ADCY5

Protein-coding gene in the species Homo sapiens
ADCY5
Identifiers
AliasesADCY5, AC5, FDFM, adenylate cyclase 5, DSKOD
External IDsOMIM: 600293; MGI: 99673; HomoloGene: 11213; GeneCards: ADCY5; OMA:ADCY5 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ADCY5
Genomic location for ADCY5
Band3q21.1Start123,282,296 bp[1]
End123,449,090 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for ADCY5
Genomic location for ADCY5
Band16|16 B3Start34,975,247 bp[2]
End35,126,108 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 16: 34.98 – 35.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.[5][6]

Interactions

ADCY5 has been shown to interact with RGS2.[7]

Clinical significance

Mutations in ADCY5 are known to cause the following conditions:[8]

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173175 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022840 – 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. ^ Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D, Wisser H (October 1999). "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. doi:10.1016/S0009-8981(99)00067-4. PMID 10481931.
  6. ^ "Entrez Gene: ADCY5 adenylate cyclase 5".
  7. ^ Salim S, Sinnarajah S, Kehrl JH, Dessauer CW (May 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.
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-07-04.

External links

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 7759492.
  • 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.
  • v
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  • 1azs: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE
    1azs: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE
  • 1cjk: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH ADENOSINE 5'-(ALPHA THIO)-TRIPHOSPHATE (RP), MG, AND MN
    1cjk: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH ADENOSINE 5'-(ALPHA THIO)-TRIPHOSPHATE (RP), MG, AND MN
  • 1cjt: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MN, AND MG
    1cjt: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MN, AND MG
  • 1cju: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP AND MG
    1cju: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP AND MG
  • 1cjv: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MG, AND ZN
    1cjv: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MG, AND ZN
  • 1cs4: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2'-DEOXY-ADENOSINE 3'-MONOPHOSPHATE, PYROPHOSPHATE AND MG
    1cs4: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2'-DEOXY-ADENOSINE 3'-MONOPHOSPHATE, PYROPHOSPHATE AND MG
  • 1cul: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2',5'-DIDEOXY-ADENOSINE 3'-TRIPHOSPHATE AND MG
    1cul: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2',5'-DIDEOXY-ADENOSINE 3'-TRIPHOSPHATE AND MG
  • 1tl7: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With 2'(3')-O-(N-methylanthraniloyl)-guanosine 5'-triphosphate and Mn
    1tl7: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With 2'(3')-O-(N-methylanthraniloyl)-guanosine 5'-triphosphate and Mn
  • 1u0h: STRUCTURAL BASIS FOR THE INHIBITION OF MAMMALIAN ADENYLYL CYCLASE BY MANT-GTP
    1u0h: STRUCTURAL BASIS FOR THE INHIBITION OF MAMMALIAN ADENYLYL CYCLASE BY MANT-GTP
  • 2gvd: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With TNP-ATP and Mn
    2gvd: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With TNP-ATP and Mn
  • 2gvz: Crystal Structure of Complex of Gs- with The Catalytic Domains of Mammalian Adenylyl Cyclase: Complex with MANT-ATP and Mn
    2gvz: Crystal Structure of Complex of Gs- with The Catalytic Domains of Mammalian Adenylyl Cyclase: Complex with MANT-ATP and Mn
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