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Gene id 107
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol ADCY1   Gene   UCSC   Ensembl
Aliases AC1, DFNB44
Gene name adenylate cyclase 1
Alternate names adenylate cyclase type 1, 3',5'-cyclic AMP synthetase, ATP pyrophosphate-lyase 1, Ca(2+)/calmodulin-activated adenylyl cyclase, adenyl cyclase, adenylate cyclase 1 (brain), adenylate cyclase type I, adenylyl cyclase 1,
Gene location 7p12.3 (45574139: 45723115)     Exons: 22     NC_000016.10
Gene summary(Entrez) This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple tra
OMIM 103072

SNPs
rs17840762

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

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

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

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs12088543

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

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

rs11531577

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

NC_000007.14   g.100180604G>T
NC_000007.13   g.99778227G>T
NG_034114.1   g.7881G>T
NM_012447.4   c.48G>T
NM_012447.3   c.48G>T
NM_012447.2   c.48G>T
NM_001282718.2   c.48G>T
NM_001282718.1   c.48G>T
NM_001282717.1   c.48G>T
NM_001282716.1   c.48G>T
XM_017011683.2   c.48G>

rs10841496

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

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs7867029

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

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

rs3216733

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

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs3000811

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

NC_000001.11   g.227400755G>A
NC_000001.11   g.227400755G>C
NC_000001.10   g.227588456G>A
NC_000001.10   g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641

rs1129332

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

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

rs2032278

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

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

rs1727130

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

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

rs11857513

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

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

rs2976084

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

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa04020Calcium signaling pathway
hsa04072Phospholipase D signaling pathway
hsa04024cAMP signaling pathway
hsa04022cGMP-PKG signaling pathway
hsa04114Oocyte meiosis
hsa04540Gap junction
hsa04611Platelet activation
hsa04062Chemokine signaling pathway
hsa04911Insulin secretion
hsa04923Regulation of lipolysis in adipocytes
hsa04912GnRH signaling pathway
hsa04913Ovarian steroidogenesis
hsa04915Estrogen signaling pathway
hsa04914Progesterone-mediated oocyte maturation
hsa04921Oxytocin signaling pathway
hsa04926Relaxin signaling pathway
hsa04918Thyroid hormone synthesis
hsa04928Parathyroid hormone synthesis, secretion and action
hsa04916Melanogenesis
hsa04925Aldosterone synthesis and secretion
hsa04927Cortisol synthesis and secretion
hsa04261Adrenergic signaling in cardiomyocytes
hsa04270Vascular smooth muscle contraction
hsa04970Salivary secretion
hsa04971Gastric acid secretion
hsa04972Pancreatic secretion
hsa04976Bile secretion
hsa04724Glutamatergic synapse
hsa04727GABAergic synapse
hsa04725Cholinergic synapse
hsa04720Long-term potentiation
hsa04723Retrograde endocannabinoid signaling
hsa04750Inflammatory mediator regulation of TRP channels
hsa04211Longevity regulating pathway
hsa04213Longevity regulating pathway - multiple species
hsa04713Circadian entrainment
hsa04714Thermogenesis
hsa05200Pathways in cancer
hsa05032Morphine addiction
hsa05414Dilated cardiomyopathy
hsa04934Cushing syndrome
hsa05166Human T-cell leukemia virus 1 infection
hsa05163Human cytomegalovirus infection
hsa05146Amoebiasis
hsa05142Chagas disease
hsa01522Endocrine resistance
hsa01100Metabolic pathways
hsa05200Pathways in cancer
hsa04915Estrogen signaling pathway
hsa05166Human T-cell leukemia virus 1 infection
hsa04928Parathyroid hormone synthesis, secretion and action
hsa04714Thermogenesis
hsa04261Adrenergic signaling in cardiomyocytes
hsa04022cGMP-PKG signaling pathway
hsa04024cAMP signaling pathway
hsa05163Human cytomegalovirus infection
hsa04911Insulin secretion
hsa04750Inflammatory mediator regulation of TRP channels
hsa04921Oxytocin signaling pathway
hsa04020Calcium signaling pathway
hsa04725Cholinergic synapse
hsa04270Vascular smooth muscle contraction
hsa04015Rap1 signaling pathway
hsa04970Salivary secretion
hsa04925Aldosterone synthesis and secretion
hsa04713Circadian entrainment
hsa04935Growth hormone synthesis, secretion and action
hsa05032Morphine addiction
hsa04723Retrograde endocannabinoid signaling
hsa04211Longevity regulating pathway
hsa04371Apelin signaling pathway
hsa04072Phospholipase D signaling pathway
hsa04611Platelet activation
hsa04918Thyroid hormone synthesis
hsa04976Bile secretion
hsa04114Oocyte meiosis
hsa04916Melanogenesis
hsa04972Pancreatic secretion
hsa04926Relaxin signaling pathway
hsa04727GABAergic synapse
hsa04062Chemokine signaling pathway
hsa05146Amoebiasis
hsa04971Gastric acid secretion
hsa04934Cushing syndrome
hsa04923Regulation of lipolysis in adipocytes
hsa04213Longevity regulating pathway - multiple species
hsa00230Purine metabolism
hsa04540Gap junction
hsa04927Cortisol synthesis and secretion
hsa04720Long-term potentiation
hsa01522Endocrine resistance
hsa04912GnRH signaling pathway
hsa04914Progesterone-mediated oocyte maturation
hsa04724Glutamatergic synapse
hsa05142Chagas disease
hsa05414Dilated cardiomyopathy
hsa04913Ovarian steroidogenesis

Diseases

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Associated diseases References
Deafness KEGG: H00605
Autism GAD: 19058789
Associated with sperm motility defect MIK: 14976244
Necrozoospermia MIK: 6287950
Male factor infertility MIK: 16842770
Associated with sperm motility defect MIK: 14976244
Male infertility MIK: 14976244
Cryptorchidism MIK: 28606200
Involved in spermatozoal motility since two patients suffering necrospermia possessed spermatozoa deficient in both AC and PCM activities MIK: 6287950
Male infertility MIK: 16842770
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16842770 Male infer
tility

Male infertility
Show abstract
14976244 Associated
with sper
m motility
defect, M
ale infert
ility

Male infertility
Show abstract
6287950 Involved i
n spermato
zoal motil
ity since
two patien
ts sufferi
ng necrosp
ermia poss
essed sper
matozoa de
ficient in
both AC a
nd PCM act
ivities

Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract