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Identification
HMDB Protein ID HMDBP00582
Secondary Accession Numbers
  • 5854
Name Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Synonyms
  1. cGMP phosphodiesterase 6C
Gene Name PDE6C
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function Not Available
Pathways
  • Purine metabolism
Reactions
Guanosine 3',5'-cyclic phosphate + Water → Guanosine monophosphate details
Cyclic GMP + Water → Guanosine monophosphate details
GO Classification
Biological Process
metabolic process
visual perception
phototransduction, visible light
retinal cone cell development
Cellular Component
plasma membrane
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
cyclic-nucleotide phosphodiesterase activity
3',5'-cyclic-nucleotide phosphodiesterase activity
phosphoric ester hydrolase activity
phosphoric diester hydrolase activity
Molecular Function
metal ion binding
3',5'-cyclic-GMP phosphodiesterase activity
cGMP binding
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
Cellular Location
  1. Cell membrane
  2. Lipid-anchor
  3. Cytoplasmic side (Potential)
Gene Properties
Chromosome Location 10
Locus 10q24
SNPs PDE6C
Gene Sequence
>2577 bp
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
Protein Properties
Number of Residues 858
Molecular Weight 99146.095
Theoretical pI 5.713
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESA
LCLELLWTVQEEGGTPEQGVHRALQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPT
SKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKKNSHFSDFMDKQTGYVTKNLL
ATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRS
QILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGE
VEPYKGPKTPDGREVNFYKIIDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICN
MMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIVGVATFYNRKDGKPFDEHDEY
ITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVD
VIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFEINVVEKFKV
PVEVLTRWMYTVRKGYRAVTYHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAF
CHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKTLLQDESLNIFQNLNKRQFET
VIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMT
ACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFI
DFVCTFVYKEFSRFHKEITPMLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKA
AEDSGGGDDKKSKTCLML
GenBank ID Protein 55661526
UniProtKB/Swiss-Prot ID P51160
UniProtKB/Swiss-Prot Entry Name PDE6C_HUMAN
PDB IDs Not Available
GenBank Gene ID AL157396
GeneCard ID PDE6C
GenAtlas ID PDE6C
HGNC ID HGNC:8787
References
General References
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
  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 ]