PDE6H
entrez
5149
canonical
uniprot
Q13956
canonical
ensembl
ENSG00000139053
resolver
ensp
ENSP00000266395
resolver
ensp
ENSP00000615570
resolver
enst
ENST00000266395
resolver
enst
ENST00000945511
resolver
genesymbol
PDE6H
resolver
hgnc
HGNC:8790
resolver
uniprot
Q52LY7
resolver
uniprot_entry
CNCG_HUMAN
resolver
uniprot_sec
Q52LY7
resolver
amino_acid_sequence
MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII
uniprot
proteins
disease_involvement
DISEASE: Achromatopsia 6 (ACHM6) [MIM:610024]: An autosomal recessive form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by colorblindness, low visual acuity, photophobia and nystagmus. ACHM6 patients have incomplete loss of color vision, and non-progressive reduced visual acuity. {ECO:0000269|PubMed:15629837}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitory gamma subunit of the cone-specific cGMP phosphodiesterase (PDE6) complex which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade (By similarity). The PDE6 holoenzyme consists of two catalytic alpha subunits (PDE6C) and two inhibitory gamma subunits (PDE6H) (By similarity). 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). Inhibition by the gamma subunit is relatively dynamic and less tightly coupled than in rods, allowing transient access to the catalytic pocket and facilitating the rapid phototransduction kinetics characteristic of cones (By similarity). {ECO:0000250|UniProtKB:P22571, ECO:0000250|UniProtKB:P51160, ECO:0000250|UniProtKB:P61249}.
uniprot
proteins
mass_dalton
9074
uniprot
proteins
protein_family
Rod/cone cGMP-PDE gamma subunit family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15629837
uniprot
proteins
pubmed
8786098
uniprot
proteins
sequence_length
83
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:P61249}. Note=Localized in cone outer segment disk membranes. {ECO:0000250|UniProtKB:P61249}.
uniprot
proteins