ADCY5 (adenylate cyclase 5)

Gene

• Entrez ID: 111
• Gene name: Adenylate cyclase 5
• Gene symbol: ADCY5
• Synonyms: AC5, FDFM
• Chromosome: 3
• Chromosome location: 3q21.1
• Summary: This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61734561	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs548282891	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs746547282	C>T	Likely-pathogenic	Splice donor variant
rs757156390	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs765349480	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796065306	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045002	C>A,T	Pathogenic	Splice donor variant
rs864309483	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs864309484	A>T	Pathogenic	Missense variant, coding sequence variant
rs864309515	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs910314734	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520218	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308027	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1215504032	AGCCGCCGCCGCCG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1553718964	G>T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1553726054	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553732126	->G	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553751151	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1553751262	GCCGAGCCGCCGCCGCCGCC>-,GCC	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1576526285	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606182	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606282	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1576704514	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT720866	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT720867	hsa-miR-718	HITS-CLIP	19536157
MIRT720868	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT720869	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT720870	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT720871	hsa-miR-4287	HITS-CLIP	19536157
MIRT720872	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT720873	hsa-miR-3922-5p	HITS-CLIP	19536157
MIRT720874	hsa-miR-4717-5p	HITS-CLIP	19536157
MIRT720875	hsa-miR-4753-5p	HITS-CLIP	19536157
MIRT790059	hsa-miR-1249-5p	HITS-CLIP	28735896
MIRT790185	hsa-miR-214-5p	HITS-CLIP	28735896
MIRT790315	hsa-miR-3616-3p	HITS-CLIP	28735896
MIRT790365	hsa-miR-3911	HITS-CLIP	28735896
MIRT790800	hsa-miR-593-5p	HITS-CLIP	28735896
MIRT790860	hsa-miR-6514-3p	HITS-CLIP	28735896
MIRT790864	hsa-miR-6515-5p	HITS-CLIP	28735896
MIRT790970	hsa-miR-6797-5p	HITS-CLIP	28735896
MIRT790983	hsa-miR-6811-3p	HITS-CLIP	28735896
MIRT791080	hsa-miR-6890-3p	HITS-CLIP	28735896
MIRT791128	hsa-miR-7847-3p	HITS-CLIP	28735896

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0003091	Process	Renal water homeostasis	TAS
GO:0004016	Function	Adenylate cyclase activity	IBA	21873635
GO:0004016	Function	Adenylate cyclase activity	IDA	15385642, 24700542
GO:0004016	Function	Adenylate cyclase activity	IMP	24740569
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005929	Component	Cilium	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA	21873635
GO:0006171	Process	CAMP biosynthetic process	IDA	15385642, 24700542
GO:0006171	Process	CAMP biosynthetic process	IMP	24740569
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	IMP	24700542
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS
GO:0007190	Process	Activation of adenylate cyclase activity	TAS
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IMP	24740569
GO:0007626	Process	Locomotory behavior	IEA
GO:0008179	Function	Adenylate cyclase binding	ISS
GO:0016021	Component	Integral component of membrane	IDA	15385642
GO:0034199	Process	Activation of protein kinase A activity	TAS
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	24740569
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:0097110	Function	Scaffold protein binding	IEA
GO:1904322	Process	Cellular response to forskolin	IDA	15385642, 24700542

Other IDs

• MIM: 600293
• HGNC: 236
• e!Ensembl: ENSG00000173175

Protein

• UniProt ID: O95622
• Protein name: Adenylate cyclase type 5 (EC 4.6.1.1) (ATP pyrophosphate-lyase 5) (Adenylate cyclase type V) (Adenylyl cyclase 5) (AC5)
• Protein function: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16214	AC_N	1 → 458	Adenylyl cyclase N-terminal extracellular and transmembrane region	Family
  PF00211	Guanylate_cyc	460 → 642	Adenylate and Guanylate cyclase catalytic domain	Domain
  PF06327	DUF1053	668 → 761	Domain of Unknown Function (DUF1053)	Family
  PF00211	Guanylate_cyc	1062 → 1256	Adenylate and Guanylate cyclase catalytic domain	Domain

• Sequence:

  MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGA
  VTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRR
  GAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEG
  GEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQS
  SLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGL
  ACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSAL
  HLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLH
  SQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTS
  LASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEM
  GMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGK
  AGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMN
  RQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFL
  GRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQI
  TIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVF
  TITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSP
  WPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADL
  LVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKL
  QATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANF
  SEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTY
  DKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWG
  NTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPL
  S

• Sequence length: 1261