• Gene id: 113

Gene Summary

• Gene Symbol: ADCY7   Gene   UCSC   Ensembl
• Aliases: AC7
• Gene name: adenylate cyclase 7
• Alternate names: adenylate cyclase type 7, ATP pyrophosphate-lyase 7, adenylate cyclase type VII, adenylyl cyclase 7,
• Gene location: 16q12.1 (50246137: 50318134)     Exons: 30     NC_000016.10
• Gene summary(Entrez): This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characteriz
• OMIM: 600385

SNPs

rs11749327

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

NC_000005.10   g.457146C>A
NC_000005.9   g.457261C>A|SEQ=[C/A]|GENE=EXOC3

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: P51828  
  • Name: Adenylate cyclase type 7 (EC 4.6.1.1) (ATP pyrophosphate lyase 7) (Adenylate cyclase type VII) (Adenylyl cyclase 7)
  • Length: 1080  
  • Mass: 120308
• Sequence:

  MPAKGRYFLNEGEEGPDQDALYEKYQLTSQHGPLLLTLLLVAATACVALIIIAFSQGDPSRHQAILGMAFLVLAV
  FAALSVLMYVECLLRRWLRALALLTWACLVALGYVLVFDAWTKAACAWEQVPFFLFIVFVVYTLLPFSMRGAVAV
  GAVSTASHLLVLGSLMGGFTTPSVRVGLQLLANAVIFLCGNLTGAFHKHQMQDASRDLFTYTVKCIQIRRKLRIE
  KRQQENLLLSVLPAHISMGMKLAIIERLKEHGDRRCMPDNNFHSLYVKRHQNVSILYADIVGFTQLASDCSPKEL
  VVVLNELFGKFDQIAKANECMRIKILGDCYYCVSGLPVSLPTHARNCVKMGLDMCQAIKQVREATGVDINMRVGI
  HSGNVLCGVIGLRKWQYDVWSHDVSLANRMEAAGVPGRVHITEATLKHLDKAYEVEDGHGQQRDPYLKEMNIRTY
  LVIDPRSQQPPPPSQHLPRPKGDAALKMRASVRMTRYLESWGAARPFAHLNHRESVSSGETHVPNGRRPKSVPQR
  HRRTPDRSMSPKGRSEDDSYDDEMLSAIEGLSSTRPCCSKSDDFYTFGSIFLEKGFEREYRLAPIPRARHDFACA
  SLIFVCILLVHVLLMPRTAALGVSFGLVACVLGLVLGLCFATKFSRCCPARGTLCTISERVETQPLLRLTLAVLT
  IGSLLTVAIINLPLMPFQVPELPVGNETGLLAASSKTRALCEPLPYYTCSCVLGFIACSVFLRMSLEPKVVLLTV
  ALVAYLVLFNLSPCWQWDCCGQGLGNLTKPNGTTSGTPSCSWKDLKTMTNFYLVLFYITLLTLSRQIDYYCRLDC
  LWKKKFKKEHEEFETMENVNRLLLENVLPAHVAAHFIGDKLNEDWYHQSYDCVCVMFASVPDFKVFYTECDVNKE
  GLECLRLLNEIIADFDELLLKPKFSGVEKIKTIGSTYMAAAGLSVASGHENQELERQHAHIGVMVEFSIALMSKL
  DGINRHSFNSFRLRVGINHGPVIAGVIGARKPQYDIWGNTVNVASRMESTGELGKIQVTEETCTILQGLGYSCEC
  RGLINVKGKGELRTYFVCTDTAKFQGLGLN

• Structural information:
  • Protein Domains: (279..40-)
    1 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099-)
    (879..102-)
    2 (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR032628  IPR030672  IPR009398   IPR029787  
  • Prosite: PS00452 PS50125
  • STRING: ENSP00000378187
• Other Databases: GeneCards:  ADCY7  Malacards:  ADCY7

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:0071361	cellular response to ethanol	IDA	biological process
GO:0002819	regulation of adaptive immune response	ISS	biological process
GO:0071285	cellular response to lithium ion	ISS	biological process
GO:0004016	adenylate cyclase activity	IMP	molecular function
GO:0004016	adenylate cyclase activity	IMP	molecular function
GO:0004016	adenylate cyclase activity	IMP	molecular function
GO:0004016	adenylate cyclase activity	IMP	molecular function
GO:1900016	negative regulation of cytokine production involved in inflammatory response	ISS	biological process
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:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0016021	integral component of 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:0016020	membrane	IEA	cellular component
GO:0071361	cellular response to ethanol	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0006171	cAMP biosynthetic process	IDA	biological process
GO:0004016	adenylate cyclase activity	IDA	molecular function
GO:0005886	plasma membrane	ISS	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
hsa04927	Cortisol synthesis and secretion
hsa04213	Longevity regulating pathway - multiple species
hsa04923	Regulation of lipolysis in adipocytes
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R