ADCY5

ADCY5
Identifiers
Aliases	ADCY5, AC5, FDFM, adenylate cyclase 5, DSKOD
External IDs	OMIM: 600293; MGI: 99673; HomoloGene: 11213; GeneCards: ADCY5; OMA:ADCY5 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q21.1 Start 123,282,296 bp End 123,449,090 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 B3 Start 34,975,247 bp End 35,126,108 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart gastric mucosa right coronary artery popliteal artery tibial arteries right auricle left ventricle putamen nucleus accumbens cardiac muscle tissue of right atrium Top expressed in olfactory tubercle nucleus accumbens ascending aorta globus pallidus superior frontal gyrus nucleus of stria terminalis aortic valve lateral septal nucleus Temporal Lobe Amygdala More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding adenylate cyclase binding metal ion binding lyase activity protein heterodimerization activity adenylate cyclase activity phosphorus-oxygen lyase activity ATP binding scaffold protein binding guanylate cyclase activity Cellular component integral component of membrane cell projection membrane plasma membrane cilium intermediate filament cytoskeleton guanylate cyclase complex, soluble integral component of plasma membrane Biological process cAMP biosynthetic process G protein-coupled adenosine receptor signaling pathway adenylate cyclase-activating dopamine receptor signaling pathway regulation of insulin secretion involved in cellular response to glucose stimulus intracellular signal transduction cellular response to forskolin adenylate cyclase-activating G protein-coupled receptor signaling pathway locomotory behavior neuromuscular process controlling balance positive regulation of cytosolic calcium ion concentration cellular response to glucagon stimulus cyclic nucleotide biosynthetic process adenylate cyclase-inhibiting dopamine receptor signaling pathway renal water homeostasis cGMP biosynthetic process adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway G protein-coupled receptor signaling pathway activation of adenylate cyclase activity activation of protein kinase A activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 111 224129 Ensembl ENSG00000173175 ENSMUSG00000022840 UniProt O95622 P84309 RefSeq (mRNA) NM_001199642 NM_183357 NM_001378259 NM_001012765 RefSeq (protein) NP_001186571 NP_899200 NP_001365188 NP_001012783 Location (UCSC) Chr 3: 123.28 – 123.45 Mb Chr 16: 34.98 – 35.13 Mb PubMed search
Wikidata
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Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.

Interactions

ADCY5 has been shown to interact with RGS2.

Clinical significance

Mutations in ADCY5 are known to cause the following conditions:

• Dyskinesia with orofacial involvement, autosomal recessive (DSKOR);
• Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD).

External links

• Human ADCY5 genome location and ADCY5 gene details page in the UCSC Genome Browser.

Further reading

• Yoshimura M, Cooper DM (1992). "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. Bibcode:1992PNAS...89.6716Y. doi:10.1073/pnas.89.15.6716. PMC 49574. PMID 1379717.
• Iwami G, Kawabe J, Ebina T, Cannon PJ, Homcy CJ, Ishikawa Y (1995). "Regulation of adenylyl cyclase by protein kinase A". J. Biol. Chem. 270 (21): 12481–4. doi:10.1074/jbc.270.21.12481. PMID 7786392.
• Haber N, Stengel D, Defer N, Roeckel N, Mattei MG, Hanoune J (1994). "Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI". Hum. Genet. 94 (1): 69–73. doi:10.1007/BF02272844. PMID 8034296. S2CID 6473135.
• Kawabe J, Iwami G, Ebina T, Ohno S, Katada T, Ueda Y, Homcy CJ, Ishikawa Y (1994). "Differential activation of adenylyl cyclase by protein kinase C isoenzymes". J. Biol. Chem. 269 (24): 16554–8. doi:10.1016/S0021-9258(19)89424-3. PMID 8206971.
• Scholich K, Barbier AJ, Mullenix JB, Patel TB (1997). "Characterization of soluble forms of nonchimeric type V adenylyl cyclases". Proc. Natl. Acad. Sci. U.S.A. 94 (7): 2915–20. Bibcode:1997PNAS...94.2915S. doi:10.1073/pnas.94.7.2915. PMC 20297. PMID 9096321.
• Sunahara RK, Dessauer CW, Whisnant RE, Kleuss C, Gilman AG (1997). "Interaction of Gsalpha with the cytosolic domains of mammalian adenylyl cyclase". J. Biol. Chem. 272 (35): 22265–71. doi:10.1074/jbc.272.35.22265. PMID 9268375.
• Scholich K, Wittpoth C, Barbier AJ, Mullenix JB, Patel TB (1997). "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. Bibcode:1997PNAS...94.9602S. doi:10.1073/pnas.94.18.9602. PMC 23231. PMID 9275169.
• Dessauer CW, Tesmer JJ, Sprang SR, Gilman AG (1998). "Identification of a Gialpha binding site on type V adenylyl cyclase". J. Biol. Chem. 273 (40): 25831–9. doi:10.1074/jbc.273.40.25831. PMID 9748257.
• Barcova M, Speth C, Kacani L, Uberall F, Stoiber H, Dierich MP (1999). "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. doi:10.1007/s004240050815. PMID 10089566. S2CID 7620262.
• Speth C, Joebstl B, Barcova M, Dierich MP (2000). "HIV-1 envelope protein gp41 modulates expression of interleukin-10 and chemokine receptors on monocytes, astrocytes and neurones". AIDS. 14 (6): 629–36. doi:10.1097/00002030-200004140-00001. PMID 10807185. S2CID 22105709.
• Patke CL, Shearer WT (2000). "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. doi:10.1067/mai.2000.105315. PMID 10808179.
• Patrizio M, Colucci M, Levi G (2001). "Human immunodeficiency virus type 1 Tat protein decreases cyclic AMP synthesis in rat microglia cultures". J. Neurochem. 77 (2): 399–407. doi:10.1046/j.1471-4159.2001.00249.x. PMID 11299302. S2CID 24053412.
• Côté M, Guillon G, Payet MD, Gallo-Payet N (2001). "Expression and regulation of adenylyl cyclase isoforms in the human adrenal gland". J. Clin. Endocrinol. Metab. 86 (9): 4495–503. doi:10.1210/jcem.86.9.7837. PMID 11549699.
• Speth C, Schabetsberger T, Mohsenipour I, Stöckl G, Würzner R, Stoiber H, Lass-Flörl C, Dierich MP (2002). "Mechanism of Human Immunodeficiency Virus-Induced Complement Expression in Astrocytes and Neurons". J. Virol. 76 (7): 3179–88. doi:10.1128/JVI.76.7.3179-3188.2002. PMC 136041. PMID 11884542.
• Ludwig MG, Seuwen K (2003). "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. doi:10.1081/RRS-120014589. PMID 12503609. S2CID 36697419.
• Salim S, Sinnarajah S, Kehrl JH, Dessauer CW (2003). "Identification of RGS2 and type V adenylyl cyclase interaction sites". J. Biol. Chem. 278 (18): 15842–9. doi:10.1074/jbc.M210663200. PMID 12604604.
• Bauman AL, Soughayer J, Nguyen BT, Willoughby D, Carnegie GK, Wong W, Hoshi N, Langeberg LK, Cooper DM, Dessauer CW, Scott JD (2006). "Dynamic regulation of cAMP synthesis through anchored PKA-adenylyl cyclase V/VI complexes". Mol. Cell. 23 (6): 925–31. doi:10.1016/j.molcel.2006.07.025. PMC 3941446. PMID 16973443.
• Wang SC, Lai HL, Chiu YT, Ou R, Huang CL, Chern Y (2007). "Regulation of type V adenylate cyclase by Ric8a, a guanine nucleotide exchange factor". Biochem J. 406 (3): 383–8. doi:10.1042/BJ20070512. PMC 2049038. PMID 17593019.