Human Gene ADCY5 (ENST00000491190.5) Description and Page Index
  Description: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. (from UniProt B3KWA8)
RefSeq Summary (NM_001199642): 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: ENST00000491190.5
Gencode Gene: ENSG00000173175.14
Transcript (Including UTRs)
   Position: hg38 chr3:123,283,944-123,419,209 Size: 135,266 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr3:123,284,608-123,367,937 Size: 83,330 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:123,283,944-123,419,209)mRNA (may differ from genome)Protein (919 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B3KWA8_HUMAN
DESCRIPTION: SubName: Full=Adenylate cyclase type 5; SubName: Full=cDNA FLJ42701 fis, clone BRAMY3004919, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1);
SIMILARITY: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.

-  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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.70538-0.351 Picture PostScript Text
3' UTR -281.70664-0.424 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 B3KWA8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004016 adenylate cyclase activity
GO:0016829 lyase activity
GO:0016849 phosphorus-oxygen lyase activity

Biological Process:
GO:0006171 cAMP biosynthetic process
GO:0009190 cyclic nucleotide biosynthetic process
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
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.
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

-  Other Names for This Gene
  Alternate Gene Symbols: AK124691, B3KWA8, B3KWA8_HUMAN, uc003egg.1, uc003egg.2, uc003egg.3
UCSC ID: uc003egg.3
RefSeq Accession: NM_001199642
Protein: B3KWA8 CCDS: CCDS56274.1

-  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.