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Aliases for ADCY1 Gene

Aliases for ADCY1 Gene

  • Adenylate Cyclase 1 (Brain) 2 3
  • 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
  • Adenylate Cyclase Type 1 3
  • Adenyl Cyclase 3
  • DFNB44 3
  • AC1 3

External Ids for ADCY1 Gene

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 autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calmodulin binding and calcium- and calmodulin-responsive adenylate cyclase activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for ADCY1 Gene

  • This is a calmodulin-sensitive adenylyl cyclase. May be involved in regulatory processes in the central nervous system. It may play a role in memory acquisition 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 (cAMP) and pyrophosphate. There are ten different mammalian isoforms of AC; nine are membrane-bound, which are all found in, but not limited to, excitable tissues such as neurons and muscle, and one soluble form (sAC), which is expressed predominantly in the testis. The ten adenylyl cyclase isoforms can be divided into five distinct families based on their functional attributes; AC1, AC3 and AC8 are Ca2+-calmodulin-sensitive; AC2, AC4 and AC7 are Gbetagamma-stimulatory forms; AC5 and AC6 are distinguished by their insensitivity to inhibition by both Ca2+ and Galphai; AC9 is forskolin-insensitive and sAC is similar to cyanobacteria AC. Adenylyl cyclases are regulated by post-translational modifications, phosphorylation, G proteins, forskolin, pyrophosphate, calcium and calmodulin and the functions of this enzyme are diverse. Perturbations in adenylyl cyclase activity has been implicated in alcholol and opioid addiction and is associated with human diseases, including thyroid adenoma, male precocious puberty and chondrodysplasia.

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

Genomic Location for ADCY1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADCY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY1 Gene

Regulatory Elements 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; Note=Binds 2 magnesium ions per subunit.;
    Quaternary structure:
    No Data Available

neXtProt entry for ADCY1 Gene

Proteomics data for ADCY1 Gene at MOPED

Post-translational modifications for ADCY1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn704

Other Protein References for ADCY1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ADCY1 Gene

Gene Families for ADCY1 Gene

HGNC:
  • ADCY :Adenylate cyclases
IUPHAR :

Protein Domains for ADCY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q08828

UniProtKB/Swiss-Prot:

ADCY1_HUMAN
Domain:
  • Contains 2 guanylate cyclase domains.:
    • Q08828
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.:
    • Q08828
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. Inhibited by the G protein beta and gamma subunit complex
UniProtKB/Swiss-Prot Function: This is a calmodulin-sensitive adenylyl cyclase. May be involved in regulatory processes in the central nervous system. It may play a role in memory acquisition 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

Gene Ontology (GO) - Molecular Function for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004016 adenylate cyclase activity --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0008294 calcium- and calmodulin-responsive adenylate cyclase activity NAS 8314585
genes like me logo Genes that share ontologies with ADCY1: view
genes like me logo Genes that share phenotypes with ADCY1: view

Animal Models for ADCY1 Gene

MGI Knock Outs for ADCY1:

miRNA for ADCY1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for ADCY1 Gene

Localization for ADCY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY1 Gene

Membrane; Multi-pass membrane protein. Cytoplasm. 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
plasma membrane 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ADCY1: view

Pathways for ADCY1 Gene

SuperPathways for ADCY1 Gene

Superpath Contained pathways
1 Ca-dependent events
2 Signaling by FGFR
3 Circadian entrainment
4 G-Beta Gamma Signaling
5 Activation of cAMP-Dependent PKA
genes like me logo Genes that share pathways with ADCY1: view

Gene Ontology (GO) - Biological Process for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006171 cAMP biosynthetic process IEA --
GO:0006833 water transport TAS --
GO:0007165 signal transduction TAS --
genes like me logo Genes that share ontologies with ADCY1: view

Compounds for ADCY1 Gene

(5) Tocris Compounds for ADCY1 Gene

Compound Action Cas Number
KH 7 Selective soluble adenylyl cyclase inhibitor [330676-02-3]
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor [40297-09-4]
NKH 477 Water-soluble adenylyl cyclase activator [138605-00-2]
PACAP 1-27 Potent stimulator of adenylyl cyclase [127317-03-7]
SQ 22536 Adenylyl cyclase inhibitor [17318-31-9]

(12) HMDB Compounds for ADCY1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Calcium
  • Ca
7440-70-2
Cyclic AMP
  • Cyclic AMP
60-92-4
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8

(2) Drugbank Compounds for ADCY1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine monophosphate
  • 5'-Adenosine monophosphate
61-19-8 target product of
Adenosine triphosphate
  • 5'-ATP
56-65-5 target

(34) Novoseek inferred chemical compound relationships for ADCY1 Gene

Compound -log(P) Hits PubMed IDs
forskolin 71.5 16
2,5-dideoxyadenosine 69.6 3
cyclic amp 66.6 9
1,9-dideoxyforskolin 61.8 1
dbc-amp 59.4 3
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 (6.9), Brain - Frontal Cortex (BA9) (6.8), Brain - Anterior cingulate cortex (BA24) (6.0), Brain - Cerebellar Hemisphere (5.5), and Brain - Cerebellum (4.7).

Integrated Proteomics: protein expression 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: Brain, retina and adrenal medulla
genes like me logo Genes that share expressions with ADCY1: view

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 35
  • 99.58 (n)
  • 99.82 (a)
ADCY1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADCY1 35
  • 88.57 (n)
  • 92.89 (a)
ADCY1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY1 35
  • 85.84 (n)
  • 90.88 (a)
ADCY1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adcy1 35
  • 88 (n)
  • 92.62 (a)
Adcy1 16
Adcy1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADCY1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Adcy1 35
  • 87.5 (n)
  • 92.6 (a)
chicken
(Gallus gallus)
Aves ADCY1 35
  • 74.68 (n)
  • 82.82 (a)
ADCY1 36
  • 78 (a)
OneToOne
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 ADCY1 (2 of 3) 36
  • 70 (a)
OneToMany
adcy1a 35
  • 70.87 (n)
  • 74.14 (a)
adcy1a 36
  • 68 (a)
OneToMany
adcy1b 36
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000727 35
  • 56.68 (n)
  • 48.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta rut 35
  • 56.88 (n)
  • 50.46 (a)
rut 36
  • 21 (a)
OneToOne
rut 37
  • 41 (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

Selected 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 MAF
rs3536 -- 45,677,063(+) cacca(C/T)ccacc intron-variant
rs3537 -- 45,676,992(+) GGCAT(A/T)TTTTG intron-variant
rs4209 -- 45,723,093(-) TCCCT(-/TTA/TTTA)TTATT utr-variant-3-prime
rs12754 -- 45,721,595(+) GGTTG(G/T)ATTTG utr-variant-3-prime
rs867516 -- 45,579,970(-) GGGGG(C/G)GAGGG 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

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

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.

(1) University of Copenhagen DISEASES for ADCY1 Gene

(5) Novoseek inferred disease relationships for ADCY1 Gene

Disease -log(P) Hits PubMed IDs
cholera 41.4 2
thyroid carcinoma 14.8 1
adenoma 3.42 1
leukemia 0 1
ischemia 0 1

Relevant External Links for ADCY1

Genetic Association Database (GAD)
ADCY1
Human Genome Epidemiology (HuGE) Navigator
ADCY1
genes like me logo Genes that share disorders with ADCY1: view

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
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 48
  4. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need A.C. … Goldstein D.B. (Eur. J. Hum. Genet. 2009) 3 48
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4

Products for ADCY1 Gene

Sources for ADCY1 Gene

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