ADCY1 (adenylate cyclase 1)

2017-10-01  

Identity

HGNC
LOCATION
7p12.3
LOCUSID
ALIAS
AC1,DFNB44
FUSION GENES

Other Information

Locus ID:

NCBI: 107
MIM: 103072
HGNC: 232
Ensembl: ENSG00000164742

Variants:

dbSNP: 107
ClinVar: 107
TCGA: ENSG00000164742
COSMIC: ADCY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164742ENST00000297323Q08828
ENSG00000164742ENST00000432715C9J1J0
ENSG00000164742ENST00000621543C9J1J0

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Calcium signaling pathwayKEGGko04020
Gap junctionKEGGko04540
Long-term potentiationKEGGko04720
GnRH signaling pathwayKEGGko04912
Progesterone-mediated oocyte maturationKEGGko04914
MelanogenesisKEGGko04916
Purine metabolismKEGGhsa00230
Calcium signaling pathwayKEGGhsa04020
Gap junctionKEGGhsa04540
Long-term potentiationKEGGhsa04720
GnRH signaling pathwayKEGGhsa04912
MelanogenesisKEGGhsa04916
Pathways in cancerKEGGhsa05200
Vascular smooth muscle contractionKEGGhsa04270
Chemokine signaling pathwayKEGGko04062
Vascular smooth muscle contractionKEGGko04270
Chemokine signaling pathwayKEGGhsa04062
Progesterone-mediated oocyte maturationKEGGhsa04914
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Inflammatory mediator regulation of TRP channelsKEGGhsa04750
Inflammatory mediator regulation of TRP channelsKEGGko04750
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
cAMP signalingKEGGhsa_M00695
cAMP signalingKEGGM00695
Regulation of lipolysis in adipocytesKEGGhsa04923
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of NMDA receptor upon glutamate binding and postsynaptic eventsREACTOMER-HSA-442755
Post NMDA receptor activation eventsREACTOMER-HSA-438064
CREB phosphorylation through the activation of Adenylate CyclaseREACTOMER-HSA-442720
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of adenylate cyclase pathwayREACTOMER-HSA-997269
Adenylate cyclase inhibitory pathwayREACTOMER-HSA-170670
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
DAG and IP3 signalingREACTOMER-HSA-1489509
CaM pathwayREACTOMER-HSA-111997
Calmodulin induced eventsREACTOMER-HSA-111933
PKA-mediated phosphorylation of CREBREACTOMER-HSA-111931
PKA activationREACTOMER-HSA-163615
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR interacts with phospholipase C-gammaREACTOMER-HSA-212718
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
PLC-gamma1 signallingREACTOMER-HSA-167021
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555
G alpha (i) signalling eventsREACTOMER-HSA-418594
G alpha (z) signalling eventsREACTOMER-HSA-418597
Opioid SignallingREACTOMER-HSA-111885
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Ca-dependent eventsREACTOMER-HSA-111996
Adenylate cyclase activating pathwayREACTOMER-HSA-170660
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Aquaporin-mediated transportREACTOMER-HSA-445717
Vasopressin regulates renal water homeostasis via AquaporinsREACTOMER-HSA-432040
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Glucagon signaling in metabolic regulationREACTOMER-HSA-163359
PKA activation in glucagon signallingREACTOMER-HSA-164378
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Longevity regulating pathwayKEGGhsa04211
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213
Endocrine resistanceKEGGko01522
Endocrine resistanceKEGGhsa01522
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA172GNAI1GenePathwayassociated19741567
PA173GNAI3GenePathwayassociated19741567
PA175GNASGenePathwayassociated19741567
PA24347GNAI2GenePathwayassociated19741567
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociatedPD29121268
PA450243lithiumChemicalClinicalAnnotationassociatedPD29121268

References

Pubmed IDYearTitleCitations
151335162004Overexpression of type-1 adenylyl cyclase in mouse forebrain enhances recognition memory and LTP.88
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
205547632010CFTR-adenylyl cyclase I association responsible for UTP activation of CFTR in well-differentiated primary human bronchial cell cultures.30
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
190292952009Distinct mechanisms of regulation by Ca2+/calmodulin of type 1 and 8 adenylyl cyclases support their different physiological roles.21
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
244825432014Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.16
127431142003Tissue transglutaminase directly regulates adenylyl cyclase resulting in enhanced cAMP-response element-binding protein (CREB) activation.13
175865012007Calcium-mediated, purinergic stimulation and polarized localization of calcium-sensitive adenylyl cyclase isoforms in human airway epithelia.9
197266412009Overexpression of type I adenylyl cyclase in the forebrain impairs spatial memory in aged but not young mice.9

Citation

Dessen P

ADCY1 (adenylate cyclase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57160/adcy1-(adenylate-cyclase-1)