background:
Photoreceptor-specific nuclear receptor, also known as NR2E3 or PNR, belongs to a large family of nuclear hormone receptor transcription factors. The proteins belonging to this family are characterized by discrete domains functioning in DNA and ligand binding. NR2E3 has a role in regulating the signaling pathway elemental to the photoreceptor cell function and in regulating pathways involved in embryonic development. NR2E3 is an eye specific nuclear protein found in the outer nuclear layer of the adult retina (where the nuclei of cone and rod photoreceptors are located). Defects in this gene encoding for the protein, which localizes to chromosome 15q22.32, cause enhanced S cone syndrome.
Function:
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.
Subunit:
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.
Subcellular Location:
Nucleus.
Tissue Specificity:
Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.
Post-translational modifications:
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.
DISEASE:
Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS) [MIM:268100]. 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) [MIM:611131]. 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.
Similarity:
Belongs to the nuclear hormone receptor family. NR2 subfamily.
Contains 1 nuclear receptor DNA-binding domain.
Database links:
UniProtKB/Swiss-Prot: Q9Y5X4.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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