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Q9QXZ7

- NR2E3_MOUSE

UniProt

Q9QXZ7 - NR2E3_MOUSE

Protein

Photoreceptor-specific nuclear receptor

Gene

Nr2e3

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.4 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi37 – 11377Nuclear receptorPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri40 – 6021NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri76 – 10126NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: InterPro
    2. protein binding Source: MGI
    3. sequence-specific DNA binding Source: InterPro
    4. sequence-specific DNA binding transcription factor activity Source: MGI
    5. steroid hormone receptor activity Source: InterPro
    6. zinc ion binding Source: InterPro

    GO - Biological processi

    1. eye photoreceptor cell development Source: MGI
    2. negative regulation of cell proliferation Source: MGI
    3. negative regulation of transcription from RNA polymerase II promoter Source: MGI
    4. positive regulation of rhodopsin gene expression Source: MGI
    5. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    6. retina development in camera-type eye Source: MGI

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Photoreceptor-specific nuclear receptor
    Alternative name(s):
    Nuclear receptor subfamily 2 group E member 3
    Retina-specific nuclear receptor
    Gene namesi
    Name:Nr2e3
    Synonyms:Pnr, Rnr
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 9

    Organism-specific databases

    MGIiMGI:1346317. Nr2e3.

    Subcellular locationi

    Nucleus 2 PublicationsPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: MGI
    2. transcription factor complex Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Defects in Nr2e3 are the cause of the retinal degeneration type 7 (Rd7) phenotype characterized by excessive blue cones and loss of rods.2 Publications

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi178 – 1781K → R: Greatly reduced levels of PIAS3-mediated sumoylation. Completely abolishes sumoylation; when associated with R-315 and R-322. 1 Publication
    Mutagenesisi315 – 3151K → R: Little change in sumoylation. Completely abolishes sumoylation; when associated with R-178 and R-322. 1 Publication
    Mutagenesisi322 – 3221K → R: Little change in sumoylation. Completely abolishes sumoylation; when associated with R-178 and R-315. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 395395Photoreceptor-specific nuclear receptorPRO_0000053600Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki178 – 178Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Cross-linki315 – 315Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Modified residuei318 – 3181PhosphothreonineBy similarity
    Cross-linki322 – 322Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

    Post-translational modificationi

    Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-178 appears to be the main site.1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PRIDEiQ9QXZ7.

    PTM databases

    PhosphoSiteiQ9QXZ7.

    Expressioni

    Tissue specificityi

    Retina. Rod-specific. Expressed in the outer nuclear lyer of the mature retina.5 Publications

    Developmental stagei

    Expression found as early as E18 in developing retina. From P3 to P6, expression increases in developing rods. Expression, thereafter, in the future inner nuclear layer migrating to the final destination of the outer nuclear layer. In the mature retina, exclusively expressed in rods.1 Publication

    Gene expression databases

    BgeeiQ9QXZ7.
    CleanExiMM_NR2E3.
    GenevestigatoriQ9QXZ7.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with PIAS3; the interaction sumoylates NR2E3 and promotes repression of cone-specific gene transcription and activation of rod-specific genes. Component of a rod photoreceptor complex that includes NR2E3, PIAS3, NRL, CRX and/or NR1D1. Binds direcly in the complex with CRX, PIAS3 and NR1D1 By similarity. Interacts (via the DNA-binding domain) with CRX (via its DNA binding domain); the interaction represses S- and M-cone opsin expression.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi204819. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9QXZ7.
    SMRiQ9QXZ7. Positions 38-395.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi356 – 3605Poly-Leu

    Sequence similaritiesi

    Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri40 – 6021NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri76 – 10126NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG277339.
    GeneTreeiENSGT00720000108595.
    HOGENOMiHOG000260820.
    HOVERGENiHBG005606.
    InParanoidiQ9QXZ7.
    KOiK08546.
    OMAiMLSQHTK.
    OrthoDBiEOG7WT41C.
    PhylomeDBiQ9QXZ7.
    TreeFamiTF315716.

    Family and domain databases

    Gene3Di1.10.565.10. 2 hits.
    3.30.50.10. 1 hit.
    InterProiIPR003068. COUP_TF.
    IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR001723. Str_hrmn_rcpt.
    IPR001628. Znf_hrmn_rcpt.
    IPR013088. Znf_NHR/GATA.
    [Graphical view]
    PfamiPF00104. Hormone_recep. 1 hit.
    PF00105. zf-C4. 1 hit.
    [Graphical view]
    PRINTSiPR01282. COUPTNFACTOR.
    PR00398. STRDHORMONER.
    PR00047. STROIDFINGER.
    SMARTiSM00430. HOLI. 1 hit.
    SM00399. ZnF_C4. 1 hit.
    [Graphical view]
    SUPFAMiSSF48508. SSF48508. 2 hits.
    PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
    PS51030. NUCLEAR_REC_DBD_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9QXZ7-1 [UniParc]FASTAAdd to Basket

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    MSSTVAASTM PVSVAASKKE SPGRWGLGED PTGVGPSLQC RVCGDSSSGK    50
    HYGIYACNGC SGFFKRSVRR RLIYRCQVGA GMCPVDKAHR NQCQACRLKK 100
    CLQAGMNQDA VQNERQPRSM AQVHLDAMET GSDPRSEPVV ASPALAGPSP 150
    RGPTSVSATR AMGHHFMASL ITAETCAKLE PEDAEENIDV TSNDPEFPAS 200
    PCSLDGIHET SARLLFMAVK WAKNLPVFSN LPFRDQVILL EEAWNELFLL 250
    GAIQWSLPLD SCPLLAPPEA SGSSQGRLAL ASAETRFLQE TISRFRALAV 300
    DPTEFACLKA LVLFKPETRG LKDPEHVEAL QDQSQVMLSQ HSKAHHPSQP 350
    VRFGKLLLLL PSLRFLTAER IELLFFRKTI GNTPMEKLLC DMFKN 395
    Length:395
    Mass (Da):43,177
    Last modified:May 1, 2000 - v1
    Checksum:iD8E391CF24919A68
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF148129 mRNA. Translation: AAF22228.1.
    AF204053 mRNA. Translation: AAF69682.1.
    BC017521 mRNA. Translation: AAH17521.1.
    CCDSiCCDS23255.1.
    RefSeqiNP_038736.1. NM_013708.4.
    UniGeneiMm.103641.

    Genome annotation databases

    EnsembliENSMUST00000034831; ENSMUSP00000034831; ENSMUSG00000032292.
    GeneIDi23958.
    KEGGimmu:23958.
    UCSCiuc009pyu.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF148129 mRNA. Translation: AAF22228.1 .
    AF204053 mRNA. Translation: AAF69682.1 .
    BC017521 mRNA. Translation: AAH17521.1 .
    CCDSi CCDS23255.1.
    RefSeqi NP_038736.1. NM_013708.4.
    UniGenei Mm.103641.

    3D structure databases

    ProteinModelPortali Q9QXZ7.
    SMRi Q9QXZ7. Positions 38-395.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 204819. 1 interaction.

    PTM databases

    PhosphoSitei Q9QXZ7.

    Proteomic databases

    PRIDEi Q9QXZ7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000034831 ; ENSMUSP00000034831 ; ENSMUSG00000032292 .
    GeneIDi 23958.
    KEGGi mmu:23958.
    UCSCi uc009pyu.1. mouse.

    Organism-specific databases

    CTDi 10002.
    MGIi MGI:1346317. Nr2e3.

    Phylogenomic databases

    eggNOGi NOG277339.
    GeneTreei ENSGT00720000108595.
    HOGENOMi HOG000260820.
    HOVERGENi HBG005606.
    InParanoidi Q9QXZ7.
    KOi K08546.
    OMAi MLSQHTK.
    OrthoDBi EOG7WT41C.
    PhylomeDBi Q9QXZ7.
    TreeFami TF315716.

    Miscellaneous databases

    NextBioi 303796.
    PROi Q9QXZ7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9QXZ7.
    CleanExi MM_NR2E3.
    Genevestigatori Q9QXZ7.

    Family and domain databases

    Gene3Di 1.10.565.10. 2 hits.
    3.30.50.10. 1 hit.
    InterProi IPR003068. COUP_TF.
    IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR001723. Str_hrmn_rcpt.
    IPR001628. Znf_hrmn_rcpt.
    IPR013088. Znf_NHR/GATA.
    [Graphical view ]
    Pfami PF00104. Hormone_recep. 1 hit.
    PF00105. zf-C4. 1 hit.
    [Graphical view ]
    PRINTSi PR01282. COUPTNFACTOR.
    PR00398. STRDHORMONER.
    PR00047. STROIDFINGER.
    SMARTi SM00430. HOLI. 1 hit.
    SM00399. ZnF_C4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48508. SSF48508. 2 hits.
    PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
    PS51030. NUCLEAR_REC_DBD_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells."
      Chen F., Figueroa D.J., Marmorstein A.D., Zhang Q., Petrukhin K., Caskey C.T., Austin C.P.
      Proc. Natl. Acad. Sci. U.S.A. 96:15149-15154(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Retina.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
      Strain: C57BL/6J.
      Tissue: Retina.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye.
    4. "Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors."
      Cheng H., Khanna H., Oh E.C., Hicks D., Mitton K.P., Swaroop A.
      Hum. Mol. Genet. 13:1563-1575(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    5. "The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes."
      Chen J., Rattner A., Nathans J.
      J. Neurosci. 25:118-129(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
    6. "Pias3-dependent SUMOylation directs rod photoreceptor development."
      Onishi A., Peng G.-H., Hsu C., Alexis U., Chen S., Blackshaw S.
      Neuron 61:234-246(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-178, INTERACTION WITH CRX AND PIAS3, FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-178; LYS-315 AND LYS-322.
    7. "Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina."
      Mollema N.J., Yuan Y., Jelcick A.S., Sachs A.J., von Alpen D., Schorderet D., Escher P., Haider N.B.
      PLoS ONE 6:E17494-E17494(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiNR2E3_MOUSE
    AccessioniPrimary (citable) accession number: Q9QXZ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3