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Aliases for NRL Gene

Aliases for NRL Gene

  • Neural Retina Leucine Zipper 2 3 5
  • D14S46E 3 4
  • Neural Retinal-Specific Leucine Zipper 3
  • NRL-MAF 3
  • RP27 3

External Ids for NRL Gene

Previous GeneCards Identifiers for NRL Gene

  • GC14M021921
  • GC14M018336
  • GC14M022539
  • GC14M023619
  • GC14M024549
  • GC14M004664

Summaries for NRL Gene

Entrez Gene Summary for NRL Gene

  • This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]

GeneCards Summary for NRL Gene

NRL (Neural Retina Leucine Zipper) is a Protein Coding gene. Diseases associated with NRL include Retinitis Pigmentosa 27 and Retinal Degeneration Autosomal Recessive Clumped Pigment Type. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is MAFA.

UniProtKB/Swiss-Prot for NRL Gene

  • Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B.

Gene Wiki entry for NRL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRL Gene

Genomics for NRL Gene

Regulatory Elements for NRL Gene

Enhancers for NRL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NRL on UCSC Golden Path with GeneCards custom track

Promoters for NRL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NRL on UCSC Golden Path with GeneCards custom track

Genomic Location for NRL Gene

Chromosome:
14
Start:
24,078,693 bp from pter
End:
24,115,014 bp from pter
Size:
36,322 bases
Orientation:
Minus strand

Genomic View for NRL Gene

Genes around NRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRL Gene

Proteins for NRL Gene

  • Protein details for NRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54845-NRL_HUMAN
    Recommended name:
    Neural retina-specific leucine zipper protein
    Protein Accession:
    P54845
    Secondary Accessions:
    • A8MX14
    • Q53XD0

    Protein attributes for NRL Gene

    Size:
    237 amino acids
    Molecular mass:
    25940 Da
    Quaternary structure:
    • Interacts with FIZ1. This interaction represses transactivation (By similarity). Interacts (via the leucine-zipper domain) with CRX.

    Alternative splice isoforms for NRL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NRL Gene

Proteomics data for NRL Gene at MOPED

Post-translational modifications for NRL Gene

  • Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and is required for normal rod differentiation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NRL Gene

No data available for DME Specific Peptides for NRL Gene

Domains & Families for NRL Gene

Gene Families for NRL Gene

Suggested Antigen Peptide Sequences for NRL Gene

Graphical View of Domain Structure for InterPro Entry

P54845

UniProtKB/Swiss-Prot:

NRL_HUMAN :
  • The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate trancription by recruiting TBP and associated factors at the promoters of target genes.
  • Belongs to the bZIP family.
Domain:
  • The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate trancription by recruiting TBP and associated factors at the promoters of target genes.
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family.
genes like me logo Genes that share domains with NRL: view

Function for NRL Gene

Molecular function for NRL Gene

GENATLAS Biochemistry:
neural retinal specific transcript,interacting with CRX,regulating the expression of rhodopsin and other retinal genes,small MAF protein family
UniProtKB/Swiss-Prot Function:
Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B.

Gene Ontology (GO) - Molecular Function for NRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,TAS 1729696
GO:0043522 leucine zipper domain binding IPI 10887186
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NRL: view
genes like me logo Genes that share phenotypes with NRL: view

Human Phenotype Ontology for NRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NRL Gene

MGI Knock Outs for NRL:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NRL Gene

Localization for NRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRL Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NRL Gene COMPARTMENTS Subcellular localization image for NRL gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for NRL Gene

Pathways & Interactions for NRL Gene

genes like me logo Genes that share pathways with NRL: view

Pathways by source for NRL Gene

1 PharmGKB pathway for NRL Gene

Gene Ontology (GO) - Biological Process for NRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045872 positive regulation of rhodopsin gene expression IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 8552602
genes like me logo Genes that share ontologies with NRL: view

No data available for SIGNOR curated interactions for NRL Gene

Drugs & Compounds for NRL Gene

(1) Drugs for NRL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NRL: view

Transcripts for NRL Gene

Unigene Clusters for NRL Gene

Neural retina leucine zipper:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NRL Gene

No ASD Table

Relevant External Links for NRL Gene

GeneLoc Exon Structure for
NRL
ECgene alternative splicing isoforms for
NRL

Expression for NRL Gene

mRNA expression in normal human tissues for NRL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NRL Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NRL Gene



SOURCE GeneReport for Unigene cluster for NRL Gene Hs.652297

mRNA Expression by UniProt/SwissProt for NRL Gene

P54845-NRL_HUMAN
Tissue specificity: Neural retina.
genes like me logo Genes that share expression patterns with NRL: view

Protein tissue co-expression partners for NRL Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for NRL Gene

Orthologs for NRL Gene

This gene was present in the common ancestor of animals.

Orthologs for NRL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NRL 35
  • 92.69 (n)
  • 93.86 (a)
NRL 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NRL 35
  • 92.55 (n)
  • 93.67 (a)
NRL 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrl 35
  • 86.08 (n)
  • 89.45 (a)
Nrl 16
Nrl 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NRL 35
  • 99.58 (n)
  • 100 (a)
NRL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrl 35
  • 86.64 (n)
  • 90.3 (a)
oppossum
(Monodelphis domestica)
Mammalia NRL 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NRL 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrl 35
  • 62.81 (n)
  • 64.44 (a)
African clawed frog
(Xenopus laevis)
Amphibia l-maf-A 35
zebrafish
(Danio rerio)
Actinopterygii nrl 35
  • 66.17 (n)
  • 62.5 (a)
nrl 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tj 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
Species with no ortholog for NRL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NRL Gene

ENSEMBL:
Gene Tree for NRL (if available)
TreeFam:
Gene Tree for NRL (if available)

Paralogs for NRL Gene

Paralogs for NRL Gene

(6) SIMAP similar genes for NRL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NRL: view

Variants for NRL Gene

Sequence variations from dbSNP and Humsavar for NRL Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_009268 Retinitis pigmentosa 27 (RP27)
VAR_064977 Retinal degeneration autosomal recessive clumped pigment type (RDCP)
VAR_068364 Retinitis pigmentosa 27 (RP27)
rs8017873 -- 24,107,089(+) TTAAA(A/C)GGAAC intron-variant
rs7143874 -- 24,105,189(+) GCAGG(A/G)GCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NRL Gene

Variant ID Type Subtype PubMed ID
nsv516023 CNV Loss 19592680

Variation tolerance for NRL Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NRL Gene

Human Gene Mutation Database (HGMD)
NRL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRL Gene

Disorders for NRL Gene

MalaCards: The human disease database

(12) MalaCards diseases for NRL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 27
  • rp27
retinal degeneration autosomal recessive clumped pigment type
  • clumped pigmentary retinal degeneration
nrl-related retinitis pigmentosa
  • retinitis pigmentosa 27
retinitis pigmentosa
  • retinitis pigmentosa 1
retinal degeneration
  • degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search NRL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NRL_HUMAN
  • Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080]: A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. {ECO:0000269 PubMed:15591106}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 27 (RP27) [MIM:613750]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10192380, ECO:0000269 PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NRL

Genetic Association Database (GAD)
NRL
Human Genome Epidemiology (HuGE) Navigator
NRL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NRL
genes like me logo Genes that share disorders with NRL: view

No data available for Genatlas for NRL Gene

Publications for NRL Gene

  1. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (PMID: 10192380) Bessant D.A.R. … Bhattacharya S.S. (Nat. Genet. 1999) 2 3 4 67
  2. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. (PMID: 1427865) Yang-Feng T.L. … Swaroop A. (Genomics 1992) 2 3 23
  3. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. (PMID: 19933183) Yang Y. … Pang C.P. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
  4. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. (PMID: 17335001) Kanda A. … Swaroop A. (Hum. Mutat. 2007) 3 23
  5. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (PMID: 15459973) Wright A.F. … Swaroop A. (Hum. Mutat. 2004) 3 23

Products for NRL Gene

Sources for NRL Gene

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