PDE6G

PDE6G
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JWR
Identifiers
Aliases	PDE6G , PDEG, RP57, phosphodiesterase 6G
External IDs	OMIM: 180073; MGI: 97526; HomoloGene: 1955; GeneCards: PDE6G; OMA:PDE6G - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.3 Start 81,650,459 bp [1] End 81,663,112 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E2|11 84.14 cM Start 120,338,431 bp [2] End 120,344,326 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad granulocyte lymph node spleen retinal pigment epithelium monocyte secondary oocyte blood bone marrow cell Top expressed in neural layer of retina epithelium of lens pineal gland retinal pigment epithelium corneal stroma gastrula iris outer nuclear layer right ventricle ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function enzyme inhibitor activity spectrin binding cGMP binding protein binding 3',5'-cyclic-GMP phosphodiesterase activity 3',5'-cyclic-nucleotide phosphodiesterase activity hydrolase activity Cellular component plasma membrane photoreceptor disc membrane photoreceptor outer segment membrane Biological process positive regulation of G protein-coupled receptor signaling pathway positive regulation of epidermal growth factor receptor signaling pathway visual perception response to stimulus regulation of rhodopsin mediated signaling pathway negative regulation of catalytic activity Wnt signaling pathway, calcium modulating pathway rhodopsin mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5148 18588 Ensembl ENSG00000185527 ENSMUSG00000025386 UniProt P18545 P09174 RefSeq (mRNA) NM_002602 NM_001365724 NM_001365725 NM_012065 RefSeq (protein) NP_002593 NP_001352653 NP_001352654 NP_036197 Location (UCSC) Chr 17: 81.65 – 81.66 Mb Chr 11: 120.34 – 120.34 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma is an enzyme that in humans is encoded by the PDE6G gene. ^{[5] [6] [7]}

Interactions

PDE6G has been shown to interact with Beta adrenergic receptor kinase ^[8] and Src. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000185527 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025386 – 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 (February 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: PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma".
7. Gulati S, Palczewski K, Engel A, Stahlberg H, Kovacik L (February 2019). "Cryo-EM structure of phosphodiesterase 6 reveals insights into the allosteric regulation of type I phosphodiesterases". Science Advances. 5 (2) eaav4322. Bibcode:2019SciA....5.4322G. doi:10.1126/sciadv.aav4322. PMC   6392808 . PMID   30820458.
8. Wan KF, Sambi BS, Tate R, Waters C, Pyne NJ (May 2003). "The inhibitory gamma subunit of the type 6 retinal cGMP phosphodiesterase functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor". The Journal of Biological Chemistry. 278 (20): 18658–63. doi: 10.1074/jbc.M212103200 . PMID   12624098. S2CID   25824189.

Further reading

• Cotran PR, Bruns GA, Berson EL, Dryja TP (November 1991). "Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase". Experimental Eye Research. 53 (5): 557–64. doi:10.1016/0014-4835(91)90213-X. PMID   1683837.
• Piriev NI, Purishko VA, Khramtsov NV, Lipkin VM (1991). "[The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase]" [The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase]. Doklady Akademii Nauk SSSR. 315 (1): 229–31. PMID   1965799.
• Tuteja N, Danciger M, Klisak I, Tuteja R, Inana G, Mohandas T, Sparkes RS, Farber DB (April 1990). "Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina". Gene. 88 (2): 227–32. doi:10.1016/0378-1119(90)90035-P. PMID   2161380.
• Piriev NI, Khramtsov NV, Lipkin VM (December 1994). "Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells". Gene. 151 (1–2): 297–301. doi:10.1016/0378-1119(94)90674-2. PMID   7828894.
• Hahn LB, Berson EL, Dryja TP (March 1994). "Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa". Investigative Ophthalmology & Visual Science. 35 (3): 1077–82. PMID   8125719.
• Dollfus H, Mattei MG, Rozet JM, Delrieu O, Munnich A, Kaplan J (August 1993). "Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)". Genomics. 17 (2): 526–8. doi:10.1006/geno.1993.1364. PMID   8406511.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Wan KF, Sambi BS, Frame M, Tate R, Pyne NJ (October 2001). "The inhibitory gamma subunit of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase is a novel intermediate regulating p42/p44 mitogen-activated protein kinase signaling in human embryonic kidney 293 cells". The Journal of Biological Chemistry. 276 (41): 37802–8. doi: 10.1074/jbc.M105087200 . PMID   11502744.
• Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (June 2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Molecular Vision. 8: 196–204. PMID   12107411.
• Wan KF, Sambi BS, Tate R, Waters C, Pyne NJ (May 2003). "The inhibitory gamma subunit of the type 6 retinal cGMP phosphodiesterase functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor". The Journal of Biological Chemistry. 278 (20): 18658–63. doi: 10.1074/jbc.M212103200 . PMID   12624098. S2CID   25824189.
• Morin F, Vannier B, Houdart F, Regnacq M, Berges T, Voisin P (September 2003). "A proline-rich domain in the gamma subunit of phosphodiesterase 6 mediates interaction with SH3-containing proteins". Molecular Vision. 9: 449–59. PMID   14502124.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.

External links

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