Prph2
entrez
19133
canonical
uniprot
P15499
canonical
ensembl
ENSMUSG00000023978
resolver
ensp
ENSMUSP00000024773
resolver
enst
ENSMUST00000024773
resolver
genesymbol
Prph2
resolver
genesymbol_syn
Rds
resolver
uniprot
Q3UWK3
resolver
uniprot_entry
PRPH2_MOUSE
resolver
uniprot_entry
Q3UWK3_MOUSE
resolver
amino_acid_sequence
MALLKVKFDQKKRVKLAQGLWLMNWLSVLAGIVLFSLGLFLKIELRKRSEVMNNSESHFVPNSLIGVGVLSCVFNSLAGKICYDALDPAKYAKWKPWLKPYLAVCIFFNVILFLVALCCFLLRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTNNSAHYSYDHQTEELNLWLRGCRAALLNYYSSLMNSMGVVTLLVWLFEVSITAGLRYLHTALESVSNPEDPECESEGWLLEKSVPETWKAFLESFKKLGKSNQVEAEGADAGPAPEAG
uniprot
proteins
disease_involvement
DISEASE: Note=Responsible for retinal degeneration slow (Rds) (PubMed:8530028). {ECO:0000269|PubMed:8530028}.
uniprot
proteins
function
FUNCTION: Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (PubMed:6715580). Required for the maintenance of retinal outer nuclear layer thickness (PubMed:29961824, PubMed:6715580). Required for the correct development and organization of the photoreceptor inner segment (PubMed:6715580). {ECO:0000269|PubMed:29961824, ECO:0000269|PubMed:6715580}.
uniprot
proteins
mass_dalton
39260
uniprot
proteins
mutagenesis
MUTAGEN 141; /note="Y->C: Reduced cone and rod photoreceptor function as a result of outer segment malformation, including disorganization, short outer segments, and elongated disks which affect both rod and cone photoreceptors. Reduced Prph2 protein abundance in the retina."; /evidence="ECO:0000269|PubMed:29961824"; MUTAGEN 150; /note="C->S: Reduced cone and rod photoreceptor function as a result of outer segment malformation, including disorganization, short outer segments, and elongated disks which affect both rod and cone photoreceptors. Reduced Prph2 and Rom1 protein abundance in the retina in addition to disruption of the formation of large disulfide-linked protein complexes."; /evidence="ECO:0000269|PubMed:29961824
uniprot
proteins
protein_family
PRPH2/ROM1 family
uniprot
proteins
pubmed
10802659
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17260955
uniprot
proteins
pubmed
1992463
uniprot
proteins
pubmed
26406599
uniprot
proteins
pubmed
2918924
uniprot
proteins
pubmed
29961824
uniprot
proteins
pubmed
6715580
uniprot
proteins
pubmed
8530028
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P17810}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:10802659, ECO:0000269|PubMed:17260955, ECO:0000269|PubMed:26406599, ECO:0000269|PubMed:29961824}. Photoreceptor inner segment {ECO:0000269|PubMed:17260955, ECO:0000269|PubMed:26406599}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 62..80; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 265..290; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins