ENSMUSG00000040632


Mus musculus

Features
Gene ID: ENSMUSG00000040632
  
Biological name :Nrl
  
Synonyms : Neural retina-specific leucine zipper protein / Nrl / P54846
  
Possible biological names infered from orthology : neural retina leucine zipper / P54845
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: C3
Gene start: 55518978
Gene end: 55524981
  
Corresponding Affymetrix probe sets: 10420013 (MoGene1.0st)   1450946_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000136445
Ensembl peptide - ENSMUSP00000153933
Ensembl peptide - ENSMUSP00000154322
Ensembl peptide - ENSMUSP00000107035
Ensembl peptide - ENSMUSP00000054457
NCBI entrez gene - 18185     See in Manteia.
MGI - MGI:102567
RefSeq - NM_001271916
RefSeq - NM_001136074
RefSeq - NM_001271917
RefSeq - NM_008736
RefSeq Peptide - NP_001129546
RefSeq Peptide - NP_001258845
RefSeq Peptide - NP_001258846
RefSeq Peptide - NP_032762
swissprot - P54846
swissprot - Q543Y0
Ensembl - ENSMUSG00000040632
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nrlENSDARG00000100466Danio rerio
 NRLENSG00000129535Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Maf / P54843 / Transcription factor Maf / O75444* / MAF bZIP transcription factor*ENSMUSG0000005543552
Mafb / P54841 / Transcription factor MafB / Q9Y5Q3* / MAF bZIP transcription factor B*ENSMUSG0000007462252
Mafa / Q8CF90 / Transcription factor MafA / Q8NHW3* / MAF bZIP transcription factor A*ENSMUSG0000004759152
Maff / O54791 / Transcription factor MafF / Q9ULX9* / MAF bZIP transcription factor F*ENSMUSG0000004262224
Mafk / Q61827 / v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian) / O60675* / MAF bZIP transcription factor K*ENSMUSG0000001814323
Mafg / O54790 / Transcription factor MafG / O15525* / MAF bZIP transcription factor G*ENSMUSG0000005151022


Protein motifs (from Interpro)
Interpro ID Name
 IPR004826  Basic leucine zipper domain, Maf-type
 IPR004827  Basic-leucine zipper domain
 IPR008917  Transcription factor, Skn-1-like, DNA-binding domain superfamily
 IPR013592  Maf transcription factor, N-terminal
 IPR024874  Transcription factor Maf family
 IPR028575  Neural retina-specific leucine zipper protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007468 regulation of rhodopsin gene expression IMP
 biological_processGO:0045872 positive regulation of rhodopsin gene expression IGI
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0046548 retinal rod cell development IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol ISO
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IMP
 molecular_functionGO:0003713 transcription coactivator activity ISO
 molecular_functionGO:0043522 leucine zipper domain binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding ISS
 molecular_functionGO:1990841 promoter-specific chromatin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Grk1tm1Citb/Grk1tm1Citb,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Nrltm1Jcco/Nrltm1Jcco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Nrltm1.1Jcco/Nrltm1.1Jcco
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001006 abnormal cone morphology "structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Asnstm1a(EUCOMM)Wtsi/Asns+
Genetic Background: C57BL/6N-Asnstm1a(EUCOMM)Wtsi

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

Allelic Composition: Nrltm1Jcco/Nrltm1Jcco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Nrltm1.1Jcco/Nrltm1.1Jcco
Genetic Background: involves: C57BL/6 * CBA

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Nrltm1.1Jcco/Nrltm1.1Jcco
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Cep290rd16/Cep290rd16,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

Allelic Composition: Nrltm1Jcco/Nrltm1Jcco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tex19.1tm2.2Ics/Tex19.1tm2.2Ics,Tex19.2tm1.2Ics/Tex19.2tm1.2Ics
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gucy2etm1Gar/Gucy2etm1Gar,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0008445 increased retinal cone cell number "greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100]
Show

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cep290rd16/Cep290rd16,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008454 absent retinal rod cells "absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
Show

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gucy2etm1Gar/Gucy2etm1Gar,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nrltm1.1(Thrb)Df/Nrltm1.1(Thrb)Df
Genetic Background: involves: C57BL/6

 MP:0009619 abnormal optokinetic reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gucy2etm1Gar/Gucy2etm1Gar,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
Show

Allelic Composition: Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gucy2etm1Gar/Gucy2etm1Gar,Nrltm1Asw/Nrltm1Asw
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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