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NRL Gene

protein-coding   GIFtS: 60

GC14M023619
neural retina leucine zipper
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
D14S46E 1, 2, 3, 5
NRL-MAF 1, 2
OTTHUMP00000027969 2
OTTHUMP00000164707 2
RP27 1, 2, 5
Descriptions
neural retina leucine zipper 2
neural retinal-specific leucine zipper 2
External Ids
HGNC: 80021
Entrez Gene: 49012
UniProtKB: P548453
Ensembl: ENSG000001295357
Search outside databases for aliases for NRL gene

Previous GC identifers: GC14M021921 GC14M018336 GC14M022539

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NRL gene  

Entrez Gene cytogenetic band: 14q11.1-q11.2   Ensembl cytogenetic band:  14q12   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)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023619:     (about GC identifiers)

Start:
23,619,156 bp from pter
End:
23,654,063 bp from pter
Size:
34,908 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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)
Subcellular location: Nucleus

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_006168.1  

    ENSEMBL proteins: 
    ENSP00000337023 ENSP00000380197 ENSP00000380191 ENSP00000380193 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (NRL)
    Browse Abnova for Human Recombinant Proteins
                  OriGene Purified Recombinant Human Protein: NRL 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus TAS8939891
    About this table

    Antibodies for NRL: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of NRL
    Browse Antibodies at Sigma-Aldrich
    R&D Systems Antibodies for NRL
    Antibodies from Abcam (NRL), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for NRL

    Assays for NRL: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    3 InterPro domains/families:
     IPR004827 TF_bZIP
     IPR013592 Maf_TF_N
     IPR004826 TF_Maf


       GeneDecks  NRL for the domains selected above  
    About GeneDecksing

    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
    Similarity: Belongs to the bZIP family
    Similarity: Contains 1 bZIP domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NRL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NRL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006177

                  Applied Biosystems Silencer® siRNAs for NRL

                  Sigma-Aldrich siRNA for NRL  
                         Sigma-Aldrich shRNA for NRL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006177
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006177
                                     untagged cDNA clone in CMV expression vector: NM_006177 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_006177

    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

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nrl):

    nervous systemvision/eye

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity IEA--
    GO:0003704 specific RNA polymerase II transcription factor activity TAS8939891
    GO:0043565 sequence-specific DNA binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  NRL 


    5/17 Interacting proteins for NRL (ENSP000003370233) via UniProtKB, MINT, and/or STRING (see all 17 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRXENSP000002219963STRING (score=.999)
    FIZ1ENSP000002216653STRING (score=.994)
    RHOENSP000002962713STRING (score=.993)
    NR2E3ENSP000003171993STRING (score=.992)
    ADFPENSP000002769143STRING (score=.928)
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0007601 visual perception TAS1729696
    GO:0045872 positive regulation of rhodopsin gene expression IEA--
    GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA--
    GO:0046548 retinal rod cell development IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for NRL
    1 Novoseek chemical compound relationship for NRL gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 60.93 11 8288222 (2), 17356515 (1), 17335001 (1), 1427865 (1) (see all 8)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NRL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NRL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006177

                  Sigma-Aldrich siRNA for NRL  
                         Sigma-Aldrich shRNA for NRL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_006177  

    REFSEQ mRNAs for NRL gene: 

    NM_006177.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_006177  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006177
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006177
                                     untagged cDNA clone in CMV expression vector: NM_006177 

    Additional cDNA sequence: 

    BC012395.1 BT006942.1 BX161381.1 BX161522.1 CR593888.1 M81840.1 M95925.1 

    12 DOTS entries:

    DT.312352  DT.95156915  DT.100775953  DT.100026297  DT.100775952  DT.40245910  DT.92419500  DT.97839864 
    DT.100026299  DT.95180179  DT.100803170  DT.92410643 

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

    BC012395 BQ636698 BX161522 BQ638443 CR593888 BU726817 BX161381 BI518894 
    BQ637234 BQ635992 M81840 BM716767 BM767223 BU739205 BQ637859 BQ639617 
    BX094113 BQ636909 H84758 BT006942 BM690285 BQ639136 BU170697 BG473227 

    highest scoring ESTs for NRL:

    BI549667 M95925 AA020759 AA021554 AA054037 AI133332 AW444720 AW451716 BC012395 BE618859 

    Unigene Cluster for NRL:

    Neural retina leucine zipper
    Hs.652297  [show with all ESTs]
    Unigene Representative Sequence: BX161381


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000337947  ENST00000397002  ENST00000396995  ENST00000396997  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    NRL expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NRL

    1 / 2 / 3

    5 probe-sets matching NRL gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    33159_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M95925 0.80 1.00 0.91 1

    206596_s_at2, 3 U133-A 1 1.00 1.00 -- -- M81840 0.60 1.00 0.82 1

    206597_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006177 0.60 1.00 0.82 1

    206596_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    206597_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACTAGCACGC

    SOURCE GeneReport for Unigene cluster: Hs.652297

    Expression variation in blood from EXPOLDB for NRL

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for NRL gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NRL1   -- neural retina leucine zipper 92.55(n)
    93.67(a)
    490620  XM_547742.2  XP_547742.1 
    chimpanzee
    (Pan troglodytes)
    NRL1   -- neural retina leucine zipper 99.58(n)
    100(a)
    452806  XM_001166004.1  XP_001166004.1 
    cow
    (Bos taurus)
    NRL1   -- neural retina leucine zipper 92.69(n)
    93.86(a)
    521544  XM_599808.3  XP_599808.3 
    rat
    (Rattus norvegicus)
    Nrl1   -- neural retina leucine zipper 86.64(n)
    90.3(a)
    290221  XM_224189.2  XP_224189.1 
    mouse
    (Mus musculus)
    Nrl1, 5 14 (19.50 cM)5
    neural retina leucine zipper gene1, 5 86.08(n)1
    89.45(a)1
    181851  NM_008736.21  NP_032762.11 
     AK0442445  AK0442755  (see all 11)
    About this table        Species with no ortholog for NRL

    ENSEMBL Gene Tree for NRL
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for NRL gene
    MAFA2  MAF2  MAFB2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/22 NCBI SNPs in NRL are shown (see all 22 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 83)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 14 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs35611,2
    A,C,F,H23620064(-) ACACAG/AAAACC 1 -- ut31 ese310Minor allele frequency- A:0.48NA EA MN EU WA 1938
    --
    rs118471381,2
    A,C23625040(+) gtgggC/Tggatc 1 -- ng310--------
    rs10517181,2
    F23619451(-) ATCCTG/CCTGCA 1 -- ut31 ese31Minor allele frequency- C:0.07MN 184
    rs35601,2
    H23620172(-) CCACGC/ACCTGT 1 -- ut31 ese35Minor allele frequency- A:0.00MN EU EA WA 602
    rs116264541,2
    C23620468(+) TTGGAG/TCGACA 1 R/R syn1 ese30--------
    rs116279361,2
    C,F,H23621433(+) ATAACC/GCCCTC 1 -- int14Minor allele frequency- G:0.02EU EA WA 418
    --
    rs355482571,2
    --23624235(+) AGGGG-/GATCTC 1 -- ng310--------
    --
    rs128853091,2
    --23620435(+) TCGGCA/CTCCAG 1 E/D mis1 ese30--------
    --
    rs128903701,2
    --23620436(+) CGGCCG/TCCAGC 1 E/A mis1 ese30--------
    --
    rs128858871,2
    --23620418(+) CGGCCA/GGGCGG 1 L/P mis10--------
    About this table

    HapMap Linkage Disequilibrium images for NRL (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 162080

    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845

  • Defects in NRL are the cause of retinitis pigmentosa type 27 (RP27) [MIM:162080]. 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
  • 6 Novoseek disease relationships for NRL gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    enhanced s-cone syndrome 87.64 1 12552256 (1)
    retinitis pigmentosa 79.63 10 17335001 (3), 12796249 (2), 9344665 (1), 11528500 (1)
    retinal degeneration 76.45 3 17356515 (1), 9344665 (1), 12552256 (1)
    lebers congenital amaurosis 74.92 1 12552256 (1)
    retinopathy 63.65 4 17335001 (1), 1427865 (1), 9344665 (1), 12552256 (1)
    retinoblastoma 40.34 1 8552602 (1)
    About this table

    Human Gene Mutation Database: NRL
    Genetic Association Database: NRL

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/43 PubMed articles for NRL gene (see all 43 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 4901 HGNC: 8002 AceView: NRL Ensembl:ENSG00000129535 euGenes: HUgn4901
    ECgene: NRL H-InvDB: NRL
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Mutations of the NRL genehttp://www.retina-international.com/sci-news/nrlmut.htm
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NRL:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for NRL Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for NRL Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Tocris compounds for NRL




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for NRL

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