Property Summary

NCBI Gene PubMed Count 31
Grant Count 173
R01 Count 81
Funding $25,209,980.28
PubMed Score 267.93
PubTator Score 110.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.500 0.047
group 3 medulloblastoma 3.600 0.000

Synonym

Accession P54845 A8MX14 Q53XD0 NRL
Symbols RP27
D14S46E
NRL-MAF

Gene

NRL

PANTHER Protein Class (1)

Gene RIF (18)

PMID Text
27081294 The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family.
23534816 In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation.
21981118 This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa.
20801516 Observational study of genetic testing. (HuGE Navigator)
20551322 Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis.
19933183 In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP.
19933183 Observational study of gene-disease association. (HuGE Navigator)
17335001 Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity.
16854989 signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination
15591106 an unusual clinical phenotype in humans with loss-of-function mutations in NRL
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AA Sequence

MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLE      1 - 70
ELYWLATLQQQLGAGEALGLSPEEAMELLQGQGPVPVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSM     71 - 140
SVRELNRQLRGCGRDEALRLKQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLAR    141 - 210
ERDLYKARCDRLTSSGPGSGDPSHLFL                                               211 - 237
//

Text Mined References (32)

PMID Year Title
27081294 2016 Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
23956131 2014 Interaction between optineurin and the bZIP transcription factor NRL.
23534816 2013 Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
22334370 2012 Next-generation genetic testing for retinitis pigmentosa.
21981118 2012 Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20551322 2010 Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.
19933183 2010 Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
17335001 2007 Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
More...