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Aliases for ADCY5 Gene

Aliases for ADCY5 Gene

  • Adenylate Cyclase 5 2 3
  • ATP Pyrophosphate-Lyase 5 3 4
  • Adenylate Cyclase Type V 3 4
  • Adenylyl Cyclase 5 3 4
  • EC 4.6.1.1 4 63
  • AC5 3 4
  • FDFM 3

External Ids for ADCY5 Gene

Previous GeneCards Identifiers for ADCY5 Gene

  • GC03M119766
  • GC03M122949
  • GC03M124282
  • GC03M124323
  • GC03M124324
  • GC03M124486
  • GC03M120376

Summaries for ADCY5 Gene

Entrez Gene Summary for ADCY5 Gene

  • 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]

GeneCards Summary for ADCY5 Gene

ADCY5 (Adenylate Cyclase 5) is a Protein Coding gene. Diseases associated with ADCY5 include dyskinesia, familial, with facial myokymia and adcy5-related dyskinesia. Among its related pathways are Immune System and DAG and IP3 signaling. GO annotations related to this gene include protein heterodimerization activity and phosphorus-oxygen lyase activity. An important paralog of this gene is NPR2.

UniProtKB/Swiss-Prot for ADCY5 Gene

  • 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).

Tocris Summary for ADCY5 Gene

  • Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into 3',5'-adenosine monophosphate (cyclic AMP/cAMP) and pyrophosphate. There are ten different mammalian isoforms of adenylyl cylase; nine of which are membrane-bound.

Gene Wiki entry for ADCY5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY5 Gene

Genomics for ADCY5 Gene

Regulatory Elements for ADCY5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADCY5 Gene

Chromosome:
3
Start:
123,282,296 bp from pter
End:
123,449,758 bp from pter
Size:
167,463 bases
Orientation:
Minus strand

Genomic View for ADCY5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADCY5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY5 Gene

Proteins for ADCY5 Gene

  • Protein details for ADCY5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95622-ADCY5_HUMAN
    Recommended name:
    Adenylate cyclase type 5
    Protein Accession:
    O95622
    Secondary Accessions:
    • B7Z8A6
    • Q7RTV7
    • Q8NFM3

    Protein attributes for ADCY5 Gene

    Size:
    1261 amino acids
    Molecular mass:
    138908 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro).;
    Quaternary structure:
    • Interacts with GNAS, GNB1 and GNG2 (PubMed:26206488). Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1 (PubMed:15385642).

    Alternative splice isoforms for ADCY5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY5 Gene

Proteomics data for ADCY5 Gene at MOPED

Post-translational modifications for ADCY5 Gene

Other Protein References for ADCY5 Gene

Antibody Products

Domains & Families for ADCY5 Gene

Gene Families for ADCY5 Gene

Protein Domains for ADCY5 Gene

Graphical View of Domain Structure for InterPro Entry

O95622

UniProtKB/Swiss-Prot:

ADCY5_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Contains 2 guanylate cyclase domains.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY5: view

Function for ADCY5 Gene

Molecular function for ADCY5 Gene

GENATLAS Biochemistry:
adenylyl cyclase,type V,ubiquitous
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin (PubMed:24700542). Activated by GNAS. Activity is further increased by interaction with the G-protein beta and gamma subunit complex formed by GNB1 and GNG2 (PubMed:26206488). Is not activated by calmodulin. Inhibited by adenosine and ATP analogs. Inhibited by calcium ions, already at micromolar concentrations (By similarity). Phosphorylation by RAF1 results in its activation (PubMed:15385642).
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for ADCY5 Gene

Gene Ontology (GO) - Molecular Function for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004016 adenylate cyclase activity IMP 24740569
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
GO:0008179 adenylate cyclase binding ISS --
genes like me logo Genes that share ontologies with ADCY5: view
genes like me logo Genes that share phenotypes with ADCY5: view

Animal Models for ADCY5 Gene

MGI Knock Outs for ADCY5:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADCY5

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ADCY5 Gene

Localization for ADCY5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY5 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADCY5 Gene COMPARTMENTS Subcellular localization image for ADCY5 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005829 cytosol IMP 24740569
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 15385642
genes like me logo Genes that share ontologies with ADCY5: view

Pathways & Interactions for ADCY5 Gene

SuperPathways for ADCY5 Gene

Superpath Contained pathways
1 DAG and IP3 signaling
2 Interleukin receptor SHC signaling
3 Circadian entrainment
4 Aquaporin-mediated transport
5 Activation of cAMP-Dependent PKA
genes like me logo Genes that share pathways with ADCY5: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • G-Protein-Coupled Receptor Signaling PathwayFinder in human,mouse,rat

SIGNOR curated interactions for ADCY5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001973 adenosine receptor signaling pathway IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006171 cAMP biosynthetic process IMP 24740569
GO:0006833 water transport TAS --
genes like me logo Genes that share ontologies with ADCY5: view

Drugs & Compounds for ADCY5 Gene

(15) Drugs for ADCY5 Gene - From: NovoSeek, HMDB, DrugBank, IUPHAR, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Pyruvic acid Approved Nutra 0
Dopamine Approved Pharma Full agonist, Agonist 2814
Nitric Oxide Approved Pharma 540
2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE Experimental Pharma Target 0

(7) Additional Compounds for ADCY5 Gene - From: Tocris, HMDB, and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
MDL 12330A hydrochloride
40297-09-4
NKH 477
138605-00-2
PACAP 1-27
127317-03-7
PACAP 1-38
137061-48-4
genes like me logo Genes that share compounds with ADCY5: view

Transcripts for ADCY5 Gene

Unigene Clusters for ADCY5 Gene

Adenylate cyclase 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADCY5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY5 Gene

No ASD Table

Relevant External Links for ADCY5 Gene

GeneLoc Exon Structure for
ADCY5
ECgene alternative splicing isoforms for
ADCY5

Expression for ADCY5 Gene

mRNA expression in normal human tissues for ADCY5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADCY5 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for ADCY5 Gene

This gene is overexpressed in Breast (55.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADCY5 Gene



SOURCE GeneReport for Unigene cluster for ADCY5 Gene Hs.593292

mRNA Expression by UniProt/SwissProt for ADCY5 Gene

O95622-ADCY5_HUMAN
Tissue specificity: Detected in pancreas islets (at protein level). Detected in pancreas islets.
genes like me logo Genes that share expression patterns with ADCY5: view

Protein tissue co-expression partners for ADCY5 Gene

Primer Products

In Situ Assay Products

Orthologs for ADCY5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADCY5 35
  • 92.53 (n)
  • 97.06 (a)
ADCY5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY5 35
  • 91.22 (n)
  • 93.94 (a)
ADCY5 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adcy5 35
  • 89.48 (n)
  • 94.29 (a)
Adcy5 16
Adcy5 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADCY5 35
  • 99.29 (n)
  • 99.26 (a)
ADCY5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adcy5 35
  • 89.51 (n)
  • 94.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCY5 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves ADCY5 35
  • 75.77 (n)
  • 82.01 (a)
ADCY5 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY5 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii adcy5 35
  • 74.08 (n)
  • 79.29 (a)
adcy5 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002998 35
  • 59.17 (n)
  • 52.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43373 35
  • 59.8 (n)
  • 52.68 (a)
CG43373 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acy-4 35
  • 49.31 (n)
  • 42.07 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for ADCY5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADCY5 Gene

ENSEMBL:
Gene Tree for ADCY5 (if available)
TreeFam:
Gene Tree for ADCY5 (if available)

Paralogs for ADCY5 Gene

(11) SIMAP similar genes for ADCY5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADCY5: view

Variants for ADCY5 Gene

Sequence variations from dbSNP and Humsavar for ADCY5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs34495292 -- 123,352,297(+) TTCCC(-/C)ATGGG intron-variant
rs34485840 -- 123,311,065(+) CAAGG(-/G)AAGTC intron-variant
rs34452014 -- 123,332,123(+) GGAAT(A/G)GCACA intron-variant
rs34440281 -- 123,356,766(+) GTCCA(-/G)CTACT intron-variant, upstream-variant-2KB
rs34374347 -- 123,289,466(+) GCCCT(C/G)CATCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY5 Gene

Variant ID Type Subtype PubMed ID
nsv3976 CNV Insertion 18451855
nsv877395 CNV Gain 21882294
esv272701 CNV Insertion 20981092
nsv829707 CNV Loss 17160897
nsv822229 CNV Gain 20364138
esv2627675 CNV Insertion 19546169
nsv877396 CNV Gain 21882294
esv21931 CNV Loss 19812545

Variation tolerance for ADCY5 Gene

Residual Variation Intolerance Score: 1.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCY5 Gene

HapMap Linkage Disequilibrium report
ADCY5
Human Gene Mutation Database (HGMD)
ADCY5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY5 Gene

Disorders for ADCY5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ADCY5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskinesia, familial, with facial myokymia
  • fdfm
adcy5-related dyskinesia
  • dyskinesia, familial, with facial myokymia
chorea, hereditary benign
  • benign hereditary chorea
choreatic disease
  • chorea
- elite association
Search ADCY5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCY5_HUMAN
  • 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. {ECO:0000269 PubMed:22782511, ECO:0000269 PubMed:24700542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADCY5

Genetic Association Database (GAD)
ADCY5
Human Genome Epidemiology (HuGE) Navigator
ADCY5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY5
genes like me logo Genes that share disorders with ADCY5: view

No data available for Genatlas for ADCY5 Gene

Publications for ADCY5 Gene

  1. Aberrant REST-mediated transcriptional regulation in major depressive disorder. (PMID: 19846118) Otsuki K. … Watanabe Y. (J Psychiatr Res 2010) 23 67
  2. Regulation of type V adenylate cyclase by Ric8a, a guanine nucleotide exchange factor. (PMID: 17593019) Wang S.C. … Chern Y. (Biochem. J. 2007) 23 67
  3. Molecular characterization of dopamine D2 receptor isoforms tagged with green fluorescent protein. (PMID: 16943566) Sedaghat K. … Tiberi M. (Mol. Biotechnol. 2006) 23 67
  4. Regulatory properties of adenylate cyclases type 5 and 6: A progress report. (PMID: 16527269) Beazely M.A. … Watts V.J. (Eur. J. Pharmacol. 2006) 23 67
  5. Strain-induced fetal type II epithelial cell differentiation is mediated via cAMP-PKA-dependent signaling pathway. (PMID: 16751225) Wang Y. … Sanchez-Esteban J. (Am. J. Physiol. Lung Cell Mol. Physiol. 2006) 23 67

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