ADCY1 adenylate cyclase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 7p12.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (45574140..45723116)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (45734849..45884850)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (45613739..45762715)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R59992 (e-PCR)
- UniSTS:30479

SHGC-148462 (e-PCR)
- UniSTS:176408

G19797 (e-PCR)
- UniSTS:17206

A001Y39 (e-PCR)
- UniSTS:17207

WI-18399 (e-PCR)
- UniSTS:57

SHGC-57854 (e-PCR)
- UniSTS:41834

D7S536E (e-PCR)
- UniSTS:33903

D1S1423 (e-PCR)
- UniSTS:149619

A008R05 (e-PCR)
- UniSTS:68992

AFM158xb12 (e-PCR)
- UniSTS:71558

D16S325 (e-PCR)
- UniSTS:147089

RH99222 (e-PCR)
- UniSTS:83875

WI-11127 (e-PCR)
- UniSTS:31176

STS-Z41290 (e-PCR)
- UniSTS:53708

D7S536E (e-PCR)
- UniSTS:53992

RH80785 (e-PCR)
- UniSTS:88299

ADCY1_682 (e-PCR)
- UniSTS:276973

ADCY1_V65 (e-PCR)
- UniSTS:276973

SHGC-147274 (e-PCR)
- UniSTS:172783

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 cAMP-mediated signaling	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 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 more info	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

EC 4.6.1.1

NP_066939.1

EC 4.6.1.1

XP_005249641.1

EC 4.6.1.1

XP_005249642.1

EC 4.6.1.1

XP_054213079.1

EC 4.6.1.1

XP_054213080.1

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_034198.1 RefSeqGene

Range

5229..153977

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1172

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

45574140..45723116

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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