Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9Y5X4

- NR2E3_HUMAN

UniProt

Q9Y5X4 - NR2E3_HUMAN

Protein

Photoreceptor-specific nuclear receptor

Gene

NR2E3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi44 – 12077Nuclear receptorPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri47 – 6721NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri83 – 10826NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. gene expression Source: Reactome
    2. intracellular receptor signaling pathway Source: GOC
    3. phototransduction Source: ProtInc
    4. signal transduction Source: ProtInc
    5. transcription from RNA polymerase II promoter Source: ProtInc
    6. transcription initiation from RNA polymerase II promoter Source: Reactome
    7. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Receptor, Repressor

    Keywords - Biological processi

    Sensory transduction, Transcription, Transcription regulation, Vision

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
    SignaLinkiQ9Y5X4.

    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:7974. NR2E3.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome
    2. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Enhanced S cone syndrome (ESCS) [MIM:268100]: Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 693Missing in ESCS.
    VAR_009265
    Natural varianti76 – 761R → Q in ESCS. 1 Publication
    VAR_009266
    Natural varianti76 – 761R → W in ESCS. 1 Publication
    VAR_009267
    Natural varianti88 – 881G → V in ESCS. 1 Publication
    VAR_020839
    Natural varianti97 – 971R → H in ESCS. 3 Publications
    VAR_010025
    Natural varianti104 – 1041R → Q Associated with ESCS. 1 Publication
    VAR_062769
    Natural varianti104 – 1041R → W in ESCS. 2 Publications
    VAR_010026
    Natural varianti121 – 1211E → K in ESCS. 1 Publication
    VAR_010027
    Natural varianti234 – 2341W → S in ESCS. 2 Publications
    VAR_010031
    Natural varianti256 – 2561A → E in ESCS. 2 Publications
    VAR_020840
    Natural varianti263 – 2631L → P in ESCS; impairs protein folding. 1 Publication
    VAR_020841
    Natural varianti309 – 3091R → G in ESCS; impairs protein folding and stability. 2 Publications
    VAR_010033
    Natural varianti311 – 3111R → Q in ESCS; impairs protein folding and stability and hinders the ability to form stable dimers. 6 Publications
    Corresponds to variant rs28937873 [ dbSNP | Ensembl ].
    VAR_010034
    Natural varianti334 – 3341R → G Associated with ESCS; impairs protein folding and stability. 1 Publication
    VAR_062772
    Natural varianti336 – 3361L → P in ESCS; impairs protein folding and stability. 1 Publication
    VAR_020842
    Natural varianti353 – 3531L → V in ESCS; impairs protein folding and stability. 1 Publication
    VAR_020843
    Natural varianti385 – 3851R → P in ESCS. 1 Publication
    VAR_010035
    Natural varianti407 – 4071M → K in ESCS; impairs protein folding and stability. 2 Publications
    VAR_010036
    Retinitis pigmentosa 37 (RP37) [MIM:611131]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561G → R in RP37. 2 Publications
    VAR_037026

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi372 – 3721L → R: Reduces transcription repressor activity. 1 Publication
    Mutagenesisi375 – 3751L → R: Reduces transcription repressor activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi268100. phenotype.
    611131. phenotype.
    Orphaneti53540. Goldmann-Favre syndrome.
    791. Retinitis pigmentosa.
    PharmGKBiPA31757.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 410410Photoreceptor-specific nuclear receptorPRO_0000053599Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki185 – 185Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Cross-linki330 – 330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei333 – 3331PhosphothreonineBy similarity
    Cross-linki337 – 337Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

    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-185 appears to be the main site By similarity.By similarity

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ9Y5X4.
    PaxDbiQ9Y5X4.
    PRIDEiQ9Y5X4.

    PTM databases

    PhosphoSiteiQ9Y5X4.

    Expressioni

    Tissue specificityi

    Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.1 Publication

    Gene expression databases

    CleanExiHS_NR2E3.
    GenevestigatoriQ9Y5X4.

    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 By similarity. Component of a complex that includes NR2E3, PIAS3, NRL, CRX and/or NR1D1. Binds 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 similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CDK9P507504EBI-7216962,EBI-1383449
    DHX30Q7L2E35EBI-7216962,EBI-1211456
    HDAC1Q135472EBI-7216962,EBI-301834
    HDAC3O153792EBI-7216962,EBI-607682
    MYBBP1AQ9BQG02EBI-7216962,EBI-676973
    NCOR1O753762EBI-7216962,EBI-347233
    RBBP4Q090282EBI-7216962,EBI-620823
    RBBP7Q165762EBI-7216962,EBI-352227
    RBL1P287492EBI-7216962,EBI-971402
    SIN3AQ96ST32EBI-7216962,EBI-347218
    TBL3Q127882EBI-7216962,EBI-715766

    Protein-protein interaction databases

    BioGridi115320. 24 interactions.
    IntActiQ9Y5X4. 12 interactions.
    MINTiMINT-4302911.
    STRINGi9606.ENSP00000317199.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4LOGX-ray2.70A/B217-410[»]
    ProteinModelPortaliQ9Y5X4.
    SMRiQ9Y5X4. Positions 47-410.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi371 – 3755Poly-Leu

    Sequence similaritiesi

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

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri47 – 6721NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri83 – 10826NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG277339.
    HOGENOMiHOG000260820.
    HOVERGENiHBG005606.
    InParanoidiQ9Y5X4.
    KOiK08546.
    PhylomeDBiQ9Y5X4.

    Family and domain databases

    Gene3Di1.10.565.10. 2 hits.
    3.30.50.10. 1 hit.
    InterProiIPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR000003. Retinoid-X_rcpt/HNF4.
    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]
    PRINTSiPR00545. RETINOIDXR.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: Q9Y5X4-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC    50
    GDSSSGKHYG IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC 100
    QACRLKKCLQ AGMNQDAVQN ERQPRSTAQV HLDSMESNTE SRPESLVAPP 150
    APAGRSPRGP TPMSAARALG HHFMASLITA ETCAKLEPED ADENIDVTSN 200
    DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV FSSLPFRDQV 250
    ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET 300
    RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ 350
    VMLSQHSKAH HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM 400
    EKLLCDMFKN 410
    Length:410
    Mass (Da):44,692
    Last modified:November 1, 1999 - v1
    Checksum:iD49525830ED0A000
    GO
    Isoform Short (identifier: Q9Y5X4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         368-410: Missing.

    Show »
    Length:367
    Mass (Da):39,638
    Checksum:iF67A09D430754B3D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441S → L Associated with autosomal recessive retinitis pigmentosa. 1 Publication
    VAR_062768
    Natural varianti56 – 561G → R in RP37. 2 Publications
    VAR_037026
    Natural varianti67 – 693Missing in ESCS.
    VAR_009265
    Natural varianti76 – 761R → Q in ESCS. 1 Publication
    VAR_009266
    Natural varianti76 – 761R → W in ESCS. 1 Publication
    VAR_009267
    Natural varianti88 – 881G → V in ESCS. 1 Publication
    VAR_020839
    Natural varianti97 – 971R → H in ESCS. 3 Publications
    VAR_010025
    Natural varianti104 – 1041R → Q Associated with ESCS. 1 Publication
    VAR_062769
    Natural varianti104 – 1041R → W in ESCS. 2 Publications
    VAR_010026
    Natural varianti121 – 1211E → K in ESCS. 1 Publication
    VAR_010027
    Natural varianti140 – 1401E → G.2 Publications
    Corresponds to variant rs1805020 [ dbSNP | Ensembl ].
    VAR_010028
    Natural varianti163 – 1631M → T.2 Publications
    Corresponds to variant rs1805021 [ dbSNP | Ensembl ].
    VAR_010029
    Natural varianti232 – 2321V → I.1 Publication
    Corresponds to variant rs1805023 [ dbSNP | Ensembl ].
    VAR_010030
    Natural varianti234 – 2341W → S in ESCS. 2 Publications
    VAR_010031
    Natural varianti256 – 2561A → E in ESCS. 2 Publications
    VAR_020840
    Natural varianti263 – 2631L → P in ESCS; impairs protein folding. 1 Publication
    VAR_020841
    Natural varianti287 – 2871G → S Associated with autosomal recessive retinitis pigmentosa. 1 Publication
    VAR_062770
    Natural varianti302 – 3021V → I.1 Publication
    Corresponds to variant rs1805025 [ dbSNP | Ensembl ].
    VAR_010032
    Natural varianti309 – 3091R → G in ESCS; impairs protein folding and stability. 2 Publications
    VAR_010033
    Natural varianti311 – 3111R → Q in ESCS; impairs protein folding and stability and hinders the ability to form stable dimers. 6 Publications
    Corresponds to variant rs28937873 [ dbSNP | Ensembl ].
    VAR_010034
    Natural varianti324 – 3241K → R Associated with autosomal recessive retinitis pigmentosa. 1 Publication
    VAR_062771
    Natural varianti334 – 3341R → G Associated with ESCS; impairs protein folding and stability. 1 Publication
    VAR_062772
    Natural varianti336 – 3361L → P in ESCS; impairs protein folding and stability. 1 Publication
    VAR_020842
    Natural varianti353 – 3531L → V in ESCS; impairs protein folding and stability. 1 Publication
    VAR_020843
    Natural varianti385 – 3851R → P in ESCS. 1 Publication
    VAR_010035
    Natural varianti407 – 4071M → K in ESCS; impairs protein folding and stability. 2 Publications
    VAR_010036

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei368 – 41043Missing in isoform Short. 1 PublicationVSP_003679Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF121129 mRNA. Translation: AAD28301.1.
    AF148128 mRNA. Translation: AAF22227.1.
    AJ276674 Genomic DNA. Translation: CAB82769.1.
    AB307710 mRNA. Translation: BAH02301.1.
    CH471082 Genomic DNA. Translation: EAW77876.1.
    RefSeqiNP_055064.1. NM_014249.3. [Q9Y5X4-1]
    NP_057430.1. NM_016346.3. [Q9Y5X4-2]
    UniGeneiHs.187354.
    Hs.636007.

    Genome annotation databases

    GeneIDi10002.
    KEGGihsa:10002.
    UCSCiuc002ath.1. human. [Q9Y5X4-1]

    Polymorphism databases

    DMDMi8928275.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the NR2E3 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF121129 mRNA. Translation: AAD28301.1 .
    AF148128 mRNA. Translation: AAF22227.1 .
    AJ276674 Genomic DNA. Translation: CAB82769.1 .
    AB307710 mRNA. Translation: BAH02301.1 .
    CH471082 Genomic DNA. Translation: EAW77876.1 .
    RefSeqi NP_055064.1. NM_014249.3. [Q9Y5X4-1 ]
    NP_057430.1. NM_016346.3. [Q9Y5X4-2 ]
    UniGenei Hs.187354.
    Hs.636007.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4LOG X-ray 2.70 A/B 217-410 [» ]
    ProteinModelPortali Q9Y5X4.
    SMRi Q9Y5X4. Positions 47-410.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115320. 24 interactions.
    IntActi Q9Y5X4. 12 interactions.
    MINTi MINT-4302911.
    STRINGi 9606.ENSP00000317199.

    Chemistry

    BindingDBi Q9Y5X4.
    ChEMBLi CHEMBL4374.

    PTM databases

    PhosphoSitei Q9Y5X4.

    Polymorphism databases

    DMDMi 8928275.

    Proteomic databases

    MaxQBi Q9Y5X4.
    PaxDbi Q9Y5X4.
    PRIDEi Q9Y5X4.

    Protocols and materials databases

    DNASUi 10002.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 10002.
    KEGGi hsa:10002.
    UCSCi uc002ath.1. human. [Q9Y5X4-1 ]

    Organism-specific databases

    CTDi 10002.
    GeneCardsi GC15P072084.
    GeneReviewsi NR2E3.
    HGNCi HGNC:7974. NR2E3.
    MIMi 268100. phenotype.
    604485. gene.
    611131. phenotype.
    neXtProti NX_Q9Y5X4.
    Orphaneti 53540. Goldmann-Favre syndrome.
    791. Retinitis pigmentosa.
    PharmGKBi PA31757.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277339.
    HOGENOMi HOG000260820.
    HOVERGENi HBG005606.
    InParanoidi Q9Y5X4.
    KOi K08546.
    PhylomeDBi Q9Y5X4.

    Enzyme and pathway databases

    Reactomei REACT_15525. Nuclear Receptor transcription pathway.
    SignaLinki Q9Y5X4.

    Miscellaneous databases

    GeneWikii Photoreceptor_cell-specific_nuclear_receptor.
    GenomeRNAii 10002.
    NextBioi 37775.
    PROi Q9Y5X4.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_NR2E3.
    Genevestigatori Q9Y5X4.

    Family and domain databases

    Gene3Di 1.10.565.10. 2 hits.
    3.30.50.10. 1 hit.
    InterProi IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR000003. Retinoid-X_rcpt/HNF4.
    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 PR00545. RETINOIDXR.
    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
      Tissue: Retinoblastoma.
    2. "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] (ISOFORM SHORT).
      Tissue: Retina.
    3. "Assignment of the photoreceptor-specific nuclear receptor (PNR) gene to 15q22.32-q24.1 in the Bardet-Biedl Syndrome (BBS4) region."
      Rendtorf N., Vissing H., Shilahtaroglu A., Tommerup N.
      Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
    4. "Comprehensive DNA-binding analysis of human hormone nuclear receptors by fluorescence correlation spectroscopy based on cell-free system."
      Kobayashi T., Kodani Y., Sawasaki T., Endo Y.
      Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes."
      Peng G.H., Ahmad O., Ahmad F., Liu J., Chen S.
      Hum. Mol. Genet. 14:747-764(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CRX, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
    7. "The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation."
      Tan M.H., Zhou X.E., Soon F.F., Li X., Li J., Yong E.L., Melcher K., Xu H.E.
      PLoS ONE 8:E74359-E74359(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 217-410, SUBUNIT, MUTAGENESIS OF LEU-372 AND LEU-375, FUNCTION, CHARACTERIZATION OF VARIANT ASSOCIATED WITH ESCS GLY-334, CHARACTERIZATION OF VARIANTS ESCS PRO-263; GLY-309; GLN-311; PRO-336; VAL-353 AND LYS-407.
    8. "The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition."
      Gerber S., Rozet J.-M., Takezawa S., dos Santos L.C., Lopes L., Gribouval O., Penet C., Perrault I., Ducroq D., Souied E., Jeanpierre M., Romana S., Frezal J., Ferraz F., Yu-Umesono R., Munnich A., Kaplan J.
      Hum. Genet. 107:276-284(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ESCS GLN-311, CHARACTERIZATION OF VARIANT ESCS GLN-311.
    9. Cited for: VARIANTS ESCS 67-CYS--GLY-69 DEL; GLN-76; TRP-76; HIS-97; TRP-104; LYS-121; SER-234; GLY-309; GLN-311; PRO-385 AND LYS-407, VARIANTS GLY-140; THR-163; ILE-232 AND ILE-302.
    10. "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration."
      Sharon D., Sandberg M.A., Caruso R.C., Berson E.L., Dryja T.P.
      Arch. Ophthalmol. 121:1316-1323(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ESCS 67-CYS--GLY-69 DEL; HIS-97; GLU-256 AND GLN-311.
    11. Cited for: VARIANTS ESCS 67-CYS--GLY-69 DEL; VAL-88; HIS-97; TRP-104; SER-234; GLU-256; PRO-263; GLY-309; GLN-311; PRO-336; VAL-353 AND LYS-407.
    12. "Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity."
      Hayashi T., Gekka T., Goto-Omoto S., Takeuchi T., Kubo A., Kitahara K.
      Ophthalmology 112:2115-2115(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLN-104 AND GLY-334, ASSOCIATION OF VARIANTS GLN-104 AND GLY-334 WITH ESCS.
    13. "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa."
      Coppieters F., Leroy B.P., Beysen D., Hellemans J., De Bosscher K., Haegeman G., Robberecht K., Wuyts W., Coucke P.J., De Baere E.
      Am. J. Hum. Genet. 81:147-157(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP37 ARG-56.
    14. "Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies."
      Bernal S., Solans T., Gamundi M.J., Hernan I., de Jorge L., Carballo M., Navarro R., Tizzano E., Ayuso C., Baiget M.
      Clin. Genet. 73:360-366(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ESCS GLN-311, VARIANTS LEU-44; GLY-140; THR-163; SER-287 AND ARG-324.
    15. Cited for: VARIANT RP37 ARG-56, VARIANT ESCS GLN-311.

    Entry informationi

    Entry nameiNR2E3_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5X4
    Secondary accession number(s): B6ZGU0, Q9UHM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 145 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3