Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

Details

Name
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Synonyms
  • 3.1.4.35
  • cGMP phosphodiesterase 6C
  • PDEA2
Gene Name
PDE6C
Organism
Humans
Amino acid sequence
>lcl|BSEQ0013359|Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESA
LCLELLWTVQEEGGTPEQGVHRALQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPT
SKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKKNSHFSDFMDKQTGYVTKNLL
ATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRS
QILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGE
VEPYKGPKTPDGREVNFYKIIDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICN
MMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIVGVATFYNRKDGKPFDEHDEY
ITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVD
VIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFEINVVEKFKV
PVEVLTRWMYTVRKGYRAVTYHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAF
CHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKTLLQDESLNIFQNLNKRQFET
VIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMT
ACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFI
DFVCTFVYKEFSRFHKEITPMLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKA
AEDSGGGDDKKSKTCLML
Number of residues
858
Molecular Weight
99146.095
Theoretical pI
Not Available
GO Classification
Functions
3',5'-cyclic-GMP phosphodiesterase activity / cGMP binding / metal ion binding
Processes
phototransduction, visible light / retinal cone cell development / visual perception
Components
plasma membrane
General Function
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
Specific Function
3',5'-cyclic-gmp phosphodiesterase activity
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0013360|Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' (PDE6C)
ATGGGTGAGATCAACCAAGTTGCCGTGGAGAAATACCTGGAGGAGAACCCTCAGTTTGCC
AAGGAGTACTTTGACAGGAAGTTGCGGGTGGAGGTGCTGGGAGAAATCTTCAAGAACAGC
CAGGTGCCAGTCCAGTCCAGCATGTCCTTCTCTGAGCTGACCCAGGTGGAGGAGTCAGCC
CTGTGCTTGGAGCTGCTGTGGACCGTGCAGGAGGAGGGGGGCACCCCAGAGCAGGGGGTT
CACAGGGCCCTGCAGAGGCTGGCCCACCTGCTCCAGGCTGACCGCTGCAGCATGTTCCTG
TGCCGGTCCCGGAACGGCATACCTGAGGTGGCCTCTAGGTTGCTGGATGTCACCCCCACC
TCCAAGTTTGAGGACAACCTGGTGGGCCCTGACAAAGAAGTTGTGTTTCCATTGGACATT
GGGATAGTGGGTTGGGCTGCTCACACGAAGAAAACTCATAATGTCCCAGATGTGAAAAAG
AACAGCCATTTTTCTGACTTCATGGACAAGCAAACTGGGTATGTCACTAAGAACCTGCTG
GCAACCCCGATCGTGGTGGGCAAGGAGGTTCTTGCTGTGATCATGGCAGTTAACAAAGTA
AATGCATCTGAATTTTCCAAACAGGATGAAGAGGTCTTTTCCAAATACCTCAACTTTGTG
TCTATCATCCTAAGGCTTCATCACACCAGCTACATGTACAATATTGAATCCCGAAGAAGC
CAGATCCTTATGTGGTCAGCCAATAAAGTATTTGAAGAACTCACAGATGTTGAGCGACAG
TTTCACAAAGCGCTCTACACGGTTAGATCATATCTGAACTGTGAACGATACTCCATTGGA
CTGCTGGACATGACCAAGGAGAAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAA
GTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGAAGTCAACTTTTATAAAATC
ATTGATTACATTTTACATGGAAAAGAAGAGATCAAAGTGATTCCGACGCCTCCTGCAGAC
CACTGGACACTCATTAGTGGGTTGCCAACATATGTTGCTGAAAATGGATTTATCTGTAAC
ATGATGAATGCCCCTGCGGATGAATACTTCACATTTCAGAAAGGACCTGTAGACGAAACT
GGTTGGGTCATTAAGAATGTTTTGTCCCTGCCTATTGTCAACAAGAAAGAAGATATTGTG
GGAGTGGCTACATTTTACAACAGGAAGGATGGAAAACCTTTCGATGAGCATGATGAATAC
ATTACCGAGACTCTCACACAATTTCTTGGATGGTCTCTTTTAAATACTGACACCTACGAT
AAGATGAATAAGCTAGAAAACAGAAAGGACATTGCTCAGGAAATGCTCATGAACCAAACC
AAAGCCACTCCTGAAGAAATTAAGTCCATTTTGAAATTTCAAGAGAAGTTAAATGTTGAT
GTAATTGACGACTGTGAAGAAAAACAACTTGTTGCAATTTTGAAAGAGGACTTGCCAGAC
CCACGCTCAGCAGAACTGTACGAATTCCGCTTCAGTGACTTCCCCCTTACAGAGCACGGA
TTGATTAAATGTGGAATACGACTGTTTTTTGAAATAAATGTGGTGGAGAAATTCAAAGTA
CCTGTAGAGGTTCTTACCAGATGGATGTACACTGTGAGGAAAGGGTACCGAGCTGTCACT
TACCACAATTGGCGGCATGGGTTCAACGTGGGGCAGACCATGTTTACTTTGCTGATGACA
GGAAGATTAAAGAAGTACTACACAGATCTCGAAGCCTTTGCCATGCTTGCTGCTGCTTTC
TGCCATGATATTGACCACAGAGGCACCAATAATTTGTACCAGATGAAATCCACGTCTCCA
TTAGCAAGACTTCATGGTTCTTCTATTTTGGAGAGGCACCACCTGGAGTACAGTAAGACT
CTGTTGCAGGATGAGAGTTTAAACATCTTCCAGAACCTAAATAAGCGGCAGTTTGAAACA
GTTATTCATTTGTTCGAGGTCGCAATAATAGCAACTGACCTGGCTTTATATTTCAAGAAG
AGGACCATGTTTCAAAAAATTGTTGATGCCTGTGAACAAATGCAAACGGAAGAAGAAGCC
ATCAAATATGTAACTGTTGATCCAACCAAGAAAGAGATTATCATGGCAATGATGATGACG
GCATGTGACTTGTCTGCTATTACCAAGCCCTGGGAGGTGCAAAGTCAGGTAGCACTTATG
GTTGCAAATGAATTTTGGGAACAAGGAGATCTGGAGAGAACAGTGTTGCAGCAACAACCC
ATTCCTATGATGGACAGAAACAAAAGAGATGAATTACCTAAACTTCAAGTTGGATTTATT
GATTTTGTTTGTACTTTTGTATATAAGGAGTTCTCACGGTTTCACAAAGAAATCACACCT
ATGCTGAGTGGTCTTCAGAATAACAGAGTAGAATGGAAATCACTAGCTGATGAGTATGAT
GCAAAGATGAAGGTCATTGAAGAGGAGGCAAAAAAGCAAGAAGGAGGAGCCGAAAAAGCT
GCTGAAGATTCAGGAGGTGGTGATGACAAAAAGTCCAAAACATGTTTAATGTTGTAA
Chromosome Location
10
Locus
10q23.33
External Identifiers
ResourceLink
UniProtKB IDP51160
UniProtKB Entry NamePDE6C_HUMAN
HGNC IDHGNC:8787
General References
  1. Viczian AS, Piriev NI, Farber DB: Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase. Gene. 1995 Dec 12;166(2):205-11. [PubMed:8543163]
  2. Piriev NI, Viczian AS, Ye J, Kerner B, Korenberg JR, Farber DB: Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24. Genomics. 1995 Aug 10;28(3):429-35. [PubMed:7490077]
  3. Feshchenko EA, Andreeva SG, Suslova VA, Smirnova EV, Zagranichny VE, Lipkin VM: Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement. FEBS Lett. 1996 Feb 26;381(1-2):149-52. [PubMed:8641425]
  4. Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J: The DNA sequence and comparative analysis of human chromosome 10. Nature. 2004 May 27;429(6990):375-81. [PubMed:15164054]
  5. Gao YQ, Danciger M, Longmuir R, Piriev NI, Zhao DY, Heckenlively JR, Fishman GA, Weleber RG, Jacobson SG, Stone EM, Farber DB: Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1818-22. [PubMed:10393054]
  6. Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. [PubMed:19615668]
  7. Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature. 2011 Jan 27;469(7331):539-42. doi: 10.1038/nature09639. Epub 2011 Jan 19. [PubMed:21248752]
  8. Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S: Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1. [PubMed:21127010]
  9. Gopalakrishna KN, Boyd K, Artemyev NO: Mechanisms of mutant PDE6 proteins underlying retinal diseases. Cell Signal. 2017 Sep;37:74-80. doi: 10.1016/j.cellsig.2017.06.002. Epub 2017 Jun 2. [PubMed:28583373]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00201CaffeineapprovedunknowninhibitorDetails
DB09283TrapidilexperimentalyesinhibitorDetails