NRL (neural retina leucine zipper)

2019-04-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
D14S46E,NRL-MAF,RP27
FUSION GENES

Other Information

Locus ID:

NCBI: 4901
MIM: 162080
HGNC: 8002
Ensembl: ENSG00000129535

Variants:

dbSNP: 4901
ClinVar: 4901
TCGA: ENSG00000129535
COSMIC: NRL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129535ENST00000396995P54845
ENSG00000129535ENST00000396997P54845
ENSG00000129535ENST00000397002P54845
ENSG00000129535ENST00000558280H0YNW2
ENSG00000129535ENST00000560550P54845
ENSG00000129535ENST00000561028P54845

Expression (GTEx)

0
1
2
3
4
5
6

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA283MAPK8GenePathwayassociated23922006
PA30621MAPK14GenePathwayassociated23922006

References

Pubmed IDYearTitleCitations
114771082001Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.52
154599732004Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.36
155911062004Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.33
150015702004Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.26
168549892006Retinoic acid regulates the expression of photoreceptor transcription factor NRL.22
118791422002Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.18
205513222010Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.16
125663832003Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.15
153283442004The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.15
173350012007Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.15

Citation

Dessen P

NRL (neural retina leucine zipper)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57947/nrl