PDE6G
entrez
5148
canonical
uniprot
P18545
canonical
ensembl
ENSG00000185527
resolver
ensp
ENSP00000328412
resolver
ensp
ENSP00000458167
resolver
ensp
ENSP00000461464
resolver
ensp
ENSP00000532118
resolver
ensp
ENSP00000532119
resolver
ensp
ENSP00000586681
resolver
ensp
ENSP00000586682
resolver
ensp
ENSP00000586683
resolver
enst
ENST00000331056
resolver
enst
ENST00000571004
resolver
enst
ENST00000571224
resolver
enst
ENST00000862059
resolver
enst
ENST00000862060
resolver
enst
ENST00000916622
resolver
enst
ENST00000916623
resolver
enst
ENST00000916624
resolver
genesymbol
PDE6G
resolver
genesymbol_syn
PDEG
resolver
hgnc
HGNC:8789
resolver
uniprot
Q3KP63
resolver
uniprot
Q7Z3U8
resolver
uniprot_entry
CNRG_HUMAN
resolver
uniprot_sec
Q3KP63
resolver
uniprot_sec
Q7Z3U8
resolver
amino_acid_sequence
MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPKKGVQGFGDDIPGMEGLGTDITVICPWEAFNHLELHELAQYGII
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 57 (RP57) [MIM:613582]: 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:20655036}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitory gamma 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. Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification. {ECO:0000250|UniProtKB:P04972}.
uniprot
proteins
mass_dalton
9643
uniprot
proteins
protein_family
Rod/cone cGMP-PDE gamma subunit family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
1965799
uniprot
proteins
pubmed
20655036
uniprot
proteins
pubmed
2161380
uniprot
proteins
pubmed
8125719
uniprot
proteins
sequence_length
87
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:P04972}.
uniprot
proteins