PDE6B
entrez
5158
canonical
uniprot
P35913
canonical
ensembl
ENSG00000133256
resolver
ensp
ENSP00000255622
resolver
ensp
ENSP00000406334
resolver
ensp
ENSP00000420295
resolver
genesymbol
PDE6B
resolver
genesymbol_syn
PDEB
resolver
hgnc
HGNC:8786
resolver
uniprot
B4DHV7
resolver
uniprot
B7Z9T9
resolver
uniprot
E7ETT3
resolver
uniprot
Q53XN5
resolver
uniprot
Q9BWH5
resolver
uniprot
Q9UD49
resolver
uniprot_entry
B4DHV7_HUMAN
resolver
uniprot_entry
PDE6B_HUMAN
resolver
uniprot_sec
B7Z9T9
resolver
uniprot_sec
E7ETT3
resolver
uniprot_sec
Q53XN5
resolver
uniprot_sec
Q9BWH5
resolver
uniprot_sec
Q9UD49
resolver
amino_acid_sequence
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEICNGGPAPKSSTCCIL
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 40 (RP40) [MIM:613801]: 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:22334370, ECO:0000269|PubMed:27588261, ECO:0000269|PubMed:7724547, ECO:0000269|PubMed:8394174, ECO:0000269|PubMed:8557257, ECO:0000269|PubMed:8595886, ECO:0000269|PubMed:8698075, ECO:0000269|PubMed:8956055, ECO:0000269|PubMed:9543643}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:8075643}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.35
uniprot
proteins
function
FUNCTION: Catalytic beta subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G) (PubMed:20940301). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification (PubMed:8394174). Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (Probable). Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock (By similarity). {ECO:0000250|UniProtKB:P23440, ECO:0000269|PubMed:20940301, ECO:0000269|PubMed:8394174, ECO:0000305}.
uniprot
proteins
mass_dalton
98336
uniprot
proteins
post_translational_modification
PTM: Geranylgeranylated. This modification is required for association with the rod photoreceptor disk membrane. {ECO:0000250|UniProtKB:D3ZDI8}.
uniprot
proteins
protein_family
Cyclic nucleotide phosphodiesterase family
uniprot
proteins
pubmed
1322354
uniprot
proteins
pubmed
1338685
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1720239
uniprot
proteins
pubmed
20940301
uniprot
proteins
pubmed
22334370
uniprot
proteins
pubmed
27588261
uniprot
proteins
pubmed
7724547
uniprot
proteins
pubmed
7951329
uniprot
proteins
pubmed
8075643
uniprot
proteins
pubmed
8394174
uniprot
proteins
pubmed
8394243
uniprot
proteins
pubmed
8557257
uniprot
proteins
pubmed
8595886
uniprot
proteins
pubmed
8698075
uniprot
proteins
pubmed
8768262
uniprot
proteins
pubmed
8956055
uniprot
proteins
pubmed
9543643
uniprot
proteins
sequence_length
854
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000269|PubMed:20940301}; Lipid-anchor {ECO:0000250|UniProtKB:D3ZDI8}. Membrane {ECO:0000250|UniProtKB:P23439}; Lipid-anchor {ECO:0000250|UniProtKB:D3ZDI8}.
uniprot
proteins