Rd3
entrez
74023
canonical
uniprot
Q8BRE0
canonical
ensembl
ENSMUSG00000049353
resolver
ensp
ENSMUSP00000135650
resolver
ensp
ENSMUSP00000137756
resolver
ensp
ENSMUSP00000138049
resolver
ensp
ENSMUSP00000353882
resolver
enst
ENSMUST00000175680
resolver
enst
ENSMUST00000180463
resolver
enst
ENSMUST00000181512
resolver
genesymbol
Rd3
resolver
uniprot
M0QWC4
resolver
uniprot
Q05D96
resolver
uniprot
Q3SYJ8
resolver
uniprot
Q9CRS3
resolver
uniprot
Q9JMF2
resolver
uniprot_entry
M0QWC4_MOUSE
resolver
uniprot_entry
Q05D96_MOUSE
resolver
uniprot_entry
RD3_MOUSE
resolver
uniprot_sec
Q3SYJ8
resolver
uniprot_sec
Q9CRS3
resolver
uniprot_sec
Q9JMF2
resolver
amino_acid_sequence
MSLIPWLRWNDTPPRLSARTPAEMVLETLMMELAGQMREVERQQRERRSAVRKICTGVDYSWLANTPRPTYDISPGERLQLEDVCAKIHPSYCGPAILRFRQLLAEREPEVQEVARLFRSVLQEALEKMKQEEEAHKLTRQWSLRPRGSLSSFKTRARIAPFASDIRTISEDVERDAPPPPRTWSMPEFRAPQAD
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:17186464, ECO:0000269|PubMed:8486383}.
uniprot
proteins
function
FUNCTION: 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:17186464, PubMed:8486383). {ECO:0000250|UniProtKB:Q7Z3Z2, ECO:0000269|PubMed:17186464, ECO:0000269|PubMed:21078983, ECO:0000269|PubMed:27471269, ECO:0000269|PubMed:8486383}.
uniprot
proteins
mass_dalton
22669
uniprot
proteins
pubmed
10679242
uniprot
proteins
pubmed
12914764
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17186464
uniprot
proteins
pubmed
21078983
uniprot
proteins
pubmed
27471269
uniprot
proteins
pubmed
29515371
uniprot
proteins
pubmed
8486383
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:21078983, ECO:0000269|PubMed:29515371}. Photoreceptor inner segment {ECO:0000269|PubMed:21078983, ECO:0000269|PubMed:29515371}. Endosome {ECO:0000269|PubMed:21078983}. Nucleus {ECO:0000269|PubMed:17186464}. Cytoplasm {ECO:0000250|UniProtKB:Q7Z3Z2}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q7Z3Z2}. 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 (PubMed:29515371). Strong dot-like perinuclear staining in the epithelial cells (By similarity). {ECO:0000250|UniProtKB:Q7Z3Z2, ECO:0000269|PubMed:29515371}.
uniprot
proteins