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Showing Protein Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (HMDBP00561)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 6 metabolites
Identification
HMDB Protein ID HMDBP00561
Secondary Accession Numbers
  • 5833
  • HMDBP07178
Name Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Synonyms
  1. GMP-PDE gamma
Gene Name PDE6H
Protein Type Enzyme
Biological Properties
General Function Involved in 3',5'-cyclic-nucleotide phosphodiesterase activity
Specific Function Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
Pathways
  • Purine metabolism
Reactions
Guanosine 3',5'-cyclic phosphate + Water → Guanosine monophosphate details
GO Classification
Biological Process
visual perception
activation of MAPK activity
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of G-protein coupled receptor protein signaling pathway
response to stimulus
Function
hydrolase activity, acting on ester bonds
binding
catalytic activity
hydrolase activity
gmp binding
cgmp binding
cyclic-nucleotide phosphodiesterase activity
3',5'-cyclic-nucleotide phosphodiesterase activity
nucleoside binding
purine nucleoside binding
phosphoric ester hydrolase activity
phosphoric diester hydrolase activity
Molecular Function
3',5'-cyclic-GMP phosphodiesterase activity
cGMP binding
enzyme inhibitor activity
Process
multicellular organismal process
system process
neurological system process
sensory perception
sensory perception of light stimulus
visual perception
Cellular Location
  1. Cytoplasmic
Gene Properties
Chromosome Location 12
Locus 12p13
SNPs PDE6H
Gene Sequence 
>252 bp
ATGAGTGACAACACTACTCTGCCTGCTCCAGCTTCAAACCAGGGTCCTACCACCCCACGC
AAAGGCCCTCCCAAGTTCAAGCAGAGGCAGACTCGCCAATTCAAGAGTAAACCTCCAAAG
AAAGGTGTGAAAGGATTTGGAGATGACATTCCAGGAATGGAGGGGCTAGGAACAGATATC
ACAGTGATTTGTCCATGGGAGGCATTCAGCCACCTGGAATTGCATGAGCTCGCTCAGTTT
GGGATTATCTGA
Protein Properties
Number of Residues 83
Molecular Weight 9074.36
Theoretical pI 9.248
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDI
TVICPWEAFSHLELHELAQFGII
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q13956
UniProtKB/Swiss-Prot Entry Name CNCG_HUMAN
PDB IDs Not Available
GenBank Gene ID D45399
GeneCard ID PDE6H
GenAtlas ID PDE6H
HGNC ID HGNC:8790
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Shimizu-Matsumoto A, Itoh K, Inazawa J, Nishida K, Matsumoto Y, Kinoshita S, Matsubara K, Okubo K: Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). Genomics. 1996 Feb 15;32(1):121-4. [PubMed:8786098 ]
  3. Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB: A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Ophthalmology. 2005 Jan;112(1):159-66. [PubMed:15629837 ]