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Nrl
Gene Detail
Symbol

Name
ID
Nrl
neural retina leucine zipper gene
MGI:102567
Feature Type
protein coding gene
Genetic Map
Chromosome 14
28.19 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr14:55518978-55524965 bp, - strand
From NCBI annotation of GRCm38

  5988 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4501  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: maf transforming protein
Gene Tree: Nrl

Human
homologs
Human Homolog NRL, neural retina leucine zipper
NCBI Gene ID 4901
neXtProt AC  NX_P54845
Human Synonyms  D14S46E, NRL-MAF, RP27
Human Chr (Location)  14q11.1-q11.2; chr14:24078693-24114724 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NRL
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
 
Homozygotes for a targeted null mutation exhibit a retinal defect causing loss of rod function, exaggerated cone function, short, sparse outer segments, and abnormal disks.
 
Alleles Annotated to Human Diseases(1)    Phenotype Images(4)
Interactions
Nrl interacts with 176 markers (Mir10b, Mir17, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process multicellular organismal development, positive regulation of rhodopsin gene expression, ...
Component nucleus
Function DNA binding, leucine zipper domain binding, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (62)    Tissues (20)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 16
Western blot 12
RT-PCR 34
cDNA source data(50)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) Genomic(1) cDNA(51) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000040632 (Evidence)
Entrez Gene18185 (Evidence)
UniGene20422
DFCITC1580856, TC1621853
DoTSDT.101351837, DT.40167195, DT.99678553
NIA Mouse Gene IndexU035574
Consensus CDS ProjectCCDS27113.1
International Mouse Knockout Project StatusNrl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18185 NCBI Gene Model | MGI Sequence Detail 5988 C57BL/6J ±  kb
transcript NM_001271916 RefSeq | MGI Sequence Detail 2504 C57BL/6 
polypeptide P54846 UniProt | EBI | MGI Sequence Detail 237 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(10) UniProt(3)
Polymorphisms
PCR(1) : SNPs within 2kb(15 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004827 Basic-leucine zipper domain
InterPro IPR004826 Basic leucine zipper domain, Maf-type
InterPro IPR008917 Eukaryotic transcription factor, Skn-1-like, DNA-binding
InterPro IPR013592 Maf transcription factor, N-terminal
InterPro IPR024874 Transcription factor Maf
Protein Ontology PR:000011432 neural retina-specific leucine zipper protein
Graphical View of Protein Domain Structure
References
(Earliest) J:19401 Swaroop A, et al., A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):266-70
(Latest) J:210488 Conley SM, et al., Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS. Hum Mol Genet. 2014 Jun 15;23(12):3102-14
All references(105)
Other
accession IDs
MGD-MRK-19449, MGD-MRK-3718, MGI:2145817

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory