PDE6A
entrez
5145
canonical
uniprot
P16499
canonical
ensembl
ENSG00000132915
resolver
ensp
ENSP00000255266
resolver
ensp
ENSP00000478060
resolver
enst
ENST00000255266
resolver
enst
ENST00000613228
resolver
genesymbol
PDE6A
resolver
genesymbol_syn
PDEA
resolver
hgnc
HGNC:8785
resolver
uniprot
A0A087WTQ5
resolver
uniprot
F1T0K3
resolver
uniprot
Q0P638
resolver
uniprot_entry
A0A087WTQ5_HUMAN
resolver
uniprot_entry
F1T0K3_HUMAN
resolver
uniprot_entry
PDE6A_HUMAN
resolver
uniprot_sec
Q0P638
resolver
amino_acid_sequence
MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEIIFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAVLEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILASPIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIMKVYHLSYLHNCETRRGQILLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVPPYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIMNAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLMESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPWECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQMYYELKVVDKFHIPQEALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKTLLRDESLNIFQNLNRRQHEHAIHMMDIAIIATDLALYFKKRTMFQKIVDQSKTYESEQEWTQYMMLEQTRKEIVMAMMMTACDLSAITKPWEVQSQVALLVAAEFWEQGDLERTVLQQNPIPMMDRNKADELPKLQVGFIDFVCTFVYKEFSRFHEEITPMLDGITNNRKEWKALADEYDAKMKVQEEKKQKQQSAKSAAAGNQPGGNPSPGGATTSKSCCIQ
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 43 (RP43) [MIM:613810]: 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:10393062, ECO:0000269|PubMed:7493036}. 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 alpha 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. Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (By similarity). {ECO:0000250|UniProtKB:P11541, ECO:0000269|PubMed:20940301}.
uniprot
proteins
mass_dalton
99547
uniprot
proteins
post_translational_modification
PTM: Farnesylated. This modification is required for association with the rod photoreceptor disk membrane. {ECO:0000250|UniProtKB:D3Z8C9}.
uniprot
proteins
protein_family
Cyclic nucleotide phosphodiesterase family
uniprot
proteins
pubmed
10393062
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20940301
uniprot
proteins
pubmed
2155175
uniprot
proteins
pubmed
7493036
uniprot
proteins
sequence_length
860
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000269|PubMed:20940301}; Lipid-anchor {ECO:0000250|UniProtKB:D3Z8C9}. Cell membrane {ECO:0000250|UniProtKB:P11541}; Lipid-anchor {ECO:0000250|UniProtKB:D3Z8C9}; Cytoplasmic side {ECO:0000250|UniProtKB:P11541}.
uniprot
proteins