ADCY9 adenylate cyclase 9 [Homo sapiens (human)] - Gene

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
[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].
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.
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.
A sex-specific evolutionary interaction between ADCY9 and CETP.
Title: A sex-specific evolutionary interaction between ADCY9 and CETP.
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.
G protein-regulated endocytic trafficking of adenylyl cyclase type 9.
Title: G protein-regulated endocytic trafficking of adenylyl cyclase type 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.
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 EBI GWAS CatalogPubMed
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

1952 (e-PCR)
- UniSTS:43021

D16S2995 (e-PCR)
- UniSTS:70928

RH15630 (e-PCR)
- UniSTS:12056

RH47122 (e-PCR)
- UniSTS:91683

D16S3328 (e-PCR)
- UniSTS:32059

G35540 (e-PCR)
- UniSTS:57917

D22S1584 (e-PCR)
- UniSTS:473695

RH102020 (e-PCR)
- UniSTS:96354

RH68479 (e-PCR)
- UniSTS:36716

G35896 (e-PCR)
- UniSTS:32367

D16S3027 (e-PCR), detects polymorphism
- UniSTS:18060

G60525 (e-PCR)
- UniSTS:137631

D16S758 (e-PCR)
- UniSTS:61667

RH64918 (e-PCR)
- UniSTS:88292

ADCY9_213 (e-PCR)
- UniSTS:276976

STS-Z40718 (e-PCR)
- UniSTS:46581

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

EC 4.6.1.1

XP_005255136.1

EC 4.6.1.1

XP_011520655.1

EC 4.6.1.1

XP_054235484.1

EC 4.6.1.1

XP_054235485.1

EC 4.6.1.1

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

NG_011434.2 RefSeqGene

Range

4744..158533

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

3953387..4116442 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)