PDE6A

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.[5][6][7]

PDE6A
Identifiers
Aliases	PDE6A, CGPR-A, PDEA, RP43, phosphodiesterase 6A
External IDs	OMIM: 180071 MGI: 97524 HomoloGene: 380 GeneCards: PDE6A
EC number	3.1.4.35
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q32 Start 149,857,953 bp[1] End 149,944,793 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 E1|18 34.41 cM Start 61,220,315 bp[2] End 61,289,924 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphoric diester hydrolase activity • 3',5'-cyclic-GMP phosphodiesterase activity • hydrolase activity • 3',5'-cyclic-nucleotide phosphodiesterase activity • metal ion binding Cellular component • membrane • cell membrane • photoreceptor disc membrane Biological process • response to stimulus • GMP metabolic process • regulation of cytosolic calcium ion concentration • visual perception • signal transduction • regulation of rhodopsin mediated signaling pathway • G-protein coupled receptor signaling pathway • rhodopsin mediated signaling pathway • retina development in camera-type eye • Wnt signaling pathway, calcium modulating pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5145	225600
Ensembl	ENSG00000132915	ENSMUSG00000024575
UniProt	P16499	P27664
RefSeq (mRNA)	NM_000440	NM_146086
RefSeq (protein)	NP_000431	n/a
Location (UCSC)	Chr 5: 149.86 – 149.94 Mb	Chr 18: 61.22 – 61.29 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

PDE6A encodes the cyclic-GMP (cGMP) specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits.cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and gunylate cyclase cGMP synthesis. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000132915 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024575 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL (Apr 1990). "Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene". Genomics. 6 (2): 272–83. doi:10.1016/0888-7543(90)90567-E. PMID 2155175.
6. "Entrez Gene: PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha".
7. Gulati S, Palczewski K, Engel A, Stahlberg H, Kovacik L (Feb 2019). "Cryo-EM structure of phosphodiesterase 6 reveals insights into the allosteric regulation of type I phosphodiesterases". Science Advances. 27 (5). doi:10.1126/sciadv.aav4322. PMC 6392808. PMID 30820458.

Further reading

• Pittler SJ, Baehr W (1991). "The molecular genetics of retinal photoreceptor proteins involved in cGMP metabolism". Prog. Clin. Biol. Res. 362: 33–66. PMID 1672236.
• Takemoto DJ, Cunnick JM (1990). "Visual transduction in rod outer segments". Cell. Signal. 2 (2): 99–104. doi:10.1016/0898-6568(90)90013-Z. PMID 2169289.
• Catty P, Pfister C, Bruckert F, Deterre P (1992). "The cGMP phosphodiesterase-transducin complex of retinal rods. Membrane binding and subunits interactions". J. Biol. Chem. 267 (27): 19489–93. PMID 1326553.
• Huang SH, Pittler SJ, Huang X, et al. (1996). "Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase". Nat. Genet. 11 (4): 468–71. doi:10.1038/ng1295-468. PMID 7493036.
• Warrington JA, Bengtsson U (1995). "High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis". Genomics. 24 (2): 395–8. doi:10.1006/geno.1994.1636. PMID 7698768.
• Mohamed MK, Taylor RE, Feinstein DS, et al. (1998). "Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase alpha-subunit". J. Mol. Neurosci. 10 (3): 235–50. doi:10.1007/BF02761777. PMID 9770645.
• Mou H, Grazio HJ, Cook TA, et al. (1999). "cGMP binding to noncatalytic sites on mammalian rod photoreceptor phosphodiesterase is regulated by binding of its gamma and delta subunits". J. Biol. Chem. 274 (26): 18813–20. doi:10.1074/jbc.274.26.18813. PMID 10373499.
• Dryja TP, Rucinski DE, Chen SH, Berson EL (1999). "Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 40 (8): 1859–65. PMID 10393062.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Pittler SJ, Zhang Y, Chen S, et al. (2004). "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity". J. Biol. Chem. 279 (19): 19800–7. doi:10.1074/jbc.M401864200. PMID 15001570.
• Riazuddin SA, Zulfiqar F, Zhang Q, et al. (2006). "Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families". Mol. Vis. 12: 1283–91. PMID 17110911.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview