RBP3
entrez
5949
canonical
uniprot
P10745
canonical
ensembl
ENSG00000265203
resolver
ensp
ENSP00000463151
resolver
enst
ENST00000584701
resolver
genesymbol
RBP3
resolver
hgnc
HGNC:9921
resolver
uniprot
Q0QD34
resolver
uniprot
Q5VSR0
resolver
uniprot
Q8IXN0
resolver
uniprot_entry
RET3_HUMAN
resolver
uniprot_sec
Q0QD34
resolver
uniprot_sec
Q5VSR0
resolver
uniprot_sec
Q8IXN0
resolver
amino_acid_sequence
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 66 (RP66) [MIM:615233]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:19074801, ECO:0000269|PubMed:23486466}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates the transport of 11-cis- and all-trans-retinoids between the retinal pigment epithelium (RPE) and photoreceptors, facilitating retinoid exchange required for the visual cycle. {ECO:0000250|UniProtKB:P49194}.
uniprot
proteins
mass_dalton
135363
uniprot
proteins
protein_family
Peptidase S41A family
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17286855
uniprot
proteins
pubmed
19074801
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
2303470
uniprot
proteins
pubmed
23486466
uniprot
proteins
pubmed
2402443
uniprot
proteins
pubmed
2542268
uniprot
proteins
pubmed
2792773
uniprot
proteins
pubmed
3170584
uniprot
proteins
pubmed
3455009
uniprot
proteins
pubmed
3743780
uniprot
proteins
pubmed
3827838
uniprot
proteins
sequence_length
1247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix. Note=Interphotoreceptor matrix that permeates the space between the retina and the contiguous layer of pigment epithelium cells.
uniprot
proteins