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ADCY1 adenylate cyclase 1 [ Homo sapiens (human) ]

Gene ID: 107, updated on 14-Nov-2024

Summary

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Official Symbol
ADCY1provided by HGNC
Official Full Name
adenylate cyclase 1provided by HGNC
Primary source
HGNC:HGNC:232
See related
Ensembl:ENSG00000164742 MIM:103072; AllianceGenome:HGNC:232
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AC1; DFNB44
Summary
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]
Expression
Biased expression in brain (RPKM 14.3), testis (RPKM 1.6) and 7 other tissues See more
Orthologs
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Genomic context

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See ADCY1 in Genome Data Viewer
Location:
7p12.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (45574140..45723116)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (45734849..45884850)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (45613739..45762715)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45447719-45448219 Neighboring gene ELK1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45612981-45613541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45621441-45622436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:45639347-45639848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45648436-45649411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45685301-45686214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:45725783-45726284 Neighboring gene septin 7 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45808449-45809226 Neighboring gene uncharacterized LOC124901625 Neighboring gene general transcription factor IIi pseudogene 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning, chromosomal mapping, and expression of human fetal brain type I adenylyl cyclase. Villacres EC, et al. Genomics, 1993 May. PMID 8314585
  2. Overexpression of type-1 adenylyl cyclase in mouse forebrain enhances recognition memory and LTP. Wang H, et al. Nat Neurosci, 2004 Jun. PMID 15133516
  3. DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Ansar M, et al. Hum Hered, 2004. PMID 15583425, Free PMC Article
  4. Membranous adenylyl cyclase 1 activation is regulated by oxidation of N- and C-terminal methionine residues in calmodulin. Lübker C, et al. Biochem Pharmacol, 2015 Jan 15. PMID 25462816
  5. Circ-LTBP1 is involved in doxorubicin-induced intracellular toxicity in cardiomyocytes via miR-107/ADCY1 signal. Li C, et al. Mol Cell Biochem, 2022 Apr. PMID 35076816

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway.
    Title: Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway.
  2. Circ-LTBP1 is involved in doxorubicin-induced intracellular toxicity in cardiomyocytes via miR-107/ADCY1 signal.
    Title: Circ-LTBP1 is involved in doxorubicin-induced intracellular toxicity in cardiomyocytes via miR-107/ADCY1 signal.
  3. Pancreatic cancer-derived exosomal microRNA-19a induces beta-cell dysfunction by targeting ADCY1 and EPAC2.
    Title: Pancreatic cancer-derived exosomal microRNA-19a induces β-cell dysfunction by targeting ADCY1 and EPAC2.
  4. GNG7 and ADCY1 as diagnostic and prognostic biomarkers for pancreatic adenocarcinoma through bioinformatic-based analyses.
    Title: GNG7 and ADCY1 as diagnostic and prognostic biomarkers for pancreatic adenocarcinoma through bioinformatic-based analyses.
  5. Mechanistic investigations identified adenylate cyclase 1 (ADCY1) as a direct target of miR-23a-3p in mucosal melanoma, and knockdown of ADCY1 recapitulated all the phenotypic characteristics of miR-23a-3p overexpression.
    Title: MicroRNA-23a-3p Inhibits Mucosal Melanoma Growth and Progression through Targeting Adenylate Cyclase 1 and Attenuating cAMP and MAPK Pathways.
  6. data indicate that ST034307 is a selective small-molecule inhibitor of AC1 and suggest that selective AC1 inhibitors may be useful for managing pain.
    Title: Identification of a selective small-molecule inhibitor of type 1 adenylyl cyclase activity with analgesic properties.
  7. Data show that the adenylate cyclase (AC) pathway as genes relating to the antitumor activity of xanthohumol (XN) against tumor cells, and the pathway regulates various cellular functions via activating protein kinase A (PKA)-dependent phosphorylation.
    Title: Protein kinase A inhibition facilitates the antitumor activity of xanthohumol, a valosin-containing protein inhibitor.
  8. Maps to 7p14.1-q11.22 between D7S2209 and marker D7S2435, maximum Lod score 5 for D7S1818.
    Title: DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.
  9. STC1 interferes with CALCRL signaling during osteoblastogenesis via adenylate cyclase inhibition.
    Title: STC1 interference on calcitonin family of receptors signaling during osteoblastogenesis via adenylate cyclase inhibition.
  10. AC1 catalytic activity can be adjusted by mediating calmodulin activation of AC1 by reversible methionine oxidation in calmodulin.
    Title: Membranous adenylyl cyclase 1 activation is regulated by oxidation of N- and C-terminal methionine residues in calmodulin.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 44
MedGen: C1857809 OMIM: 610154 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of adenylate cyclase 1 (ADCY1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The addition of HIV-1 gp120 with TNF-alpha to human B-cells stimulates cAMP production in a dose-dependent manner PubMed
Envelope transmembrane glycoprotein gp41 env Secretion of IL-10 is upregulated by HIV-1 gp41 in monocytes through activation of cAMP/adenylate cyclase and p70 (S6)-kinase; up-regulation of IL-10 is paralleled by an enhanced expression of the chemokine receptor CCR5 PubMed
Nef nef HIV-1 induces the upregulation of complement factor C3 in astrocytes and neurons through signaling pathways that involve protein kinase C and adenylate cyclase activation, which is an effect that may contribute to the pathogenesis of AIDS in the brain PubMed
Tat tat The gene expression of adenylate cyclase 1 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC cells PubMed
tat HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium- and calmodulin-responsive adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables calcium- and calmodulin-responsive adenylate cyclase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in axonogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cAMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cAMP biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to forskolin ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in circadian rhythm IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in long-term memory IEA
Inferred from Electronic Annotation
more info
  
involved_in neuroinflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in presynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adenylate cyclase type 1
Names
3',5'-cyclic AMP synthetase
ATP pyrophosphate-lyase 1
Ca(2+)/calmodulin-activated adenylyl cyclase
adenyl cyclase
adenylate cyclase 1 (brain)
adenylate cyclase type I
adenylyl cyclase 1
adenylyl cyclase subtype 1
NP_001268697.1
NP_066939.1
XP_005249641.1
XP_005249642.1
XP_054213079.1
XP_054213080.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034198.1 RefSeqGene

    Range
    5229..153977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1172

mRNA and Protein(s)

  1. NM_001281768.2 → NP_001268697.1  adenylate cyclase type 1 isoform 2

    See identical proteins and their annotated locations for NP_001268697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTR and has multiple differences in the coding region compared to variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC091439, BC041473
    Consensus CDS
    CCDS75593.1
    UniProtKB/TrEMBL
    C9J1J0
    Related
    ENSP00000392721.1, ENST00000432715.5
    Conserved Domains (3) summary
    smart00044
    Location:33 → 228
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:69 → 251
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:3 → 67
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

  2. NM_021116.4 → NP_066939.1  adenylate cyclase type 1 isoform 1

    See identical proteins and their annotated locations for NP_066939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB209496, AC069008, AC091439, AF497515
    Consensus CDS
    CCDS34631.1
    UniProtKB/Swiss-Prot
    A4D2L8, Q08828, Q75MI1
    UniProtKB/TrEMBL
    Q59FG4
    Related
    ENSP00000297323.7, ENST00000297323.12
    Conserved Domains (3) summary
    smart00044
    Location:258 → 453
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:859 → 1056
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:161 → 292
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    45574140..45723116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249584.4 → XP_005249641.1  adenylate cyclase type 1 isoform X1

    UniProtKB/TrEMBL
    Q59FG4
    Conserved Domains (4) summary
    smart00044
    Location:258 → 453
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:294 → 476
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:161 → 292
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    cl11967
    Location:859 → 978
    Nucleotidyl_cyc_III; Class III nucleotidyl cyclases

  2. XM_005249585.3 → XP_005249642.1  adenylate cyclase type 1 isoform X2

    See identical proteins and their annotated locations for XP_005249642.1

    Conserved Domains (3) summary
    smart00044
    Location:258 → 453
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:294 → 476
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:161 → 292
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    45734849..45884850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357104.1 → XP_054213079.1  adenylate cyclase type 1 isoform X1

  2. XM_054357105.1 → XP_054213080.1  adenylate cyclase type 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08828.2 GenPept UniProtKB/Swiss-Prot:Q08828

Gene LinkOut

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