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

Gene ID: 4901, updated on 17-Sep-2022

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
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Genomic context

See NRL in Genome Data Viewer
Location:
14q11.2-q12
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24078662..24114949, complement)
110 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 copine 6 Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 2696 Neighboring gene DDB1 and CUL4 associated factor 11 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

Homology

Gene Ontology Provided by GOA

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
PubMed 
located_in 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)

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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_001354768.3NP_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
    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
    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

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