• Gene id: 111

Gene Summary

• Gene Symbol: ADCY5   Gene   UCSC   Ensembl
• Aliases: AC5, FDFM
• Gene name: adenylate cyclase 5
• Alternate names: adenylate cyclase type 5, ATP pyrophosphate-lyase 5, adenylate cyclase type V, adenylyl cyclase 5, epididymis secretory sperm binding protein,
• Gene location: 3q21.1 (123449089: 123282295)     Exons: 30     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha sub
• OMIM: 300840

SNPs

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: O95622  
  • Name: Adenylate cyclase type 5 (EC 4.6.1.1) (ATP pyrophosphate lyase 5) (Adenylate cyclase type V) (Adenylyl cyclase 5) (AC5)
  • Length: 1261  
  • Mass: 138908
  • Tissue specificity: Detected in pancreas islets (at protein level). Detected in pancreas islets. {ECO
• Sequence:

  MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLASRWRS
  DDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSAAAAASAGGTE
  VRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDK
  LERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGL
  ACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAIALRTNAQDQFL
  LKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINA
  KQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSG
  LPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGK
  AGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWG
  AERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLE
  KKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSR
  KIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSP
  WPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTS
  QCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAA
  HFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTI
  GSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWG
  NTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS

• Structural information:
  • Protein Domains: (469..59-)
    1 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099-)
    (1071..121-)
    2 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR032628  IPR030672  IPR009398   IPR029787  
  • Prosite: PS00452 PS50125
  • STRING: ENSP00000419361
• Other Databases: GeneCards:  ADCY5  Malacards:  ADCY5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0004016	adenylate cyclase activity	IBA	molecular function
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA	biological process
GO:0006171	cAMP biosynthetic process	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:1904322	cellular response to forskolin	IDA	biological process
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:1904322	cellular response to forskolin	IDA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	biological process
GO:0004016	adenylate cyclase activity	IMP	molecular function
GO:0007204	positive regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0006171	cAMP biosynthetic process	IMP	biological process
GO:0005929	cilium	ISS	cellular component
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0009190	cyclic nucleotide biosynthetic process	IEA	biological process
GO:0016849	phosphorus-oxygen lyase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS	biological process
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0034199	activation of protein kinase A activity	TAS	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008179	adenylate cyclase binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001973	G protein-coupled adenosine receptor signaling pathway	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0008179	adenylate cyclase binding	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa05034	Alcoholism
hsa04022	cGMP-PKG signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa00230	Purine metabolism
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04072	Phospholipase D signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04114	Oocyte meiosis
hsa04611	Platelet activation
hsa04926	Relaxin signaling pathway
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04916	Melanogenesis
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa05414	Dilated cardiomyopathy
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04914	Progesterone-mediated oocyte maturation
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa04540	Gap junction
hsa04211	Longevity regulating pathway
hsa01522	Endocrine resistance
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa05031	Amphetamine addiction
hsa04924	Renin secretion
hsa04976	Bile secretion
hsa04927	Cortisol synthesis and secretion
hsa04213	Longevity regulating pathway - multiple species
hsa05030	Cocaine addiction
hsa04923	Regulation of lipolysis in adipocytes
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Familial dyskinesia with facial myokymia	KEGG:H02389
Familial dyskinesia with facial myokymia	KEGG:H02389
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq