• Gene id: 115

Gene Summary

• Gene Symbol: ADCY9   Gene   UCSC   Ensembl
• Aliases: AC9, ACIX
• Gene name: adenylate cyclase 9
• Alternate names: adenylate cyclase type 9, ATP pyrophosphate-lyase 9, adenylate cyclase type IX, adenylyl cyclase 9, type IX ATP pyrophosphate-lyase,
• Gene location: 16p13.3 (4116441: 3953386)     Exons: 12     NC_000016.10
• Gene summary(Entrez): Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclas

SNPs

rs13206743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

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: O60503  
  • Name: Adenylate cyclase type 9 (EC 4.6.1.1) (ATP pyrophosphate lyase 9) (Adenylate cyclase type IX) (ACIX) (Adenylyl cyclase 9) (AC9)
  • Length: 1353  
  • Mass: 150701
  • Tissue specificity: Detected in skeletal muscle, pancreas, lung, heart, kidney, liver, brain and placenta (PubMed
• Sequence:

  MASPPHQQLLHHHSTEVSCDSSGDSNSVRVKINPKQLSSNSHPKHCKYSISSSCSSSGDSGGVPRRVGGGGRLRR
  QKKLPQLFERASSRWWDPKFDSVNLEEACLERCFPQTQRRFRYALFYIGFACLLWSIYFAVHMRSRLIVMVAPAL
  CFLLVCVGFFLFTFTKLYARHYAWTSLALTLLVFALTLAAQFQVLTPVSGRGDSSNLTATARPTDTCLSQVGSFS
  MCIEVLFLLYTVMHLPLYLSLCLGVAYSVLFETFGYHFRDEACFPSPGAGALHWELLSRGLLHGCIHAIGVHLFV
  MSQVRSRSTFLKVGQSIMHGKDLEVEKALKERMIHSVMPRIIADDLMKQGDEESENSVKRHATSSPKNRKKKSSI
  QKAPIAFRPFKMQQIEEVSILFADIVGFTKMSANKSAHALVGLLNDLFGRFDRLCEETKCEKISTLGDCYYCVAG
  CPEPRADHAYCCIEMGLGMIKAIEQFCQEKKEMVNMRVGVHTGTVLCGILGMRRFKFDVWSNDVNLANLMEQLGV
  AGKVHISEATAKYLDDRYEMEDGKVIERLGQSVVADQLKGLKTYLISGQRAKESRCSCAEALLSGFEVIDGSQVS
  SGPRGQGTASSGNVSDLAQTVKTFDNLKTCPSCGITFAPKSEAGAEGGAPQNGCQDEHKNSTKASGGPNPKTQNG
  LLSPPQEEKLTNSQTSLCEILQEKGRWAGVSLDQSALLPLRFKNIREKTDAHFVDVIKEDSLMKDYFFKPPINQF
  SLNFLDQELERSYRTSYQEEVIKNSPVKTFASPTFSSLLDVFLSTTVFLTLSTTCFLKYEAATVPPPPAALAVFS
  AALLLEVLSLAVSIRMVFFLEDVMACTKRLLEWIAGWLPRHCIGAILVSLPALAVYSHVTSEYETNIHFPVFTGS
  AALIAVVHYCNFCQLSSWMRSSLATVVGAGPLLLLYVSLCPDSSVLTSPLDAVQNFSSERNPCNSSVPRDLRRPA
  SLIGQEVVLVFFLLLLLVWFLNREFEVSYRLHYHGDVEADLHRTKIQSMRDQADWLLRNIIPYHVAEQLKVSQTY
  SKNHDSGGVIFASIVNFSEFYEENYEGGKECYRVLNELIGDFDELLSKPDYSSIEKIKTIGATYMAASGLNTAQA
  QDGSHPQEHLQILFEFAKEMMRVVDDFNNNMLWFNFKLRVGFNHGPLTAGVIGTTKLLYDIWGDTVNIASRMDTT
  GVECRIQVSEESYRVLSKMGYDFDYRGTVNVKGKGQMKTYLYPKCTDHRVIPQHQLSISPDIRVQVDGSIGRSPT
  DEIANLVPSVQYVDKTSLGSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCDETGIEEANELTKLNVS
  KSV

• Structural information:
  • Protein Domains: (394..52-)
    1 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099-)
    (1058..119-)
    2 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR029787  
  • Prosite: PS00452 PS50125
  • STRING: ENSP00000294016
• Other Databases: GeneCards:  ADCY9  Malacards:  ADCY9

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:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IMP	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:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0004016	adenylate cyclase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
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:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0004016	adenylate cyclase activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IMP	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:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0004016	adenylate cyclase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
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:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa04714	Thermogenesis
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa04062	Chemokine signaling pathway
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
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
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
hsa04976	Bile secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04927	Cortisol synthesis and secretion
hsa05110	Vibrio cholerae infection
hsa04213	Longevity regulating pathway - multiple species
hsa04923	Regulation of lipolysis in adipocytes
hsa04962	Vasopressin-regulated water reabsorption
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq