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Q9Y5X4

- NR2E3_HUMAN

UniProt

Q9Y5X4 - NR2E3_HUMAN

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Protein

Photoreceptor-specific nuclear receptor

Gene

NR2E3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. sequence-specific DNA binding Source: InterPro
  3. steroid hormone receptor activity Source: InterPro
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. eye photoreceptor cell development Source: Ensembl
  2. gene expression Source: Reactome
  3. intracellular receptor signaling pathway Source: GOC
  4. negative regulation of cell proliferation Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. phototransduction Source: ProtInc
  7. positive regulation of rhodopsin gene expression Source: Ensembl
  8. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  9. retina development in camera-type eye Source: Ensembl
  10. signal transduction Source: ProtInc
  11. transcription from RNA polymerase II promoter Source: ProtInc
  12. transcription initiation from RNA polymerase II promoter Source: Reactome
  13. visual perception Source: ProtInc
Complete GO annotation...

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
  3. transcription factor complex Source: Ensembl
Complete GO annotation...

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. 3 Publications
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.
ExpressionAtlasiQ9Y5X4. differential.
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. 25 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.
GeneTreeiENSGT00760000118948.
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

        10         20         30         40         50
METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC
60 70 80 90 100
GDSSSGKHYG IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC
110 120 130 140 150
QACRLKKCLQ AGMNQDAVQN ERQPRSTAQV HLDSMESNTE SRPESLVAPP
160 170 180 190 200
APAGRSPRGP TPMSAARALG HHFMASLITA ETCAKLEPED ADENIDVTSN
210 220 230 240 250
DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV FSSLPFRDQV
260 270 280 290 300
ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET
310 320 330 340 350
RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ
360 370 380 390 400
VMLSQHSKAH HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM
410
EKLLCDMFKN
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. 3 Publications
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.
CCDSiCCDS73750.1. [Q9Y5X4-1]
CCDS73751.1. [Q9Y5X4-2]
RefSeqiNP_055064.1. NM_014249.3. [Q9Y5X4-1]
NP_057430.1. NM_016346.3. [Q9Y5X4-2]
UniGeneiHs.187354.
Hs.636007.

Genome annotation databases

EnsembliENST00000617575; ENSP00000482504; ENSG00000278570. [Q9Y5X4-1]
ENST00000621098; ENSP00000479962; ENSG00000278570. [Q9Y5X4-2]
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 .
CCDSi CCDS73750.1. [Q9Y5X4-1 ]
CCDS73751.1. [Q9Y5X4-2 ]
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. 25 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

Ensembli ENST00000617575 ; ENSP00000482504 ; ENSG00000278570 . [Q9Y5X4-1 ]
ENST00000621098 ; ENSP00000479962 ; ENSG00000278570 . [Q9Y5X4-2 ]
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.
GeneTreei ENSGT00760000118948.
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.
ExpressionAtlasi Q9Y5X4. differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 146 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

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