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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
Chr14:55518978-55524981 bp, - strand
From NCBI annotation of GRCm38

  6004 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

HCOP human homology predictions: NRL
Protein SuperFamily: maf transforming protein
Gene Tree: Nrl

Human
homologs
NRL, neural retina leucine zipper
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4901
neXtProt AC: NX_P54845

Human Synonyms: D14S46E, NRL-MAF, RP27

Human Chr (Location): 14q11.1-q11.2; chr14:24078693-24114802 (-)  GRCh38.p2

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.
 
Mutations Annotated to Human Diseases (1)    Phenotype Images(4)
Interactions
Nrl interacts with 176 markers (Mir10b, Mir17, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 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: (18 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nrl ; ZFIN nrl    NEW 
Molecular
reagents
All nucleic(55) Genomic(1) cDNA(51) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000040632 (Evidence)
Entrez Gene 18185 (Evidence)
UniGene 20422
DFCI TC1621853, TC1580856
DoTS DT.99678553, DT.40167195, DT.101351837
NIA Mouse Gene Index U035574
Consensus CDS Project CCDS27113.1
International Mouse Phenotyping Consortium Status Nrl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18185 NCBI Gene Model | MGI Sequence Detail 6004 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:222061 Santos-Ferreira T, et al., Daylight vision repair by cell transplantation. Stem Cells. 2015 Jan;33(1):79-90
All references(108)
Disease annotation references (1)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory