ADCY1 (adenylate cyclase 1)

Gene

• Entrez ID: 107
• Gene name: Adenylate cyclase 1
• Gene symbol: ADCY1
• Synonyms: AC1, DFNB44
• Chromosome: 7
• Chromosome location: 7p12.3
• Summary: 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 transcript variants. [provided by RefSeq, Aug 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777497	C>T	Pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042602	hsa-miR-423-3p	CLASH	23622248
MIRT043290	hsa-miR-331-3p	CLASH	23622248
MIRT044544	hsa-miR-320a	CLASH	23622248
MIRT052078	hsa-let-7b-5p	CLASH	23622248
MIRT733391	hsa-miR-212-3p	Luciferase reporter assay	25766675

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	TAS
GO:0004016	Function	Adenylate cyclase activity	IBA	21873635
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IDA	11549699
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA	21873635
GO:0006171	Process	CAMP biosynthetic process	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS
GO:0007190	Process	Activation of adenylate cyclase activity	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS
GO:0007409	Process	Axonogenesis	IEA
GO:0007420	Process	Brain development	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008294	Function	Calcium- and calmodulin-responsive adenylate cyclase activity	ISS
GO:0008294	Function	Calcium- and calmodulin-responsive adenylate cyclase activity	NAS	8314585
GO:0010226	Process	Response to lithium ion	IEA
GO:0019933	Process	CAMP-mediated signaling	ISS
GO:0032793	Process	Positive regulation of CREB transcription factor activity	ISS
GO:0034199	Process	Activation of protein kinase A activity	TAS
GO:0042493	Process	Response to drug	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099061	Component	Integral component of postsynaptic density membrane	IEA
GO:0150076	Process	Neuroinflammatory response	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1904322	Process	Cellular response to forskolin	ISS
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 103072
• HGNC: 232
• e!Ensembl: ENSG00000164742

Protein

• UniProt ID: Q08828
• Protein name: Adenylate cyclase type 1 (EC 4.6.1.1) (ATP pyrophosphate-lyase 1) (Adenylate cyclase type I) (Adenylyl cyclase 1) (Ca(2+)/calmodulin-activated adenylyl cyclase)
• Protein function: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16214	AC_N	34 → 292	Adenylyl cyclase N-terminal extracellular and transmembrane region	Family
  PF00211	Guanylate_cyc	294 → 477	Adenylate and Guanylate cyclase catalytic domain	Domain
  PF00211	Guanylate_cyc	859 → 1056	Adenylate and Guanylate cyclase catalytic domain	Domain

• Sequence:

  MAGAPRGGGGGGGGAGEPGGAERAAGTSRRRGLRACDEEFACPELEALFRGYTLRLEQAA
  TLKALAVLSLLAGALALAELLGAPGPAPGLAKGSHPVHCVLFLALLVVTNVRSLQVPQLQ
  QVGQLALLFSLTFALLCCPFALGGPARGSAGAAGGPATAEQGVWQLLLVTFVSYALLPVR
  SLLAIGFGLVVAASHLLVTATLVPAKRPRLWRTLGANALLFVGVNMYGVFVRILTERSQR
  KAFLQARSCIEDRLRLEDENEKQERLLMSLLPRNVAMEMKEDFLKPPERIFHKIYIQRHD
  NVSILFADIVGFTGLASQCTAQELVKLLNELFGKFDELATENHCRRIKILGDCYYCVSGL
  TQPKTDHAHCCVEMGLDMIDTITSVAEATEVDLNMRVGLHTGRVLCGVLGLRKWQYDVWS
  NDVTLANVMEAAGLPGKVHITKTTLACLNGDYEVEPGYGHERNSFLKTHNIETFFIVPSH
  RRKIFPGLILSDIKPAKRMKFKTVCYLLVQLMHCRKMFKAEIPFSNVMTCEDDDKRRALR
  TASEKLRNRSSFSTNVVYTTPGTRVNRYISRLLEARQTELEMADLNFFTLKYKHVEREQK
  YHQLQDEYFTSAVVLTLILAALFGLVYLLIFPQSVVVLLLLVFCICFLVACVLYLHITRV
  QCFPGCLTIQIRTVLCIFIVVLIYSVAQGCVVGCLPWAWSSKPNSSLVVLSSGGQRTALP
  TLPCESTHHALLCCLVGTLPLAIFFRVSSLPKMILLSGLTTSYILVLELSGYTRTGGGAV
  SGRSYEPIVAILLFSCALALHARQVDIRLRLDYLWAAQAEEEREDMEKVKLDNRRILFNL
  LPAHVAQHFLMSNPRNMDLYYQSYSQVGVMFASIPNFNDFYIELDGNNMGVECLRLLNEI
  IADFDELMEKDFYKDIEKIKTIGSTYMAAVGLAPTSGTKAKKSISSHLSTLADFAIEMFD
  VLDEINYQSYNDFVLRVGINVGPVVAGVIGARRPQYDIWGNTVNVASRMDSTGVQGRIQV
  TEEVHRLLRRCPYHFVCRGKVSVKGKGEMLTYFLEGRTDGNGSQIRSLGLDRKMCPFGRA
  GLQGRRPPVCPMPGVSVRAGLPPHSPGQYLPSAAAGKEA

• Sequence length: 1119