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    ADCY9 adenylate cyclase 9 [ Homo sapiens (human) ]

    Gene ID: 115, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ADCY9provided by HGNC
    Official Full Name
    adenylate cyclase 9provided by HGNC
    Primary source
    HGNC:HGNC:240
    See related
    Ensembl:ENSG00000162104 MIM:603302; AllianceGenome:HGNC:240
    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
    AC9; ACIX
    Summary
    Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.2), lung (RPKM 8.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADCY9 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3953387..4116442, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3980710..4143751, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4012654..4166443, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CREB binding protein Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3909888-3910072 Neighboring gene Sharpr-MPRA regulatory region 6998 Neighboring gene DPPA3 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 1734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7142 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3930393-3930969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4011545-4012044 Neighboring gene long intergenic non-protein coding RNA 2861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4031926-4032449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4032450-4032972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4037243-4037742 Neighboring gene uncharacterized LOC124903633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4046659-4047440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4047441-4048221 Neighboring gene Sharpr-MPRA regulatory region 15077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4061745-4062389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4061099-4061744 Neighboring gene Sharpr-MPRA regulatory region 11986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4075057-4075558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4075559-4076058 Neighboring gene uncharacterized LOC124900373 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4109664-4110164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4135427-4136150 Neighboring gene Sharpr-MPRA regulatory region 10289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4158443-4158942 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4163377-4163587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7145 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:4181341-4181842 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:4181843-4182342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4183414-4183954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4183955-4184494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4197155-4197686 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4229160-4229362 Neighboring gene uncharacterized LOC105371062 Neighboring gene Sharpr-MPRA regulatory region 7928 Neighboring gene DBI pseudogene 3

    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. Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population. Li H, et al. J Gene Med, 2021 Feb. PMID 33232543
    2. Pharmacogenomic determinants of the cardiovascular effects of dalcetrapib. Tardif JC, et al. Circ Cardiovasc Genet, 2015 Apr. PMID 25583994
    3. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome? Wójcik C, et al. Am J Med Genet A, 2010 Feb. PMID 20101707
    4. Coordinate down-regulation of adenylyl cyclase isoforms and the stimulatory G protein (G(s)) in intestinal epithelial cell differentiation. Choi LJ, et al. J Biol Chem, 2010 Apr 23. PMID 20157112, Free PMC Article
    5. Adenylyl cyclase type 9 gene polymorphisms are associated with asthma and allergy in Brazilian children. Teixeira HM, et al. Mol Immunol, 2017 Feb. PMID 28076799

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response.
      Title: The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response.
    2. Human adenylyl cyclase 9 is auto-stimulated by its isoform-specific C-terminal domain.
      Title: Human adenylyl cyclase 9 is auto-stimulated by its isoform-specific C-terminal domain.
    3. [Association of the ADCY9 gene and gene-environmental interaction with the susceptibility to childhood bronchial asthma].", trans "ADCY9.
      Title: [Association of the ADCY9 gene and gene-environmental interaction with the susceptibility to childhood bronchial asthma].
    4. Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population.
      Title: Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population.
    5. The ADCY9 genetic variants are associated with glioma susceptibility and patient prognosis.
      Title: The ADCY9 genetic variants are associated with glioma susceptibility and patient prognosis.
    6. A sex-specific evolutionary interaction between ADCY9 and CETP.
      Title: A sex-specific evolutionary interaction between ADCY9 and CETP.
    7. miR1423p targets AC9 to regulate sciatic nerve injuryinduced neuropathic pain by regulating the cAMP/AMPK signalling pathway.
      Title: miR‑142‑3p targets AC9 to regulate sciatic nerve injury‑induced neuropathic pain by regulating the cAMP/AMPK signalling pathway.
    8. G protein-regulated endocytic trafficking of adenylyl cyclase type 9.
      Title: G protein-regulated endocytic trafficking of adenylyl cyclase type 9.
    9. deductive reasoning leads to the suggestion that proteolytic cleavage of the C2b auto-inhibitory domain may govern the activation of AC9 by Gs-coupled receptors .
      Title: Auto-inhibition of adenylyl cyclase 9 (AC9) by an isoform-specific motif in the carboxyl-terminal region.
    10. ADCY9 immunoreactivity score was significantly higher (P=0.002) in tumor tissues (6.40+/-1.26, n=200) than in adjacent normal samples (4.13+/-0.83, n=8). The IRS and mRNA expression of ADCY9 were correlated to colon cancer TNM staging.
      Title: Elevated Adenylyl Cyclase 9 Expression Is a Potential Prognostic Biomarker for Patients with Colon Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 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

    Clone Names

    • FLJ12046

    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 adenylate cyclase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating adrenergic receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    adenylate cyclase type 9
    Names
    ATP pyrophosphate-lyase 9
    adenylate cyclase type IX
    adenylyl cyclase 9
    type IX ATP pyrophosphate-lyase
    NP_001107.2
    XP_005255136.1
    XP_011520655.1
    XP_054235484.1
    XP_054235485.1

    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_011434.2 RefSeqGene

      Range
      4744..158533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001116.4 → NP_001107.2  adenylate cyclase type 9

      See identical proteins and their annotated locations for NP_001107.2

      Status: REVIEWED

      Source sequence(s)
      AC005736, AJ133123, BQ614080
      Consensus CDS
      CCDS32382.1
      UniProtKB/Swiss-Prot
      A7E2V5, A7E2X2, D3DUD1, O60273, O60503, Q4ZHT9, Q4ZIR5, Q9BWT4, Q9UGP2
      Related
      ENSP00000294016.3, ENST00000294016.8
      Conserved Domains (2) summary
      pfam00211
      Location:385 → 573
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      cl26563
      Location:118 → 301
      DUF2339; Predicted membrane protein (DUF2339)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3953387..4116442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522353.3 → XP_011520655.1  adenylate cyclase type 9 isoform X2

      Conserved Domains (3) summary
      smart00044
      Location:326 → 544
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:385 → 573
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam10101
      Location:118 → 301
      DUF2339; Predicted membrane protein (DUF2339)

    2. XM_005255079.4 → XP_005255136.1  adenylate cyclase type 9 isoform X1

      Conserved Domains (3) summary
      smart00044
      Location:326 → 544
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:385 → 573
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam10101
      Location:118 → 301
      DUF2339; Predicted membrane protein (DUF2339)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3980710..4143751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379510.1 → XP_054235485.1  adenylate cyclase type 9 isoform X2

    2. XM_054379509.1 → XP_054235484.1  adenylate cyclase type 9 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60503.4 GenPept UniProtKB/Swiss-Prot:O60503

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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