Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:27471269). Inhibits the basal catalytic activity and the GCAP- stimulated activity of GUCY2E and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:27471269). Involved in the transport of GUCY2E 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 (By similarity). Plays an important role for the survival of rods and cones in the retina (PubMed:8486383, PubMed:17186464). {By
SimilarityUniProtKB:Q7Z3Z2, Experimental EvidencePubMed:17186464, Experimental EvidencePubMed:21078983, Experimental EvidencePubMed:27471269, Experimental EvidencePubMed:8486383}.
Note=A spontaneous mutation leading to a frameshift and in an unstable truncated protein lacking the C-terminal 89 amino acids causes retinal degeneration. Homozygotes mice (called rd-3) display retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. {Experimental EvidencePubMed:17186464, Experimental EvidencePubMed:8486383}.
Database Associations
OMIM
DisGeNET
Protein-Protein Interactions
Interactions with Nuclear Envelope proteins (1 interactors)
Endoplasmic reticulum chaperone BiP (EC 3.6.4.10) (78 kDa glucose-regulated protein) (GRP-78) (Binding-immunoglobulin protein) (BiP) (Heat shock protein 70 family protein 5) (HSP70 family protein 5) (Heat shock protein family A member 5) (Immunoglobulin heavy chain-binding protein)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory