RD3
entrez
343035
canonical
uniprot
Q7Z3Z2
canonical
ensembl
ENSG00000198570
resolver
ensp
ENSP00000355969
resolver
ensp
ENSP00000505312
resolver
ensp
ENSP00000574351
resolver
ensp
ENSP00000597175
resolver
ensp
ENSP00000631465
resolver
enst
ENST00000367002
resolver
enst
ENST00000680073
resolver
enst
ENST00000904292
resolver
enst
ENST00000927116
resolver
enst
ENST00000961406
resolver
genesymbol
RD3
resolver
genesymbol_syn
C1orf36
resolver
hgnc
HGNC:19689
resolver
uniprot
A8K595
resolver
uniprot_entry
RD3_HUMAN
resolver
uniprot_sec
A8K595
resolver
amino_acid_sequence
MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDYSWLASTPRSTYDLSPIERLQLEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRSVLQEVLERMKQEEEAHKLTRQWSLRPRGSLATFKTRARISPFASDIRTISEDVERDTPPPLRSWSMPEFRAPKAD
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 12 (LCA12) [MIM:610612]: 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. {ECO:0000269|PubMed:17186464, ECO:0000269|PubMed:22531706, ECO:0000269|PubMed:23308101, ECO:0000269|PubMed:32083505}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:21928830, PubMed:27471269, PubMed:29515371, 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). {ECO:0000250|UniProtKB:Q8BRE0, ECO:0000269|PubMed:21078983, ECO:0000269|PubMed:21928830, ECO:0000269|PubMed:27471269, ECO:0000269|PubMed:29515371, ECO:0000269|PubMed:30559291}.
uniprot
proteins
mass_dalton
22704
uniprot
proteins
mutagenesis
MUTAGEN 29; /note="L->F: Reduced the affinity of RD3 for GUCY2D."; /evidence="ECO:0000269|PubMed:30559291"; MUTAGEN 32; /note="E->K: Reduced the affinity of RD3 for GUCY2D."; /evidence="ECO:0000269|PubMed:30559291"; MUTAGEN 85; /note="C->L: Reduced the affinity of RD3 for GUCY2D."; /evidence="ECO:0000269|PubMed:30559291"; MUTAGEN 87..90; /note="KIHP->PHRL: Strongly affects RD3 ability to suppress GUCY2D activity."; /evidence="ECO:0000269|PubMed:27471269"; MUTAGEN 93..97; /note="CGPAI->PALSL: Strongly affects RD3 ability to suppress GUCY2D activity."; /evidence="ECO:0000269|PubMed:27471269"; MUTAGEN 93; /note="C->P: Reduced RD3 affinity for GUCY2D by 80-fold."; /evidence="ECO:0000269|PubMed:27471269"; MUTAGEN 93; /note="C->V: Increased the affinity of RD3 for GUCY2D."; /evidence="ECO:0000269|PubMed:30559291"; MUTAGEN 99..102; /note="RFRQ->FRQR: Strongly affects RD3 ability to suppress GUCY2D activity."; /evidence="ECO:0000269|PubMed:27471269"; MUTAGEN 108; /note="E->K: Does not affect affinity of RD3 for GUCY2D."; /evidence="ECO:0000269|PubMed:30559291"; MUTAGEN 119..122; /note="RSVL->LAER: Strongly affects RD3 ability to suppress GUCY2D activity."; /evidence="ECO:0000269|PubMed:27471269
uniprot
proteins
pubmed
12914764
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17186464
uniprot
proteins
pubmed
21078983
uniprot
proteins
pubmed
21928830
uniprot
proteins
pubmed
22531706
uniprot
proteins
pubmed
23308101
uniprot
proteins
pubmed
26100624
uniprot
proteins
pubmed
27471269
uniprot
proteins
pubmed
29030614
uniprot
proteins
pubmed
29515371
uniprot
proteins
pubmed
30559291
uniprot
proteins
pubmed
32083505
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q8BRE0}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q8BRE0}. Endosome {ECO:0000250|UniProtKB:Q8BRE0}. Nucleus {ECO:0000269|PubMed:26100624, ECO:0000269|PubMed:29030614}. Cytoplasm {ECO:0000269|PubMed:26100624, ECO:0000269|PubMed:29030614}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:29030614}. Note=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). {ECO:0000250|UniProtKB:Q8BRE0, ECO:0000269|PubMed:29030614}.
uniprot
proteins