Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Also known as: PDE6C, PDEA2
Function
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
Classification
- Family (Pfam)
- PF01590 GAF, PF00233 PDEase_I
- InterPro
- GAF, GAF-like_dom_sf, HD/PDEase_dom, PDEase, PDEase_catalytic_dom, PDEase_catalytic_dom_sf, PDEase_CS
- Functional cluster
- Oxidoreductases, Catalases & Peroxidases
Experimental structures · PDB · 7
- 3JWQ X-ray 2.87A
- 3JWR X-ray 2.99A
- 5E8F X-ray 2.10A
- 9CXG EM 3.00A
- 9CXH EM 3.10A
- 9CXI EM 3.00A
- 9CXJ EM 3.10A
A predicted model is available from AlphaFold.
Gene Ontology · 9
- GO:0097381 photoreceptor disc membrane
- GO:0005886 plasma membrane
- GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity
- GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
- GO:0030553 cGMP binding
- GO:0046872 metal ion binding
- GO:0141162 negative regulation of cAMP/PKA signal transduction
- GO:0007165 signal transduction
- GO:0007601 visual perception
Disease associations
- cone dystrophy 4 MONDO:0013129
Drugs targeting this protein · 2
- PENTOXIFYLLINE inhibitor
- DIPYRIDAMOLE inhibitor
Related proteins · sequence + function similarity
- Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 0.99
- Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 0.99
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 0.98
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 0.98
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 0.98
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 0.98
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 0.98
- Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 0.97
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 0.96
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 0.96
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 0.95
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 0.93
Literature · 9 cited papers
- Mechanisms of mutant PDE6 proteins underlying retinal diseases. Cell. Signal. · 2017
- Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature · 2011
- Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum. Mol. Genet. · 2011
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. · 2009
- The DNA sequence and comparative analysis of human chromosome 10. Nature · 2004
- Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Invest. Ophthalmol. Vis. Sci. · 1999
- Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement. FEBS Lett. · 1996
- Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase. Gene · 1995
- Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24. Genomics · 1995
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