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Aliases for NRL Gene

Aliases for NRL Gene

  • Neural Retina Leucine Zipper 2 3
  • D14S46E 3 4 6
  • RP27 3 6
  • Neural Retina-Specific Leucine Zipper Protein 3
  • Neural Retinal-Specific Leucine Zipper 3
  • NRL-MAF 3

External Ids for NRL Gene

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 nrl-related retinitis pigmentosa. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and leucine zipper domain 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

Genomic Location for NRL Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRL Gene

Regulatory Elements 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 for NRL Gene

Suggested Antigen Peptide Sequences for NRL Gene

Graphical View of Domain Structure for InterPro Entry

P54845

UniProtKB/Swiss-Prot:

NRL_HUMAN
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.:
    • P54845
  • Contains 1 bZIP (basic-leucine zipper) domain.:
    • P54845
Family:
  • Belongs to the bZIP family.:
    • P54845
genes like me logo Genes that share domains with NRL: view

No data available for Gene Families for NRL Gene

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 8552602
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 8552602
GO:0003677 DNA binding TAS 1729696
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding IPI 10887186
genes like me logo Genes that share ontologies with NRL: view

Phenotypes for NRL Gene

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

Animal Models for NRL Gene

MGI Knock Outs for NRL:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for NRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NRL: view

Pathways 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:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 8939891
GO:0007468 regulation of rhodopsin gene expression TAS 8939891
GO:0007601 visual perception IEA --
GO:0045872 positive regulation of rhodopsin gene expression IEA --
genes like me logo Genes that share ontologies with NRL: view

Compounds for NRL Gene

(1) Novoseek inferred chemical compound relationships for NRL Gene

Compound -log(P) Hits PubMed IDs
leucine 59.7 9
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

Integrated Proteomics: protein expression 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 expressions with NRL: view

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 35
  • 99.58 (n)
  • 100 (a)
NRL 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia NRL 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrl 35
  • 86.64 (n)
  • 90.3 (a)
lizard
(Anolis carolinensis)
Reptilia NRL 36
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia l-maf-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nrl 35
  • 62.81 (n)
  • 64.44 (a)
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

Selected 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 MAF
rs3560 -- 24,081,123(-) CCACG(A/C)CCTGT utr-variant-3-prime
rs3561 -- 24,081,015(-) ACACA(A/G)AAACC utr-variant-3-prime
rs743271 -- 24,079,358(-) CCTTC(C/T)GGGAG utr-variant-3-prime
rs762088 -- 24,079,150(-) CTCCT(C/G)GGTTA utr-variant-3-prime
rs971495 -- 24,107,976(-) tatgt(C/T)taaat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516023 CNV Loss 19592680

Relevant External Links for NRL Gene

HapMap Linkage Disequilibrium report
NRL
Human Gene Mutation Database (HGMD)
NRL
Locus Specific Mutation Databases (LSDB)
NRL

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

Disorders for NRL Gene

(1) OMIM Diseases for NRL Gene (162080)

UniProtKB/Swiss-Prot

NRL_HUMAN
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for NRL Gene

(6) Novoseek inferred disease relationships for NRL Gene

Disease -log(P) Hits PubMed IDs
enhanced s-cone syndrome 93.3 1
retinitis pigmentosa 79.9 9
lebers congenital amaurosis 78.2 2
retinal degeneration 75.1 3
retinopathy 62.1 4

Relevant External Links for NRL

Genetic Association Database (GAD)
NRL
Human Genome Epidemiology (HuGE) Navigator
NRL
genes like me logo Genes that share disorders with NRL: view

Publications for NRL Gene

  1. 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
  2. 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 23
  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 23
  4. 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 48
  5. 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

Products for NRL Gene

Sources for NRL Gene

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