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Aliases for ADCY1 Gene

Aliases for ADCY1 Gene

  • Adenylate Cyclase 1 2 3 5
  • Ca(2+)/Calmodulin-Activated Adenylyl Cyclase 3 4
  • Deafness, Autosomal Recessive 44 2 3
  • Adenylate Cyclase 1 (Brain) 2 3
  • ATP Pyrophosphate-Lyase 1 3 4
  • Adenylate Cyclase Type I 3 4
  • Adenylyl Cyclase 1 3 4
  • EC 4.6.1.1 4 61
  • 3,5-Cyclic AMP Synthetase 3
  • Adenylate Cyclase Type 1 3
  • Adenyl Cyclase 3
  • DFNB44 3
  • AC1 3

External Ids for ADCY1 Gene

Previous HGNC Symbols for ADCY1 Gene

  • DFNB44

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) 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 GPCR and DAG and IP3 signaling. GO annotations related to this gene include nucleotide binding and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY6.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F045563 0.2 ENCODE 5.3 -9.5 -9475 1.7 SMARCA4 POLR2A ADCY1 ENSG00000226999
GH07F045524 0.2 ENCODE 5 -49.1 -49067 1.7 POLR2A SMARCA4 NR2F2 GTF2IP13 ADCY1 ENSG00000226999 GC07M045490
GH07F045594 0.3 FANTOM5 1.8 +20.1 20079 0.2 SUZ12 MNT ADCY1 GC07P045643
GH07F045087 1.3 FANTOM5 ENCODE 1.5 -485.2 -485178 2.4 PKNOX1 ATF1 ZNF76 KLF17 BMI1 ZBTB40 GLIS2 SCRT2 RCOR1 KLF7 NACAD TBRG4 ADCY1 PIR44785 GC07M045104 GC07M045128 GC07M045132 SNORA5A
GH07F045574 0.7 ENCODE 0.8 +0.6 630 1.4 CTCF RNF2 SUZ12 L3MBTL2 NRF1 CHD1 ZBTB8A UBTF E2F1 GLIS2 ADCY1 GC07P045643
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001891690 360 1001 CTCF SUZ12 L3MBTL2 NRF1 CHD1 ZBTB8A UBTF E2F1 GLIS2 POLR2A

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

Post-translational modifications for ADCY1 Gene

Other Protein References for ADCY1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for ADCY1

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

Gene Ontology (GO) - Molecular Function for ADCY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity TAS --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0008294 calcium- and calmodulin-responsive adenylate cyclase activity IEA,NAS 8314585
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ADCY1: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
genes like me logo Genes that share ontologies with ADCY1: view

Pathways & Interactions for ADCY1 Gene

SuperPathways for ADCY1 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 RET signaling
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

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:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process ISS,IBA --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS --
GO:0007190 activation of adenylate cyclase activity TAS --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ADCY1: view

Drugs & Compounds for ADCY1 Gene

(32) 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
Phosphoric acid Approved Pharma 0
Pyruvic acid Approved Nutra 0
cyclic amp Experimental Pharma 0

(16) Additional Compounds for ADCY1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(5) Tocris Compounds for ADCY1 Gene

Compound Action Cas Number
KH 7 Selective soluble adenylyl cyclase inhibitor 330676-02-3
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:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for ADCY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADCY1 Gene:

ADCY1

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

Primer 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 34 35
  • 99.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ADCY1 34 35
  • 88.57 (n)
mouse
(Mus musculus)
Mammalia Adcy1 34 16 35
  • 88 (n)
rat
(Rattus norvegicus)
Mammalia Adcy1 34
  • 87.5 (n)
dog
(Canis familiaris)
Mammalia ADCY1 34 35
  • 85.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ADCY1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCY1 34 35
  • 74.68 (n)
lizard
(Anolis carolinensis)
Reptilia ADCY1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adcy1 34
  • 71.62 (n)
zebrafish
(Danio rerio)
Actinopterygii adcy1b 35
  • 73 (a)
OneToMany
adcy1a 34 35
  • 70.87 (n)
ADCY1 (2 of 3) 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta rut 36 34 35
  • 56.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000727 34
  • 56.68 (n)
worm
(Caenorhabditis elegans)
Secernentea acy-4 36
  • 51 (a)
Species where no ortholog for ADCY1 was found in the sources mined by GeneCards:
  • 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
rs587777497 Pathogenic 45,713,747(+) TGTGC(C/T)GAGGC reference, utr-variant-3-prime, stop-gained
rs1006299 -- 45,678,676(-) TCTTG(A/G)ACTAC intron-variant
rs10225980 -- 45,718,248(+) GACCA(A/G)CGGTG utr-variant-3-prime
rs10226873 -- 45,705,673(+) aatat(C/T)ctctc intron-variant
rs10241950 -- 45,684,351(+) ATAAC(C/T)GTGTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv24848 CNV loss 19812545
esv3891103 CNV loss 25118596
nsv1076890 CNV deletion 25765185
nsv475998 CNV novel sequence insertion 20440878
nsv523515 CNV loss 19592680
nsv818498 CNV loss 17921354
nsv950210 CNV deletion 24416366
nsv950211 CNV deletion 24416366
nsv958407 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
ADCY1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY1

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

Disorders for ADCY1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 44
  • autosomal recessive nonsyndromic deafness 44
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
cholera
  • cholera - vibrio cholerae
osteoblastoma
bone benign neoplasm
- 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. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. (PMID: 24482543) Santos-Cortez R.L. … Leal S.M. (Hum. Mol. Genet. 2014) 2 3 4 64
  2. 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 64
  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 46 64
  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 46 64
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64

Products for ADCY1 Gene

Sources for ADCY1 Gene

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