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    ADCY1 adenylate cyclase 1 [ Homo sapiens (human) ]

    Gene ID: 107, updated on 4-Jan-2025

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    HIV-1 interactions

    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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables adenylate cyclase activity  
    enables calcium- and calmodulin-responsive adenylate cyclase activity  
    enables calcium- and calmodulin-responsive adenylate cyclase activity PubMed 
    enables calmodulin binding  
    enables metal ion binding  
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway  
    involved_in axonogenesis  
    involved_in cAMP biosynthetic process  
    involved_in cAMP biosynthetic process  
    involved_in cellular response to calcium ion  
    involved_in cellular response to forskolin  
    involved_in circadian rhythm  
    involved_in intracellular signal transduction  
    involved_in long-term memory  
    involved_in neuroinflammatory response  
    involved_in positive regulation of CREB transcription factor activity  
    involved_in positive regulation of long-term synaptic potentiation  
    involved_in presynaptic modulation of chemical synaptic transmission  
    involved_in regulation of circadian rhythm  
    involved_in response to xenobiotic stimulus  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse  
    located_in cytoplasm  
    located_in extracellular exosome PubMed 
    located_in glutamatergic synapse  
    located_in hippocampal mossy fiber to CA3 synapse  
    located_in membrane raft  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    located_in postsynaptic density membrane  
    located_in presynapse  

    General protein information

    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)

    NEW Try the new Transcript table

    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_001281768.2NP_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:33228
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:69251
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam16214
      Location:367
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    2. NM_021116.4NP_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:258453
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:8591056
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam16214
      Location:161292
      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_005249584.4XP_005249641.1  adenylate cyclase type 1 isoform X1

      UniProtKB/TrEMBL
      Q59FG4
      Conserved Domains (4) summary
      smart00044
      Location:258453
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:294476
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam16214
      Location:161292
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
      cl11967
      Location:859978
      Nucleotidyl_cyc_III; Class III nucleotidyl cyclases
    2. XM_005249585.3XP_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:258453
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:294476
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam16214
      Location:161292
      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_054357104.1XP_054213079.1  adenylate cyclase type 1 isoform X1

      UniProtKB/TrEMBL
      Q59FG4
    2. XM_054357105.1XP_054213080.1  adenylate cyclase type 1 isoform X2

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