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Aliases for ADCY1 Gene

Aliases for ADCY1 Gene

  • Adenylate Cyclase 1 (Brain) 2 3 5
  • Ca(2+)/Calmodulin-Activated Adenylyl Cyclase 3 4
  • ATP Pyrophosphate-Lyase 1 3 4
  • Adenylate Cyclase Type I 3 4
  • Adenylyl Cyclase 1 3 4
  • EC 4.6.1.1 4 63
  • 3,5-Cyclic AMP Synthetase 3
  • Adenyl Cyclase 3
  • DFNB44 3
  • AC1 3

External Ids for ADCY1 Gene

Previous GeneCards Identifiers for ADCY1 Gene

  • GC07P045296
  • GC07P045354
  • GC07P045387

Summaries for ADCY1 Gene

Entrez Gene Summary for ADCY1 Gene

  • 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]

GeneCards Summary for ADCY1 Gene

ADCY1 (Adenylate Cyclase 1 (Brain)) is a Protein Coding gene. Diseases associated with ADCY1 include deafness, autosomal recessive 44 and cholera. Among its related pathways are cGMP-PKG signaling pathway and Insulin secretion. GO annotations related to this gene include nucleotide binding and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY3.

UniProtKB/Swiss-Prot for ADCY1 Gene

  • 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).

Tocris Summary for ADCY1 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 ADCY1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY1 Gene

Genomics for ADCY1 Gene

Regulatory Elements for ADCY1 Gene

Enhancers for ADCY1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADCY1 on UCSC Golden Path with GeneCards custom track

Promoters for ADCY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADCY1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADCY1 Gene

Chromosome:
7
Start:
45,574,140 bp from pter
End:
45,723,116 bp from pter
Size:
148,977 bases
Orientation:
Plus strand

Genomic View for ADCY1 Gene

Genes around ADCY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY1 Gene

Proteins for ADCY1 Gene

  • Protein details for ADCY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08828-ADCY1_HUMAN
    Recommended name:
    Adenylate cyclase type 1
    Protein Accession:
    Q08828
    Secondary Accessions:
    • A4D2L8
    • Q75MI1

    Protein attributes for ADCY1 Gene

    Size:
    1119 amino acids
    Molecular mass:
    123440 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with CALM.

neXtProt entry for ADCY1 Gene

Proteomics data for ADCY1 Gene at MOPED

Post-translational modifications for ADCY1 Gene

Other Protein References for ADCY1 Gene

Antibody Products

Domains & Families for ADCY1 Gene

Gene Families for ADCY1 Gene

Protein Domains for ADCY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q08828

UniProtKB/Swiss-Prot:

ADCY1_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 ADCY1: view

Function for ADCY1 Gene

Molecular function for ADCY1 Gene

GENATLAS Biochemistry:
adenylyl cyclase,type I,calmodulin sensitive,fetal brain
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium/calmodulin. Activated by forskolin. Activated by the G protein alpha subunit GNAS. Inhibited by the G protein beta and gamma subunit complex. Inhibited by the ATP analogs adenosine, 2-deoxyadenosine and 2-deoxy-3-AMP.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for ADCY1 Gene

genes like me logo Genes that share phenotypes with ADCY1: view

Human Phenotype Ontology for ADCY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADCY1 Gene

MGI Knock Outs for ADCY1:

Animal Model Products

miRNA for ADCY1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ADCY1 Gene

Localization for ADCY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY1 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasm. Membrane raft. Note=Expressed in the cytoplasm of supporting cells and hair cells of the cochlea vestibule, as well as to the cochlear hair cell nuclei and stereocilia. {ECO:0000250 UniProtKB:O88444}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADCY1 Gene COMPARTMENTS Subcellular localization image for ADCY1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
genes like me logo Genes that share ontologies with ADCY1: view

Pathways & Interactions for ADCY1 Gene

SuperPathways for ADCY1 Gene

Superpath Contained pathways
1 DAG and IP3 signaling
2 Interleukin-3, 5 and GM-CSF signaling
3 Circadian entrainment
4 G-Beta Gamma Signaling
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ADCY1: view

SIGNOR curated interactions for ADCY1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006833 water transport TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS --
GO:0007202 activation of phospholipase C activity TAS --
genes like me logo Genes that share ontologies with ADCY1: view

Drugs & Compounds for ADCY1 Gene

(25) Drugs for ADCY1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, product of 0
Adenosine triphosphate Approved Nutra Target 0
Pyruvic acid Approved Nutra 0
Forskolin Experimental Pharma Adenylyl cyclase activator 0
cyclic amp Experimental Pharma 0

(22) Additional Compounds for ADCY1 Gene - From: Novoseek, Tocris, and HMDB

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
NKH 477
138605-00-2
PACAP 1-27
127317-03-7
PACAP 1-38
137061-48-4
SQ 22536
17318-31-9

(5) Tocris Compounds for ADCY1 Gene

Compound Action Cas Number
Forskolin Adenylyl cyclase activator 66575-29-9
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
PACAP 1-27 Potent stimulator of adenylyl cyclase 127317-03-7
PACAP 1-38 Potent stimulator of adenylyl cyclase 137061-48-4
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9

(1) ApexBio Compounds for ADCY1 Gene

Compound Action Cas Number
Forskolin 66575-29-9
genes like me logo Genes that share compounds with ADCY1: view

Transcripts for ADCY1 Gene

Unigene Clusters for ADCY1 Gene

Adenylate cyclase 1 (brain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY1 Gene

No ASD Table

Relevant External Links for ADCY1 Gene

GeneLoc Exon Structure for
ADCY1
ECgene alternative splicing isoforms for
ADCY1

Expression for ADCY1 Gene

mRNA expression in normal human tissues for ADCY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADCY1 Gene

This gene is overexpressed in Brain - Cortex (x6.9), Brain - Frontal Cortex (BA9) (x6.8), Brain - Anterior cingulate cortex (BA24) (x6.0), Brain - Cerebellar Hemisphere (x5.5), and Brain - Cerebellum (x4.7).

Protein differential expression in normal tissues from HIPED for ADCY1 Gene

This gene is overexpressed in Serum (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADCY1 Gene



SOURCE GeneReport for Unigene cluster for ADCY1 Gene Hs.192215

mRNA Expression by UniProt/SwissProt for ADCY1 Gene

Q08828-ADCY1_HUMAN
Tissue specificity: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Brain, retina and adrenal medulla.
genes like me logo Genes that share expression patterns with ADCY1: view

Protein tissue co-expression partners for ADCY1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ADCY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCY1 36
  • 100 (a)
OneToOne
ADCY1 35
  • 99.58 (n)
  • 99.82 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adcy1 36
  • 93 (a)
OneToOne
Adcy1 16
Adcy1 35
  • 88 (n)
  • 92.62 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCY1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY1 36
  • 89 (a)
OneToOne
ADCY1 35
  • 85.84 (n)
  • 90.88 (a)
cow
(Bos Taurus)
Mammalia ADCY1 36
  • 91 (a)
OneToOne
ADCY1 35
  • 88.57 (n)
  • 92.89 (a)
rat
(Rattus norvegicus)
Mammalia Adcy1 35
  • 87.5 (n)
  • 92.6 (a)
chicken
(Gallus gallus)
Aves ADCY1 36
  • 78 (a)
OneToOne
ADCY1 35
  • 74.68 (n)
  • 82.82 (a)
lizard
(Anolis carolinensis)
Reptilia ADCY1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adcy1 35
  • 71.62 (n)
  • 80.59 (a)
zebrafish
(Danio rerio)
Actinopterygii adcy1b 36
  • 73 (a)
OneToMany
adcy1a 36
  • 68 (a)
OneToMany
ADCY1 (2 of 3) 36
  • 70 (a)
OneToMany
adcy1a 35
  • 70.87 (n)
  • 74.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta rut 36
  • 21 (a)
OneToOne
rut 35
  • 56.88 (n)
  • 50.46 (a)
rut 37
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000727 35
  • 56.68 (n)
  • 48.51 (a)
worm
(Caenorhabditis elegans)
Secernentea acy-4 37
  • 51 (a)
Species with no ortholog for ADCY1:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ADCY1 Gene

ENSEMBL:
Gene Tree for ADCY1 (if available)
TreeFam:
Gene Tree for ADCY1 (if available)

Paralogs for ADCY1 Gene

Paralogs for ADCY1 Gene

(9) SIMAP similar genes for ADCY1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADCY1: view

Variants for ADCY1 Gene

Sequence variations from dbSNP and Humsavar for ADCY1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs12721473 - 45,660,101(+) AGAAC(C/T)GGGTT reference, missense
rs45444695 - 45,708,350(+) CCTAG(A/G)CTAAG reference, missense
rs2293106 - 45,713,725(-) GGGCA(C/T)CTTCT reference, synonymous-codon, utr-variant-3-prime
rs867516 -- 45,579,970(-) GGGGG(C/G)GAGGG intron-variant
rs867582 -- 45,579,432(+) GGTCC(C/T)TCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY1 Gene

Variant ID Type Subtype PubMed ID
nsv888002 CNV Loss 21882294
esv24848 CNV Loss 19812545
nsv818498 CNV Loss 17921354
nsv523515 CNV Loss 19592680

Variation tolerance for ADCY1 Gene

Residual Variation Intolerance Score: 1.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCY1 Gene

HapMap Linkage Disequilibrium report
ADCY1
Human Gene Mutation Database (HGMD)
ADCY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY1 Gene

Disorders for ADCY1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADCY1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 44
  • deafness, autosomal recessive, 44
cholera
  • cholera - vibrio cholerae
osteoblastoma
bone benign neoplasm
connective tissue benign neoplasm
  • neoplasm of soft tissue
- elite association - COSMIC cancer census association via MalaCards
Search ADCY1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCY1_HUMAN
  • Deafness, autosomal recessive, 44 (DFNB44) [MIM:610154]: A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. {ECO:0000269 PubMed:24482543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADCY1

Genetic Association Database (GAD)
ADCY1
Human Genome Epidemiology (HuGE) Navigator
ADCY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY1
genes like me logo Genes that share disorders with ADCY1: view

No data available for Genatlas for ADCY1 Gene

Publications for ADCY1 Gene

  1. Cloning, chromosomal mapping, and expression of human fetal brain type I adenylyl cyclase. (PMID: 8314585) Villacres E.C. … Storm D.R. (Genomics 1993) 2 3 4 67
  2. STC1 interference on calcitonin family of receptors signaling during osteoblastogenesis via adenylate cyclase inhibition. (PMID: 25591908) Terra S.R. … Schein V. (Mol. Cell. Endocrinol. 2015) 3
  3. Overexpression of the type 1 adenylyl cyclase in the forebrain leads to deficits of behavioral inhibition. (PMID: 25568126) Chen X. … Storm D.R. (J. Neurosci. 2015) 3
  4. Membranous adenylyl cyclase 1 activation is regulated by oxidation of N- and C-terminal methionine residues in calmodulin. (PMID: 25462816) LA1bker C. … Seifert R. (Biochem. Pharmacol. 2015) 3
  5. HIV-1 subtypes B and C Tat differentially impact synaptic plasticity expression and implicates HIV-associated neurocognitive disorders. (PMID: 25613138) Samikkannu T. … Nair M.P. (Curr. HIV Res. 2014) 3

Products for ADCY1 Gene

Sources for ADCY1 Gene

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