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

Gene ID: 4901, updated on 25-Jul-2015
Official Symbol
NRLprovided by HGNC
Official Full Name
neural retina leucine zipperprovided by HGNC
Primary source
HGNC:HGNC:8002
See related
Ensembl:ENSG00000129535; HPRD:08875; MIM:162080; Vega:OTTHUMG00000028789
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]
Orthologs
Location:
14q11.1-q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (24078693..24114802, 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 leucine rich repeat containing 16B Neighboring gene uncharacterized LOC105370412 Neighboring gene copine VI (neuronal) 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 (prosome, macropain) activator subunit 1 (PA28 alpha) Neighboring gene ER membrane protein complex subunit 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of rhodopsin gene expression TAS
Traceable Author Statement
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neural retina-specific leucine zipper protein
Names
neural retinal-specific leucine zipper

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_011697.1 RefSeqGene

    Range
    5001..9517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006177.3NP_006168.1  neural retina-specific leucine zipper protein

    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
    Related
    ENSP00000380197, OTTHUMP00000164706, ENST00000397002, OTTHUMT00000071891
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    24078693..24114802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536802.1XP_011535104.1  

    See identical proteins and their annotated locations for XP_011535104.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  2. XM_005267709.3XP_005267766.1  

    See identical proteins and their annotated locations for XP_005267766.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  3. XM_011536805.1XP_011535107.1  

    See identical proteins and their annotated locations for XP_011535107.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  4. XM_011536803.1XP_011535105.1  

    See identical proteins and their annotated locations for XP_011535105.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  5. XM_011536804.1XP_011535106.1  

    See identical proteins and their annotated locations for XP_011535106.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  6. XM_005267710.3XP_005267767.1  

    See identical proteins and their annotated locations for XP_005267767.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  7. XM_005267708.3XP_005267765.1  

    See identical proteins and their annotated locations for XP_005267765.1

    UniProtKB/Swiss-Prot
    P54845
    Conserved Domains (2) summary
    pfam08383
    Location:67102
    Maf_N; Maf N-terminal region
    cd14718
    Location:154223
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  8. XM_011536806.1XP_011535108.1  

    Conserved Domains (1) summary
    cd14718
    Location:82151
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  9. XM_011536801.1XP_011535103.1  

    Conserved Domains (2) summary
    pfam08383
    Location:100135
    Maf_N; Maf N-terminal region
    cd14718
    Location:187256
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    24547991..24552507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)