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Protein Page:
NR2E3 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
NR2E3 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. Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS). ESCS is an 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. Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37). RP leads to degeneration of retinal photoreceptor cells. 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. RP37 inheritance is autosomal dominant. Belongs to the nuclear hormone receptor family. NR2 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Nuclear receptor
Cellular Component: nucleoplasm; nucleus
Molecular Function: ligand-dependent nuclear receptor activity; protein binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity
Biological Process: transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; intracellular receptor-mediated signaling pathway; regulation of transcription, DNA-dependent; visual perception; phototransduction; gene expression; steroid hormone mediated signaling; signal transduction
Reference #:  Q9Y5X4 (UniProtKB)
Alt. Names/Synonyms: ESCS; MGC49976; NR2E3; Nuclear receptor subfamily 2 group E member 3; nuclear receptor subfamily 2, group E, member 3; Photoreceptor-specific nuclear receptor; PNR; rd7; Retina-specific nuclear receptor; RNR; RP37
Gene Symbols: NR2E3
Molecular weight: 44,692 Da
Basal Isoelectric point: 8.17  Predict pI for various phosphorylation states
Select Structure to View Below

NR2E3

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S11-p RPTALMSsTVAAAAP
1 0 K185 ITAETCAKLEPEDAD
0 1 T318 RALAVDPTEFACMKA
1 0 K330 MKALVLFKPEtRGLK
0 1 T333-p LVLFKPEtRGLKDPE
1 0 K337 KPEtRGLKDPEHVEA
  mouse

 
S3 _____MSSTVAASTM
K178-sm ITAETCAkLEPEDAE
T303-p RALAVDPtEFACLKA
K315-sm LKALVLFkPETRGLk
T318 LVLFkPETRGLkDPE
K322-sm kPETRGLkDPEHVEA
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