Details for: NRL

Gene ID: 4901

Symbol: NRL

Ensembl ID: ENSG00000129535

Description: neural retina leucine zipper

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 30.0234
    Cell Significance Index: -4.6700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 19.0819
    Cell Significance Index: -4.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.6657
    Cell Significance Index: 735.2500
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 5.4489
    Cell Significance Index: 76.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.0066
    Cell Significance Index: -4.9400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 2.9198
    Cell Significance Index: 25.7200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.8371
    Cell Significance Index: 14.1600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.7059
    Cell Significance Index: -4.5700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.3616
    Cell Significance Index: -2.9800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0460
    Cell Significance Index: 199.0700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7946
    Cell Significance Index: 9.8600
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.6897
    Cell Significance Index: 8.3600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5781
    Cell Significance Index: 15.4900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5483
    Cell Significance Index: 54.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4944
    Cell Significance Index: 98.1200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4892
    Cell Significance Index: 441.7600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4876
    Cell Significance Index: 29.2700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4180
    Cell Significance Index: 45.4700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.3784
    Cell Significance Index: 6.0000
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.3601
    Cell Significance Index: 4.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3359
    Cell Significance Index: 18.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3158
    Cell Significance Index: 16.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3128
    Cell Significance Index: 50.8700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.3063
    Cell Significance Index: 3.8700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.2870
    Cell Significance Index: 4.7300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2517
    Cell Significance Index: 3.0000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2285
    Cell Significance Index: 15.8000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1396
    Cell Significance Index: 3.7400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1388
    Cell Significance Index: 4.0000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1242
    Cell Significance Index: 2.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1066
    Cell Significance Index: 15.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0895
    Cell Significance Index: 17.9500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0871
    Cell Significance Index: 5.6200
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0770
    Cell Significance Index: 0.8700
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.0741
    Cell Significance Index: 0.9200
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.0735
    Cell Significance Index: 0.9200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0672
    Cell Significance Index: 24.1100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0539
    Cell Significance Index: 9.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0410
    Cell Significance Index: 4.8300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0381
    Cell Significance Index: 1.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0372
    Cell Significance Index: 4.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0307
    Cell Significance Index: 1.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0272
    Cell Significance Index: 2.0900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0156
    Cell Significance Index: 0.2300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0154
    Cell Significance Index: 0.6800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0152
    Cell Significance Index: 6.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0149
    Cell Significance Index: 1.8400
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0104
    Cell Significance Index: 0.0800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0084
    Cell Significance Index: 0.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0079
    Cell Significance Index: 0.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0076
    Cell Significance Index: 14.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0074
    Cell Significance Index: 4.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0071
    Cell Significance Index: 13.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0056
    Cell Significance Index: 8.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0042
    Cell Significance Index: 5.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0030
    Cell Significance Index: 0.1400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0029
    Cell Significance Index: 0.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0028
    Cell Significance Index: 1.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0020
    Cell Significance Index: 0.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0005
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0023
    Cell Significance Index: -1.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0034
    Cell Significance Index: -2.4900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0036
    Cell Significance Index: -2.7100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0044
    Cell Significance Index: -1.9800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0045
    Cell Significance Index: -2.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0060
    Cell Significance Index: -0.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0061
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0066
    Cell Significance Index: -1.1300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0079
    Cell Significance Index: -0.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0095
    Cell Significance Index: -1.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0135
    Cell Significance Index: -3.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0178
    Cell Significance Index: -1.8200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0184
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0209
    Cell Significance Index: -4.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0210
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0216
    Cell Significance Index: -2.4700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0248
    Cell Significance Index: -1.2900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0255
    Cell Significance Index: -0.3300
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0263
    Cell Significance Index: -0.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0296
    Cell Significance Index: -3.8200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0316
    Cell Significance Index: -0.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0363
    Cell Significance Index: -2.7100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0419
    Cell Significance Index: -0.7100
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0424
    Cell Significance Index: -0.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0437
    Cell Significance Index: -4.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0478
    Cell Significance Index: -2.9300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0499
    Cell Significance Index: -0.7000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0547
    Cell Significance Index: -4.3400
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0556
    Cell Significance Index: -0.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0559
    Cell Significance Index: -3.9500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0584
    Cell Significance Index: -1.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0594
    Cell Significance Index: -0.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0601
    Cell Significance Index: -2.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0616
    Cell Significance Index: -2.1400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0616
    Cell Significance Index: -0.7900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0643
    Cell Significance Index: -0.9500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0703
    Cell Significance Index: -1.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0759
    Cell Significance Index: -2.4300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0809
    Cell Significance Index: -2.9700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0839
    Cell Significance Index: -1.7800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcription factor**: NRL is a DNA-binding transcription factor that regulates gene expression by binding to specific DNA sequences. 2. **Leucine zipper domain**: The gene encodes a leucine zipper domain, a characteristic feature of leucine zipper proteins, which allows for dimerization and DNA binding. 3. **High expression in retinal cells**: NRL is highly expressed in retinal rod cells, photoreceptors, and other cells involved in visual perception. 4. **Regulation of gene expression**: NRL regulates gene expression by binding to specific DNA sequences, influencing the transcription of target genes involved in visual development and function. **Pathways and Functions:** 1. **Visual development and function**: NRL plays a crucial role in the development and function of photoreceptor cells, regulating the expression of genes involved in visual processing. 2. **Gene regulation**: NRL regulates the expression of genes involved in visual development, including those involved in phototransduction, visual signal transmission, and retinal cell differentiation. 3. **Cell differentiation**: NRL is involved in the differentiation of retinal cells, including photoreceptors, bipolar cells, and other retinal cells. 4. **Response to stimulus**: NRL is involved in the response to visual stimuli, regulating the expression of genes involved in visual signal transmission and processing. **Clinical Significance:** 1. **Retinal diseases**: Mutations in the NRL gene have been associated with retinal diseases, including retinitis pigmentosa and cone-rod dystrophy. 2. **Visual impairment**: Dysregulation of NRL has been implicated in visual impairment and blindness, highlighting the importance of NRL in visual development and function. 3. **Therapeutic potential**: Understanding the role of NRL in visual development and function may lead to the development of new therapeutic strategies for retinal diseases and visual impairment. 4. **Genetic testing**: The NRL gene is a useful marker for genetic testing, allowing for the identification of individuals with mutations that may predispose them to retinal diseases. In conclusion, the NRL gene plays a crucial role in the development and function of the retina, particularly in photoreceptor cells. Understanding the mechanisms of NRL regulation and its clinical significance may lead to the development of new therapeutic strategies for retinal diseases and visual impairment.

Genular Protein ID: 2905047922

Symbol: NRL_HUMAN

Name: Neural retina-specific leucine zipper protein

UniProtKB Accession Codes:

P54845 A8MX14 Q53XD0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 15 Ensembl 10 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 7 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1729696

Title: A conserved retina-specific gene encodes a basic motif/leucine zipper domain.

PubMed ID: 1729696

DOI: 10.1073/pnas.89.1.266

PubMed ID: 9344665

Title: 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.

PubMed ID: 9344665

DOI: 10.1006/geno.1997.4964

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10887186

Title: The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

PubMed ID: 10887186

DOI: 10.1074/jbc.m003658200

PubMed ID: 11477108

Title: Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.

PubMed ID: 11477108

DOI: 10.1074/jbc.m105855200

PubMed ID: 15328344

Title: The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.

PubMed ID: 15328344

DOI: 10.1074/jbc.m408298200

PubMed ID: 10192380

Title: A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.

PubMed ID: 10192380

DOI: 10.1038/7678

PubMed ID: 11385710

Title: Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

PubMed ID: 11385710

DOI: 10.1002/humu.1135

PubMed ID: 11879142

Title: Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.

PubMed ID: 11879142

DOI: 10.1001/archopht.120.3.369

PubMed ID: 15591106

Title: Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

PubMed ID: 15591106

DOI: 10.1073/pnas.0408183101

PubMed ID: 15994872

Title: Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

PubMed ID: 15994872

DOI: 10.1136/jmg.2005.031682

PubMed ID: 22334370

Title: Next-generation genetic testing for retinitis pigmentosa.

PubMed ID: 22334370

DOI: 10.1002/humu.22045

PubMed ID: 17335001

Title: Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

PubMed ID: 17335001

DOI: 10.1002/humu.20488

PubMed ID: 21981118

Title: Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

PubMed ID: 21981118

DOI: 10.1111/j.1399-0004.2011.01796.x

Sequence Information:

  • Length: 237
  • Mass: 25940
  • Checksum: CCABEDC1C1123614
  • Sequence:
    • MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS PTFSEPGMVG 
ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ GQGPVPVDGP HGYYPGSPEE 
TGAQHVQLAE RFSDAALVSM SVRELNRQLR GCGRDEALRL KQRRRTLKNR GYAQACRSKR 
LQQRRGLEAE RARLAAQLDA LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.