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

Gene ID: 4901, updated on 29-Mar-2020

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
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

Genomic context

See NRL in Genome Data Viewer
Location:
14q11.2-q12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24078662..24114949, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24547902..24584223, 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 copine 6 Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial Neighboring gene DDB1 and CUL4 associated factor 11 Neighboring gene fat storage inducing transmembrane protein 1 Neighboring gene proteasome activator subunit 1 Neighboring gene ER membrane protein complex subunit 9

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of rhodopsin gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of rhodopsin gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retinal rod cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neural retina-specific leucine zipper protein
Names
neural retinal-specific leucine zipper

NCBI Reference Sequences (RefSeq)

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..41315
    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
    Related
    ENSP00000454062.1, ENST00000561028.5
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    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
    Related
    ENSP00000380193.1, ENST00000396997.1
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    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
    P54845
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    pfam08383
    Location:67101
    Maf_N; Maf N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536802.1XP_011535104.1  neural retina-specific leucine zipper protein isoform X2

    See identical proteins and their annotated locations for XP_011535104.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    pfam08383
    Location:67101
    Maf_N; Maf N-terminal region
  2. XM_005267709.3XP_005267766.1  neural retina-specific leucine zipper protein isoform X2

    See identical proteins and their annotated locations for XP_005267766.1

    UniProtKB/Swiss-Prot
    P54845
    Related
    ENSP00000380197.2, ENST00000397002.6
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    pfam08383
    Location:67101
    Maf_N; Maf N-terminal region
  3. XM_011536805.2XP_011535107.1  neural retina-specific leucine zipper protein isoform X2

    See identical proteins and their annotated locations for XP_011535107.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    pfam08383
    Location:67101
    Maf_N; Maf N-terminal region
  4. XM_011536804.2XP_011535106.1  neural retina-specific leucine zipper protein isoform X2

    See identical proteins and their annotated locations for XP_011535106.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (3) summary
    cd14718
    Location:154223
    bZIP_Maf_large; coiled coil [structural motif]
    pfam03131
    Location:132223
    bZIP_Maf; bZIP Maf transcription factor
    pfam08383
    Location:67101
    Maf_N; Maf N-terminal region
  5. XM_011536806.2XP_011535108.2  neural retina-specific leucine zipper protein isoform X3

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

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