentosa 79.9 12 17335001 (3), 19933183 (2), 12796249 (2), 9344665 (1) (see all 5)
    lebers congenital amaurosis 78.2 2 12552256 (1), 20513135 (1)
    retinal degeneration 75.1 3 17356515 (1), 9344665 (1), 12552256 (1)
    retinopathy 62.1 4 17335001 (1), 1427865 (1), 9344665 (1), 12552256 (1)
    retinoblastoma 38.8 1 8552602 (1)

    Genetic Association Database (GAD): NRL
    Human Genome Epidemiology (HuGE) Navigator: NRL (7 documents)

    Export disorders for NRL gene to outside databases

    Publications
    for NRL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NRL gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with NRL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (PubMed id 10192380)1, 2, 3 Bessant D.A....Bhattacharya S.S. (1999)
    2. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. (PubMed id 1427865)1, 3, 9 Yang-Feng T.L. and Swaroop A. (1992)
    3. 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. (PubMed id 9344665)1, 2, 9 Farjo Q.... Swaroop A. (1997)
    4. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. (PubMed id 1729696)1, 2, 9 Swaroop A.... Agarwal N. (1992)
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (2011)
    6. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. (PubMed id 15591106)1, 2 Nishiguchi K.M....Dryja T.P. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. (PubMed id 15328344)1, 2 Friedman J.S....Swaroop A. (2004)
    9. Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. (PubMed id 11879142)1, 4 DeAngelis M.M....Dryja T.P. (2002)
    10. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. (PubMed id 10887186)1, 2 Mitton K.P....Swaroop A. (2000)

    External Searches for NRL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing NRL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4901 HGNC: 8002 AceView: NRL Ensembl:ENSG00000129535 euGenes: HUgn4901
    ECgene: NRL H-InvDB: NRL

    Other Databases showing NRL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NRL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NRL Pharmacogenomics, SNPs, Pathways
    Mutations of the NRL genehttp://www.retina-international.org/files/sci-news/nrlmut.htm

    Intellectual Property
    for NRL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NRL gene:
    Search GeneIP for patents involving NRL

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