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    NRL neural retina leucine zipper [ Homo sapiens (human) ]

    Gene ID: 4901, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NRLprovided by HGNC
    Official Full Name
    neural retina leucine zipperprovided by HGNC
    Primary source
    HGNC:HGNC:8002
    See related
    Ensembl:ENSG00000129535 MIM:162080; AllianceGenome:HGNC:8002
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP27; D14S46E; NRL-MAF
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 1.2), small intestine (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NRL in Genome Data Viewer
    Location:
    14q11.2-q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24078662..24114949, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18276978..18313262, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24547871..24584158, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 3 Neighboring gene uncharacterized LOC105370412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8184 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:24544925-24546124 Neighboring gene copine 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24551461-24552375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24558209-24558708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24563543-24564192 Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 2696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24583239-24583954 Neighboring gene DDB1 and CUL4 associated factor 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5624 Neighboring gene fat storage inducing transmembrane protein 1 Neighboring gene proteasome activator subunit 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. El-Asrag ME, et al. Mol Vis, 2022. PMID 35693422, Free PMC Article
    2. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. Yang-Feng TL, et al. Genomics, 1992 Oct. PMID 1427865
    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. Farjo Q, et al. Genomics, 1997 Oct 15. PMID 9344665
    4. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. Acar C, et al. Mol Vis, 2003 Jan 24. PMID 12552256
    5. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Bessant DA, et al. Arch Ophthalmol, 2003 Jun. PMID 12796249

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
      Title: Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
    2. NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
      Title: NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
    3. Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
      Title: Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
    4. that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup
      Title: NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.
    5. We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa.
      Title: Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.
    6. investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD)
      Title: Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
    7. This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype.
      Title: Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
    8. The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family.
      Title: Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
    9. In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation.
      Title: Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
    10. This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa.
      Title: Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa 27
    MedGen: C1834329 OMIM: 613750 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables leucine zipper domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinal rod cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    neural retina-specific leucine zipper protein
    Names
    Maf-family bZIP transcription factor NRL
    neural retinal-specific leucine zipper

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011697.2 RefSeqGene

      Range
      5066..41353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001354768.3 → NP_001341697.1  neural retina-specific leucine zipper protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136295, BQ638162, HY106550
      Consensus CDS
      CCDS9608.1
      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
      Related
      ENSP00000454062.2, ENST00000561028.6
      Conserved Domains (2) summary
      cd14718
      Location:154 → 223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67 → 101
      Maf_N; Maf N-terminal region

    2. NM_001354769.1 → NP_001341698.1  neural retina-specific leucine zipper protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136295, BX161522
      Consensus CDS
      CCDS9608.1
      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
      Related
      ENSP00000380193.1, ENST00000396997.1
      Conserved Domains (2) summary
      cd14718
      Location:154 → 223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67 → 101
      Maf_N; Maf N-terminal region

    3. NM_001354770.2 → NP_001341699.1  neural retina-specific leucine zipper protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136295
      Conserved Domains (1) summary
      cd14718
      Location:49 → 118
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

    4. NM_006177.5 → NP_006168.1  neural retina-specific leucine zipper protein isoform 1

      See identical proteins and their annotated locations for NP_006168.1

      Status: REVIEWED

      Source sequence(s)
      AL136295, BC012395
      Consensus CDS
      CCDS9608.1
      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
      Related
      ENSP00000380197.2, ENST00000397002.6
      Conserved Domains (2) summary
      cd14718
      Location:154 → 223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67 → 101
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24078662..24114949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536806.3 → XP_011535108.2  neural retina-specific leucine zipper protein isoform X3

    2. XM_011536801.3 → XP_011535103.2  neural retina-specific leucine zipper protein isoform X1

    3. XM_011536805.3 → XP_011535107.1  neural retina-specific leucine zipper protein isoform X2

      See identical proteins and their annotated locations for XP_011535107.1

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
      Conserved Domains (2) summary
      cd14718
      Location:154 → 223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67 → 101
      Maf_N; Maf N-terminal region

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      379640..415927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332343.1 → XP_054188318.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    2. XM_054332345.1 → XP_054188320.1  neural retina-specific leucine zipper protein isoform X3

    3. XM_054332340.1 → XP_054188315.1  neural retina-specific leucine zipper protein isoform X1

    4. XM_054332342.1 → XP_054188317.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    5. XM_054332344.1 → XP_054188319.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    6. XM_054332341.1 → XP_054188316.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18276978..18313262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376150.1 → XP_054232125.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    2. XM_054376152.1 → XP_054232127.1  neural retina-specific leucine zipper protein isoform X3

    3. XM_054376147.1 → XP_054232122.1  neural retina-specific leucine zipper protein isoform X1

    4. XM_054376149.1 → XP_054232124.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    5. XM_054376151.1 → XP_054232126.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0

    6. XM_054376148.1 → XP_054232123.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54845.1 GenPept UniProtKB/Swiss-Prot:P54845

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