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 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; chr14:24549316-24553832 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NRL

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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.

 

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: (16 records)
Data Summary: Results (62)    Tissues (16)    Images (25)
Theiler Stages: 15, 17, 19, 20, 21, 22, 24, 26, 28

Assay Type	Results
RNA in situ	16
Western blot	12
RT-PCR	34

cDNA source data(71)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(76) Genomic(1) cDNA(72) Primer pair(3)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000040632 (Evidence)
Entrez Gene	18185 (Evidence)
UniGene	20422
DFCI	TC1580856, TC1621853
DoTS	DT.101351837, DT.40167195, DT.99678553
NIA Mouse Gene Index	U035574
Consensus CDS Project	CCDS27113.1
International Mouse Knockout Project Status	Nrl

Sequences

Length	Strain/Species
genomic	18185	NCBI Gene Model | MGI Sequence Detail	5988	C57BL/6J
transcript	NM_001271916	RefSeq | MGI Sequence Detail	2504	C57BL/6
polypeptide	P54846	UniProt | EBI | MGI Sequence Detail	237	Not Applicable

All sequences(33) RefSeq(8) UniProt(3)

Polymorphisms

PCR(1) : SNPs(2 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:186920 Stuck MW, et al., Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina. PLoS One. 2012;7(3):e32484
All references(95)

Other accession IDs

MGD-MRK-19449, MGD-MRK-3718, MGI:2145817