PDE6C
entrez
5146
canonical
uniprot
P51160
canonical
ensembl
ENSG00000095464
resolver
ensp
ENSP00000360502
resolver
enst
ENST00000371447
resolver
genesymbol
PDE6C
resolver
genesymbol_syn
PDEA2
resolver
hgnc
HGNC:8787
resolver
uniprot
A6NCR6
resolver
uniprot
Q5VY29
resolver
uniprot_entry
PDE6C_HUMAN
resolver
uniprot_sec
A6NCR6
resolver
uniprot_sec
Q5VY29
resolver
amino_acid_sequence
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESALCLELLWTVQEEGGTPEQGVHRALQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPTSKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKKNSHFSDFMDKQTGYVTKNLLATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRSQILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGEVEPYKGPKTPDGREVNFYKIIDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICNMMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIVGVATFYNRKDGKPFDEHDEYITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVDVIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFEINVVEKFKVPVEVLTRWMYTVRKGYRAVTYHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAFCHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKTLLQDESLNIFQNLNKRQFETVIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMTACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFIDFVCTFVYKEFSRFHKEITPMLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKAAEDSGGGDDKKSKTCLML
uniprot
proteins
disease_involvement
DISEASE: Cone dystrophy 4 (COD4) [MIM:613093]: An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:19615668}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Achromatopsia 5 (ACHM5) [MIM:613093]: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. {ECO:0000269|PubMed:19615668, ECO:0000269|PubMed:21127010, ECO:0000269|PubMed:28583373}. 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 cone-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP as part of the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic alpha subunits (PDE6C) and two inhibitory gamma subunits (PDE6H) (PubMed:21127010, PubMed:28583373, PubMed:39739818). Light-activated GNAT2 relieves gamma subunit-mediated inhibition, allowing the catalytic subunits to hydrolyze cGMP and mediate visual signal transduction and amplification. The resulting decrease in cytosolic cGMP levels triggers the closure of cGMP-gated cation channels at the plasma membrane, leading to hyperpolarization of cone photoreceptors (By similarity). The catalytic site can adopt partially open conformations even in the inhibited state, contributing to the higher basal activity and rapid response kinetics characteristic of cones compared to rods (PubMed:39739818). {ECO:0000250|UniProtKB:P11541, ECO:0000269|PubMed:21127010, ECO:0000269|PubMed:28583373, ECO:0000269|PubMed:39739818}.
uniprot
proteins
mass_dalton
99147
uniprot
proteins
mutagenesis
MUTAGEN 858; /note="L->V: No effect on cGMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:28583373
uniprot
proteins
post_translational_modification
PTM: Prenylated. This modification is required for membrane association and for efficient targeting and retention in cone outer segments (By similarity). {ECO:0000250|UniProtKB:Q91ZQ1}.
uniprot
proteins
protein_family
Cyclic nucleotide phosphodiesterase family
uniprot
proteins
pubmed
10393054
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
19615668
uniprot
proteins
pubmed
21127010
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
28583373
uniprot
proteins
pubmed
39739818
uniprot
proteins
pubmed
7490077
uniprot
proteins
pubmed
8543163
uniprot
proteins
pubmed
8641425
uniprot
proteins
sequence_length
858
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:Q91ZQ1}; Lipid-anchor {ECO:0000250|UniProtKB:Q91ZQ1}. Note=Localized in cone outer segment disk membranes. {ECO:0000250|UniProtKB:Q91ZQ1}.
uniprot
proteins