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photoreceptor-specific nuclear receptor (retina-specific nuclear receptor, nuclear receptor subfamily 2 group E member 3, NR2E3, PNR, RNR)
Function:
1) transcription factor
2) regulation of signaling intrinsic to the photoreceptor cell
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression:
- eye specific
- expressed in outer nuclear layer of adult neurosensory retina, where nuclei of cone & rod photoreceptors are found
Pathology:
- defects in NR2E3 are a cause of
a) enhanced S cone syndrome
b) retinitis pigmentosa type 37
Related
enhanced S cone syndrome (ESCS); Goldmann-Favre syndrome; retinoschisis with early hemeralopia
General
DNA-binding protein
nuclear hormone receptor family
orphan receptor
zinc finger protein
Properties
SIZE: MW = 45 kD
entity length = 410 aa
COMPARTMENT: cytoplasm
MOTIF: DNA-binding motif
SITE: 44-120
MOTIF: Zn finger C4-type
SITE: 47-67
EFFECTOR-BOUND: Zn+2
Zn finger C4-type
SITE: 83-108
EFFECTOR-BOUND: Zn+2
ligand-binding site
allosteric site
DNA-binding motif
MOTIF: kxffkr
NAME: kxffkr
FOR-BINDING-OF: calreticulin
FORM: kxffkr
Zinc finger
NAME: Zinc finger (2)
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 604485
UniProt Q9Y5X4
PFAM correlations
References
UniProt :accession Q9Y5X4