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NRL Gene(Protein Coding)

Neural Retina Leucine Zipper

GCID:
GC14M024078
GIFtS:
54
Genes Participants
UDN Logo

Aliases for NRL Gene

Aliases for NRL Gene

  • Neural Retina Leucine Zipper 2 3 5
  • D14S46E 3 4
  • Neural Retina-Specific Leucine Zipper Protein 3
  • 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRL Gene

Genomics for NRL Gene

Products:

  1. Regulatory Element

Regulatory Elements for NRL Gene

Enhancers for NRL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G024091 1.7 Ensembl ENCODE dbSUPER 11.4 +21.4 21368 6.5 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 RNA5SP383 KHNYN CARMIL3 C14orf119 NYNRIN NRL DCAF11 TM9SF1 IPO4 IRF9
GH14G024032 1.2 Ensembl ENCODE 10.9 +81.7 81680 1.0 PKNOX1 FOXA2 MLX ARID4B SIN3A TCF12 FOS KAT8 MIER3 GLIS1 DHRS4L2 DHRS4 PCK2 NRL PIR58946 DHRS4L1
GH14G024035 1.1 ENCODE 11.3 +78.4 78418 1.7 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF143 DHRS4L1 RNA5SP383 KHNYN C14orf119 LOC102724814 DHRS4L2 DHRS4 PCK2 NRL HOMEZ
GH14G024058 0.9 ENCODE 11.7 +56.5 56548 0.2 ELF3 ARID4B ZNF48 RAD21 RARA SLC30A9 ZNF143 ZNF207 MIXL1 DEK PCK2 NRL RNF31 PSME2 CARMIL3 LOC105370412
GH14G024086 0.4 FANTOM5 23.6 +28.3 28279 0.2 TEAD3 NRL CARMIL3 DCAF11 IRF9 IPO4 TM9SF1 TSSK4 PCK2 CPNE6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000066828 313 2600 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Transcription factor binding sites by QIAGEN in the NRL gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for NRL Gene

Proteins for NRL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for NRL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NRL

No data available for DME Specific Peptides for NRL Gene

Domains & Families for NRL Gene

Gene Families for NRL Gene

HGNC:

Protein Domains for NRL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NRL Gene

GenScript: Design optimal peptide antigens:

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 transcription 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 transcription by recruiting TBP and associated factors at the promoters of target genes.
Family:
  • Belongs to the bZIP family.
genes like me logo Genes that share domains with NRL: view

Function for NRL Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 8552602
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 8552602
GO:0003677 DNA binding TAS 1729696
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 10887186
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NRL gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 8939891
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NRL: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 8939891
GO:0007275 multicellular organism development IEA --
GO:0007468 regulation of rhodopsin gene expression IEA,TAS 8939891
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NRL Gene

(10) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NRL Gene

Neural retina leucine zipper:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NRL Gene

mRNA expression in normal human tissues for NRL Gene
mRNA expression by BioGPS for NRL GenemRNA expression by GTEx 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



Protein tissue co-expression partners for NRL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NRL Gene:

NRL

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.

Evidence on tissue expression from TISSUES for NRL Gene

  • Eye(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NRL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with NRL: view

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
chimpanzee
(Pan troglodytes)
 Mammalia NRL 34 35
  • 99.58 (n)
cow
(Bos Taurus)
 Mammalia NRL 34 35
  • 92.69 (n)
dog
(Canis familiaris)
 Mammalia NRL 34 35
  • 92.55 (n)
rat
(Rattus norvegicus)
 Mammalia Nrl 34
  • 86.64 (n)
mouse
(Mus musculus)
 Mammalia Nrl 34 16 35
  • 86.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia NRL 35
  • 63 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NRL 35
  • 50 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia nrl 34
  • 62.81 (n)
African clawed frog
(Xenopus laevis)
 Amphibia l-maf-A 34
zebrafish
(Danio rerio)
 Actinopterygii nrl 35 34
  • 66.17 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta tj 35
  • 17 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea maf-1 35
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 21 (a)
 ManyToMany
Species where no ortholog for NRL was found in the sources mined by GeneCards:
  • 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
rs104894459 Pathogenic, Retinitis pigmentosa 27 (RP27) [MIM:613750] 24,082,701(-) CTCCT(A/T)CACCC intron-variant, reference, missense
rs104894463 Pathogenic, Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080] 24,081,471(-) GCGGC(C/T)GAAGC reference, missense
VAR_068364 Retinitis pigmentosa 27 (RP27) [MIM:613750]
rs397514516 Pathogenic 24,082,562(-) GGCCA(C/T)GGAGC intron-variant, reference, missense
rs762991211 Pathogenic 24,082,758(+) AGGTC(A/G)GCCCT intron-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv1036658 CNV loss 25217958
nsv1052180 CNV loss 25217958
nsv516023 CNV loss 19592680
nsv564057 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRL

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

Disorders for NRL Gene

MalaCards: The human disease database

(13) 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
enhanced s-cone syndrome
  • goldmann-favre syndrome
nrl-related retinitis pigmentosa
  • rp27
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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. 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 22 46 64
  2. 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 64
  3. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. (PMID: 9344665) Farjo Q. … Swaroop A. (Genomics 1997) 3 4 22 64
  4. 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 22 64
  5. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. (PMID: 1729696) Swaroop A. … Agarwal N. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64

Products for NRL Gene

Sources for NRL Gene

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