RGS9BP
entrez
388531
canonical
uniprot
Q6ZS82
canonical
ensembl
ENSG00000186326
resolver
ensp
ENSP00000334134
resolver
enst
ENST00000334176
resolver
genesymbol
RGS9BP
resolver
genesymbol_syn
R9AP
resolver
hgnc
HGNC:30304
resolver
uniprot
Q6ZVJ6
resolver
uniprot_entry
R9BP_HUMAN
resolver
uniprot_sec
Q6ZVJ6
resolver
amino_acid_sequence
MAREECKALLDGLNKTTACYHHLVLTVGGSADSQNLRQELQKTRQKAQELAVSTCARLTAVLRDRGLAADERAEFERLWVAFSGCLDLLEADMRRALELGAAFPLHAPRRPLVRTGVAGASSGVAARALSTRSLRLEAEGDFDVADLRELEREVLQVGEMIDNMEMKVNVPRWTVQARQAAGAELLSTVSAGPSSVVSLQERGGGCDPRKALAAILFGAVLLAAVALAVCVAKLS
uniprot
proteins
disease_involvement
DISEASE: Prolonged electroretinal response suppression 2 (PERRS2) [MIM:620344]: A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS2 is an autosomal recessive form with onset in childhood. {ECO:0000269|PubMed:14702087}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
25148
uniprot
proteins
protein_family
RGS7BP/RGS9BP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14702087
uniprot
proteins
sequence_length
235
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 211..231; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins