P43080
uniprot
P43080
canonical
amino_acid_sequence
MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFGLKNLSPSASQYVEQMFETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVFSKIDVNGDGELSLEEFIEGVQKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAAG
uniprot
proteins
disease_involvement
DISEASE: Cone dystrophy 3 (COD3) [MIM:602093]: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:11108966, ECO:0000269|PubMed:11146732, ECO:0000269|PubMed:11484154, ECO:0000269|PubMed:15505030, ECO:0000269|PubMed:15735604, ECO:0000269|PubMed:18706439, ECO:0000269|PubMed:19459154, ECO:0000269|PubMed:28125083, ECO:0000269|PubMed:28442884, ECO:0000269|PubMed:31728034, ECO:0000269|PubMed:32025184, ECO:0000269|PubMed:9425234}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 14 (CORD14) [MIM:602093]: An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:15790869, ECO:0000269|PubMed:24024198, ECO:0000269|PubMed:24352742, ECO:0000269|PubMed:26358777, ECO:0000269|PubMed:30184081, ECO:0000269|PubMed:30622141, ECO:0000269|PubMed:31979372}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:18706439, PubMed:19459154, PubMed:30184081, PubMed:30622141). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity). {ECO:0000250|UniProtKB:P43081, ECO:0000250|UniProtKB:P46065, ECO:0000269|PubMed:18706439, ECO:0000269|PubMed:30184081, ECO:0000269|PubMed:30622141}.
uniprot
proteins
mass_dalton
22920
uniprot
proteins
pubmed
11108966
uniprot
proteins
pubmed
11146732
uniprot
proteins
pubmed
11484154
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15505030
uniprot
proteins
pubmed
15735604
uniprot
proteins
pubmed
15790869
uniprot
proteins
pubmed
18706439
uniprot
proteins
pubmed
19459154
uniprot
proteins
pubmed
24024198
uniprot
proteins
pubmed
24352742
uniprot
proteins
pubmed
26358777
uniprot
proteins
pubmed
28025326
uniprot
proteins
pubmed
28125083
uniprot
proteins
pubmed
28442884
uniprot
proteins
pubmed
30184081
uniprot
proteins
pubmed
30622141
uniprot
proteins
pubmed
31728034
uniprot
proteins
pubmed
31979372
uniprot
proteins
pubmed
32025184
uniprot
proteins
pubmed
7983048
uniprot
proteins
pubmed
9425234
uniprot
proteins
pubmed
9620085
uniprot
proteins
sequence_length
201
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Lipid-anchor {ECO:0000250|UniProtKB:P46065}. Photoreceptor inner segment {ECO:0000269|PubMed:9620085}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:9620085}. Note=Present at higher levels in cone than in rod outer segments (PubMed:9620085). Subcellular location is not affected by light or dark conditions. {ECO:0000269|PubMed:9620085}.
uniprot
proteins