ADCY5 explained
Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.[1] [2]
Interactions
ADCY5 has been shown to interact with RGS2.[3]
Clinical significance
Mutations in ADCY5 are known to cause the following conditions:[4]
- Dyskinesia with orofacial involvement, autosomal recessive (DSKOR);
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD).
Further reading
- Yoshimura M, Cooper DM . Cloning and expression of a Ca(2+)-inhibitable adenylyl cyclase from NCB-20 cells . Proc. Natl. Acad. Sci. U.S.A. . 89 . 15 . 6716–20 . 1992 . 1379717 . 49574 . 10.1073/pnas.89.15.6716 . 1992PNAS...89.6716Y . free .
- Iwami G, Kawabe J, Ebina T, Cannon PJ, Homcy CJ, Ishikawa Y . Regulation of adenylyl cyclase by protein kinase A . J. Biol. Chem. . 270 . 21 . 12481–4 . 1995 . 7759492 . 10.1074/jbc.270.21.12481 . free .
- Haber N, Stengel D, Defer N, Roeckel N, Mattei MG, Hanoune J . Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI . Hum. Genet. . 94 . 1 . 69–73 . 1994 . 8034296 . 10.1007/BF02272844 . 6473135 .
- Kawabe J, Iwami G, Ebina T, Ohno S, Katada T, Ueda Y, Homcy CJ, Ishikawa Y . Differential activation of adenylyl cyclase by protein kinase C isoenzymes . J. Biol. Chem. . 269 . 24 . 16554–8 . 1994 . 10.1016/S0021-9258(19)89424-3 . 8206971 . free .
- Scholich K, Barbier AJ, Mullenix JB, Patel TB . Characterization of soluble forms of nonchimeric type V adenylyl cyclases . Proc. Natl. Acad. Sci. U.S.A. . 94 . 7 . 2915–20 . 1997 . 9096321 . 20297 . 10.1073/pnas.94.7.2915 . 1997PNAS...94.2915S . free .
- Sunahara RK, Dessauer CW, Whisnant RE, Kleuss C, Gilman AG . Interaction of Gsalpha with the cytosolic domains of mammalian adenylyl cyclase . J. Biol. Chem. . 272 . 35 . 22265–71 . 1997 . 9268375 . 10.1074/jbc.272.35.22265 . free .
- Scholich K, Wittpoth C, Barbier AJ, Mullenix JB, Patel TB . Identification of an intramolecular interaction between small regions in type V adenylyl cyclase that influences stimulation of enzyme activity by Gsα . Proc. Natl. Acad. Sci. U.S.A. . 94 . 18 . 9602–7 . 1997 . 9275169 . 23231 . 10.1073/pnas.94.18.9602 . 1997PNAS...94.9602S . free .
- Dessauer CW, Tesmer JJ, Sprang SR, Gilman AG . Identification of a Gialpha binding site on type V adenylyl cyclase . J. Biol. Chem. . 273 . 40 . 25831–9 . 1998 . 9748257 . 10.1074/jbc.273.40.25831 . free .
- Barcova M, Speth C, Kacani L, Uberall F, Stoiber H, Dierich MP . Involvement of adenylate cyclase and p70(S6)-kinase activation in IL-10 up-regulation in human monocytes by gp41 envelope protein of human immunodeficiency virus type 1 . Pflügers Arch. . 437 . 4 . 538–46 . 1999 . 10089566 . 10.1007/s004240050815 . 7620262 .
- Speth C, Joebstl B, Barcova M, Dierich MP . HIV-1 envelope protein gp41 modulates expression of interleukin-10 and chemokine receptors on monocytes, astrocytes and neurones . AIDS . 14 . 6 . 629–36 . 2000 . 10807185 . 10.1097/00002030-200004140-00001 . 22105709 . free .
- Patke CL, Shearer WT . gp120- and TNF-alpha-induced modulation of human B cell function: proliferation, cyclic AMP generation, Ig production, and B-cell receptor expression . J. Allergy Clin. Immunol. . 105 . 5 . 975–82 . 2000 . 10808179 . 10.1067/mai.2000.105315 . free .
- Patrizio M, Colucci M, Levi G . Human immunodeficiency virus type 1 Tat protein decreases cyclic AMP synthesis in rat microglia cultures . J. Neurochem. . 77 . 2 . 399–407 . 2001 . 11299302 . 10.1046/j.1471-4159.2001.00249.x . 24053412 . free .
- Côté M, Guillon G, Payet MD, Gallo-Payet N . Expression and regulation of adenylyl cyclase isoforms in the human adrenal gland . J. Clin. Endocrinol. Metab. . 86 . 9 . 4495–503 . 2001 . 10.1210/jcem.86.9.7837 . 11549699 . free .
- Speth C, Schabetsberger T, Mohsenipour I, Stöckl G, Würzner R, Stoiber H, Lass-Flörl C, Dierich MP . Mechanism of Human Immunodeficiency Virus-Induced Complement Expression in Astrocytes and Neurons . J. Virol. . 76 . 7 . 3179–88 . 2002 . 11884542 . 136041 . 10.1128/JVI.76.7.3179-3188.2002 .
- Ludwig MG, Seuwen K . Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms . J. Recept. Signal Transduct. Res. . 22 . 1–4 . 79–110 . 2003 . 12503609 . 10.1081/RRS-120014589 . 36697419 .
- Salim S, Sinnarajah S, Kehrl JH, Dessauer CW . Identification of RGS2 and type V adenylyl cyclase interaction sites . J. Biol. Chem. . 278 . 18 . 15842–9 . 2003 . 12604604 . 10.1074/jbc.M210663200 . free .
- Bauman AL, Soughayer J, Nguyen BT, Willoughby D, Carnegie GK, Wong W, Hoshi N, Langeberg LK, Cooper DM, Dessauer CW, Scott JD . Dynamic regulation of cAMP synthesis through anchored PKA-adenylyl cyclase V/VI complexes . Mol. Cell . 23 . 6 . 925–31 . 2006 . 16973443 . 3941446 . 10.1016/j.molcel.2006.07.025 .
- Wang SC, Lai HL, Chiu YT, Ou R, Huang CL, Chern Y . Regulation of type V adenylate cyclase by Ric8a, a guanine nucleotide exchange factor . Biochem J . 406 . 3 . 383–8 . 2007 . 17593019 . 2049038 . 10.1042/BJ20070512 .
Notes and References
- Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D, Wisser H . Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues . Clin Chim Acta . 285 . 1–2 . 155–61 . October 1999 . 10481931 . 10.1016/S0009-8981(99)00067-4 .
- Web site: Entrez Gene: ADCY5 adenylate cyclase 5.
- Salim S, Sinnarajah S, Kehrl JH, Dessauer CW . Identification of RGS2 and type V adenylyl cyclase interaction sites . J. Biol. Chem. . 278 . 18 . 15842–9 . May 2003 . 12604604 . 10.1074/jbc.M210663200 . free .
- Web site: UniProt . 2023-07-04 . www.uniprot.org.