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ADCY9 adenylate cyclase 9 [ Homo sapiens (human) ]

Gene ID: 115, updated on 2-Nov-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
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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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