RD3

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Full Name

Retinal Degeneration 3

Function

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291).
Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291).
Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983).
Up-regulates the activity of GUK1, a kinase that also plays an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371).
Plays an important role for the survival of rods and cones in the retina (By similarity).

Biological Process

Biological Process negative regulation of guanylate cyclase activityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process retina development in camera-type eyeISS:UniProtKB
Biological Process visual perceptionISS:UniProtKB

Cellular Location

Cell projection, cilium, photoreceptor outer segment
Photoreceptor inner segment
Endosome
Nucleus
Cytoplasm
Cytoplasm, perinuclear region
Colocalizes with GUCY2E and GUCY2F in rods and cones photoreceptors. Colocalizes with GUK1 in photoreceptor inner segments and to a lesser extent in the outer plexiform layer (By similarity).
Strong dot-like perinuclear staining in the epithelial cells (PubMed:29030614).

Involvement in disease

Leber congenital amaurosis 12 (LCA12):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.