Human Gene ADCY5 (ENST00000462833.5) Description and Page Index
  Description: Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. (from RefSeq NM_183357)
RefSeq Summary (NM_183357): 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].
Gencode Transcript: ENST00000462833.5
Gencode Gene: ENSG00000173175.14
Transcript (Including UTRs)
   Position: hg38 chr3:123,282,296-123,449,758 Size: 167,463 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr3:123,284,608-123,448,545 Size: 163,938 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:123,282,296-123,449,758)mRNA (may differ from genome)Protein (1261 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ADCY5_HUMAN
DESCRIPTION: RecName: Full=Adenylate cyclase type 5; EC=4.6.1.1; AltName: Full=ATP pyrophosphate-lyase 5; AltName: Full=Adenylate cyclase type V; AltName: Full=Adenylyl cyclase 5;
FUNCTION: This is a membrane-bound, calcium-inhibitable adenylyl cyclase.
CATALYTIC ACTIVITY: ATP = 3',5'-cyclic AMP + diphosphate.
COFACTOR: Binds 2 magnesium ions per subunit (By similarity).
ENZYME REGULATION: Inhibition by calcium in the submicromolar concentration range (By similarity). Phosphorylation by RAF1 results in its activation.
SUBUNIT: Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity).
PTM: Phosphorylated by RAF1.
DISEASE: Defects in ADCY5 are the cause of dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]. A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages.
SIMILARITY: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
SIMILARITY: Contains 2 guanylate cyclase domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: ADCY5
Diseases sorted by gene-association score: dyskinesia, familial, with facial myokymia* (1580), adcy5-related dyskinesia* (500), chorea, hereditary benign* (247), early-onset generalized dystonia (9), alternating hemiplegia of childhood (9), dyskinetic cerebral palsy (7), choreatic disease (7), hemiplegia (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D002118 Calcium
  • D005576 Forskolin
  • D008274 Magnesium
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • D015647 2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine
  • C061282 2-(4-(2-carboxyethyl)phenethylamino)-5'-N-ethylcarboxamidoadenosine
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • C547126 AZM551248
  • D000109 Acetylcholine
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.57 RPKM in Esophagus - Gastroesophageal Junction
Total median expression: 677.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -639.901213-0.528 Picture PostScript Text
3' UTR -854.202312-0.369 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001054 - A/G_cyclase
IPR018297 - A/G_cyclase_CS
IPR009398 - Adenylate_cyclase-like

Pfam Domains:
PF06327 - Domain of Unknown Function (DUF1053)
PF00211 - Adenylate and Guanylate cyclase catalytic domain

ModBase Predicted Comparative 3D Structure on O95622
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004016 adenylate cyclase activity
GO:0004383 guanylate cyclase activity
GO:0005524 ATP binding
GO:0008179 adenylate cyclase binding
GO:0016829 lyase activity
GO:0016849 phosphorus-oxygen lyase activity
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0097110 scaffold protein binding

Biological Process:
GO:0001973 adenosine receptor signaling pathway
GO:0003091 renal water homeostasis
GO:0006171 cAMP biosynthetic process
GO:0006182 cGMP biosynthetic process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0007195 adenylate cyclase-inhibiting dopamine receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007626 locomotory behavior
GO:0009190 cyclic nucleotide biosynthetic process
GO:0035556 intracellular signal transduction
GO:0050885 neuromuscular process controlling balance
GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0071377 cellular response to glucagon stimulus
GO:1904322 cellular response to forskolin

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0008074 guanylate cyclase complex, soluble
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042995 cell projection
GO:0045111 intermediate filament cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK093840 - Homo sapiens cDNA FLJ36521 fis, clone TRACH2002138, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
AX748331 - Sequence 1856 from Patent EP1308459.
AK124691 - Homo sapiens cDNA FLJ42701 fis, clone BRAMY3004919, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
AK294565 - Homo sapiens cDNA FLJ55968 complete cds, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
AF497517 - Homo sapiens adenylate cyclase type V (ADCY5) mRNA, partial cds.
GQ891503 - Homo sapiens clone HEL-S-224 epididymis secretory sperm binding protein mRNA, complete cds.
AK303070 - Homo sapiens cDNA FLJ59802 complete cds, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
BC156217 - Synthetic construct Homo sapiens clone IMAGE:100061601, MGC:190048 adenylate cyclase 5 (ADCY5) mRNA, encodes complete protein.
AB527359 - Synthetic construct DNA, clone: pF1KE0095, Homo sapiens ADCY5 gene for adenylate cyclase 5, without stop codon, in Flexi system.
AK098381 - Homo sapiens cDNA FLJ25515 fis, clone CBR06479.
JD439673 - Sequence 420697 from Patent EP1572962.
JD122803 - Sequence 103827 from Patent EP1572962.
JD252830 - Sequence 233854 from Patent EP1572962.
JD361460 - Sequence 342484 from Patent EP1572962.
JD347624 - Sequence 328648 from Patent EP1572962.
JD073695 - Sequence 54719 from Patent EP1572962.
JD442883 - Sequence 423907 from Patent EP1572962.
JD229560 - Sequence 210584 from Patent EP1572962.
JD363481 - Sequence 344505 from Patent EP1572962.
JD333496 - Sequence 314520 from Patent EP1572962.
JD476482 - Sequence 457506 from Patent EP1572962.
JD416789 - Sequence 397813 from Patent EP1572962.
JD554092 - Sequence 535116 from Patent EP1572962.
JD106347 - Sequence 87371 from Patent EP1572962.
JD122534 - Sequence 103558 from Patent EP1572962.
JD315885 - Sequence 296909 from Patent EP1572962.
JD377828 - Sequence 358852 from Patent EP1572962.
JD052648 - Sequence 33672 from Patent EP1572962.
JD295613 - Sequence 276637 from Patent EP1572962.
BX647739 - Homo sapiens mRNA; cDNA DKFZp686C01283 (from clone DKFZp686C01283).
JD450777 - Sequence 431801 from Patent EP1572962.
JD257817 - Sequence 238841 from Patent EP1572962.
JD162692 - Sequence 143716 from Patent EP1572962.
JD426371 - Sequence 407395 from Patent EP1572962.
AK302711 - Homo sapiens cDNA FLJ52910 complete cds, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
AK316488 - Homo sapiens cDNA, FLJ79387 complete cds, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1).
DQ581712 - Homo sapiens piRNA piR-49824, complete sequence.
U65473 - Homo sapiens adenylyl cyclase type V mRNA, partial cds.
DQ582372 - Homo sapiens piRNA piR-32484, complete sequence.
JD532047 - Sequence 513071 from Patent EP1572962.
JD407757 - Sequence 388781 from Patent EP1572962.
JD462857 - Sequence 443881 from Patent EP1572962.
JD520617 - Sequence 501641 from Patent EP1572962.
JD101322 - Sequence 82346 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa04062 - Chemokine signaling pathway
hsa04114 - Oocyte meiosis
hsa04270 - Vascular smooth muscle contraction
hsa04540 - Gap junction
hsa04912 - GnRH signaling pathway
hsa04914 - Progesterone-mediated oocyte maturation
hsa04916 - Melanogenesis
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein O95622 (Reactome details) participates in the following event(s):

R-HSA-400097 G-beta:G-gamma inhibits Adenylate cyclase
R-HSA-381704 G(s):GTP activates Adenylyl cyclase
R-HSA-163617 G alpha (s) activates adenylate cyclase
R-HSA-170672 Galpha-olf:GTP binds to adenylate cyclase and activates it
R-HSA-392064 G alpha (z) inhibits adenylate cyclase
R-HSA-392206 G alpha (i) inhibits adenylate cyclase
R-HSA-170674 Dissociation of the Gi alpha:G olf complex
R-HSA-170677 The G alpha-olf:GDP:Adenylate cyclase complex dissociates
R-HSA-170685 Adenylaye cyclase increases the GTPase activity of G alpha-olf
R-HSA-170686 Adenylate cyclase increases the GTPase activity of Gi alpha
R-HSA-170671 G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
R-HSA-111930 Adenylate cyclase produces cAMP
R-HSA-392129 Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate
R-HSA-381607 Activated Adenylyl cyclase synthesizes cyclic AMP
R-HSA-5610727 GPR161 promotes cAMP production in a G alpha(s)-dependent manner
R-HSA-164377 Activated Adenylate cyclase catalyses cAMP synthesis
R-HSA-170676 Adenylate cyclase converts ATP into cyclic AMP
R-HSA-170666 Adenylate cyclase increases the GTPase activity of G alpha-olf
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-418555 G alpha (s) signalling events
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-170660 Adenylate cyclase activating pathway
R-HSA-418597 G alpha (z) signalling events
R-HSA-170670 Adenylate cyclase inhibitory pathway
R-HSA-418594 G alpha (i) signalling events
R-HSA-422356 Regulation of insulin secretion
R-HSA-163685 Energy Metabolism
R-HSA-388396 GPCR downstream signalling
R-HSA-445717 Aquaporin-mediated transport
R-HSA-112040 G-protein mediated events
R-HSA-997269 Inhibition of adenylate cyclase pathway
R-HSA-163615 PKA activation
R-HSA-1430728 Metabolism
R-HSA-5610787 Hedgehog 'off' state
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-372790 Signaling by GPCR
R-HSA-382551 Transport of small molecules
R-HSA-111885 Opioid Signalling
R-HSA-991365 Activation of GABAB receptors
R-HSA-111931 PKA-mediated phosphorylation of CREB
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction
R-HSA-977444 GABA B receptor activation
R-HSA-111933 Calmodulin induced events
R-HSA-977443 GABA receptor activation
R-HSA-111997 CaM pathway
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-111996 Ca-dependent events
R-HSA-1489509 DAG and IP3 signaling
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112043 PLC beta mediated events
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ADCY5_HUMAN, B7Z8A6, NM_183357, O95622, Q7RTV7, Q8NFM3, uc003egh.1, uc003egh.2, uc003egh.3
UCSC ID: uc003egh.3
RefSeq Accession: NM_183357
Protein: O95622 (aka ADCY5_HUMAN or CYA5_HUMAN)
CCDS: CCDS3022.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ADCY5:
adcy5-dysk (ADCY5-Related Dyskinesia)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.