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

    Gene ID: 4901, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NRL in Genome Data Viewer
    Location:
    14q11.2-q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24078662..24114949, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18276978..18313262, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001354768.3NP_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:154223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67101
      Maf_N; Maf N-terminal region
    2. NM_001354769.1NP_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:154223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67101
      Maf_N; Maf N-terminal region
    3. NM_001354770.2NP_001341699.1  neural retina-specific leucine zipper protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136295
      Conserved Domains (1) summary
      cd14718
      Location:49118
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    4. NM_006177.5NP_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:154223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67101
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011536806.3XP_011535108.2  neural retina-specific leucine zipper protein isoform X3

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

    3. XM_011536805.3XP_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:154223
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:67101
      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_054332343.1XP_054188318.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    2. XM_054332345.1XP_054188320.1  neural retina-specific leucine zipper protein isoform X3

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

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

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    5. XM_054332344.1XP_054188319.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    6. XM_054332341.1XP_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_054376150.1XP_054232125.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    2. XM_054376152.1XP_054232127.1  neural retina-specific leucine zipper protein isoform X3

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

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

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    5. XM_054376151.1XP_054232126.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0
    6. XM_054376148.1XP_054232123.1  neural retina-specific leucine zipper protein isoform X2

      UniProtKB/Swiss-Prot
      A8MX14, P54845, Q53XD0