ADCY10 adenylate cyclase 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADCY10provided by HGNC
Official Full Name: adenylate cyclase 10provided by HGNC
Primary source: HGNC:HGNC:21285
See related: Ensembl:ENSG00000143199 MIM:605205; AllianceGenome:HGNC:21285
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: SAC; HCA2; SACI; Sacy; hsAC; HEL-S-7a
Summary: The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]
Expression: Restricted expression toward testis (RPKM 5.6) See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (167809386..167914134, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (167160872..167265599, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (167778623..167883372, complement)

Chromosome 1 - NC_000001.11 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?

Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review.
Title: Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review.
Endogenous glutamate determines ferroptosis sensitivity via ADCY10-dependent YAP suppression in lung adenocarcinoma.
Title: Endogenous glutamate determines ferroptosis sensitivity via ADCY10-dependent YAP suppression in lung adenocarcinoma.
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD(+) redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation.
Title: Soluble adenylyl cyclase regulates the cytosolic NADH/NAD(+) redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation.
Soluble adenylyl cyclase links Ca(2+) entry to Ca(2+)/cAMP-response element binding protein (CREB) activation in vascular smooth muscle.
Title: Soluble adenylyl cyclase links Ca(2+) entry to Ca(2+)/cAMP-response element binding protein (CREB) activation in vascular smooth muscle.
Study provides the first report of a homozygous frameshift variation (c.1205_1206del; dbSNP rs779944215) in the exonic region of ADCY10 associated with recessive asthenozoospermia, in an inbred family from Iran. Noticeably, all relatives who were heterozygous or homozygous for the variant had a history of developing calcium kidney stones, confirming the association with absorptive hypercalciuria (OMIM#143870).
Title: ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.
the higher level of cyclic AMP observed in Parkin-mutant fibroblasts can contribute to a higher level of activity/expression by soluble adenylyl cyclase.
Title: Increased Levels of cAMP by the Calcium-Dependent Activation of Soluble Adenylyl Cyclase in Parkin-Mutant Fibroblasts.
results thus provide 1) novel insights into the communication between allosteric regulatory and active sites, 2) a novel mechanism for sAC inhibition, and 3) pharmacological compounds targeting this allosteric site and utilizing this mode of inhibition.
Title: Bithionol Potently Inhibits Human Soluble Adenylyl Cyclase through Binding to the Allosteric Activator Site.
The data support an important role for prostaglandin activation of sAC and PKA in H2O2-induced barrier disruption.
Title: Soluble adenylyl cyclase mediates hydrogen peroxide-induced changes in epithelial barrier function.
Evaluation of soluble adenylyl cyclase expression using R21 antibody is a useful diagnostic adjunct in the evaluation of margins of LM during slow Mohs surgery.
Title: Soluble adenylyl cyclase antibody (R21) as a diagnostic adjunct in the evaluation of lentigo maligna margins during slow Mohs surgery.
shows that in fibroblast cultures inhibition by KH7 of production in the mitochondrial matrix by soluble adenylyl cyclase
Title: Intramitochondrial adenylyl cyclase controls the turnover of nuclear-encoded subunits and activity of mammalian complex I of the respiratory chain.

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
Familial idiopathic hypercalciuria MedGen: C0342639 OMIM: 143870 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75875 (e-PCR)
- UniSTS:12702

AL009926 (e-PCR)
- UniSTS:39598

D1S431 (e-PCR), detects polymorphism
- UniSTS:51403

D1S431 (e-PCR), detects polymorphism
- UniSTS:32760

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATPase 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 adenylate cyclase activity	NAS Non-traceable Author Statement more info	PubMed
enables bicarbonate binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NOT involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cAMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cAMP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to inorganic substance	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose catabolic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial ATP transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in neuron projection extension	IEA Inferred from Electronic Annotation more info
involved_in neuron projection maintenance	IEA Inferred from Electronic Annotation more info
involved_in neuron projection retraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon extension	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycogen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitochondrial depolarization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-threonine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein targeting to mitochondrion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane repolarization	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitophagy	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in astrocyte end-foot	IEA Inferred from Electronic Annotation more info
located_in basal part of cell	IEA Inferred from Electronic Annotation more info
located_in central region of growth cone	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
colocalizes_with microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
colocalizes_with motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: adenylate cyclase type 10

Names: 3',5'-cyclic AMP synthetase; AH-related protein; ATP pyrophosphate-lyase; adenylate cyclase 10, soluble; epididymis secretory sperm binding protein Li 7a; germ cell soluble adenylyl cyclase; testicular soluble adenylyl cyclase (SAC)

NP_001161221.1

EC 4.6.1.1

NP_001284701.1

EC 4.6.1.1

NP_060887.2

EC 4.6.1.1

XP_005245387.1

EC 4.6.1.1

XP_006711512.1

EC 4.6.1.1

XP_011508062.1

EC 4.6.1.1

XP_011508064.1

EC 4.6.1.1

XP_011508065.1

EC 4.6.1.1

XP_011508068.1

EC 4.6.1.1

XP_016857267.1

EC 4.6.1.1

XP_047281109.1

EC 4.6.1.1

XP_054193620.1

EC 4.6.1.1

XP_054193621.1

EC 4.6.1.1

XP_054193622.1

EC 4.6.1.1

XP_054193623.1

EC 4.6.1.1

XP_054193624.1

EC 4.6.1.1

XP_054193625.1

EC 4.6.1.1

XP_054193626.1

EC 4.6.1.1

XP_054193627.1

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_016139.2 RefSeqGene

Range

5000..109748

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001167749.3 → NP_001161221.1 adenylate cyclase type 10 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks multiple exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AF299350, AK302884, BC117366, DB063660, Z99943

Consensus CDS

CCDS53426.1

UniProtKB/Swiss-Prot

Q96PN6

Related

ENSP00000441992.1, ENST00000545172.5

Conserved Domains (1) summary

cd07302
Location:139 → 308

CHD; cyclase homology domain
NM_001297772.2 → NP_001284701.1 adenylate cyclase type 10 isoform 3

See identical proteins and their annotated locations for NP_001284701.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AF299350, AF331033, AK302884, BC117366, DB063660, Z99943

Consensus CDS

CCDS72977.1

UniProtKB/Swiss-Prot

Q96PN6

Related

ENSP00000356822.1, ENST00000367848.1

Conserved Domains (2) summary

cd07302
Location:200 → 369

CHD; cyclase homology domain

cl11967
Location:6 → 122

Nucleotidyl_cyc_III; Class III nucleotidyl cyclases
NM_018417.6 → NP_060887.2 adenylate cyclase type 10 isoform 1

See identical proteins and their annotated locations for NP_060887.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AF299350, AK302884, BC117366, DB063660, Z99943

Consensus CDS

CCDS1265.1

UniProtKB/Swiss-Prot

B4DZF0, F5GWS5, O95558, Q5R329, Q5R330, Q8WXV4, Q96PN6, Q9NNX0

UniProtKB/TrEMBL

A0A0K0K1J8

Related

ENSP00000356825.4, ENST00000367851.9

Conserved Domains (2) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

167809386..167914134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509762.4 → XP_011508064.1 adenylate cyclase type 10 isoform X2

Conserved Domains (3) summary

cd07302
Location:244 → 413

CHD; cyclase homology domain

COG2114
Location:42 → 130

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]

cl11967
Location:43 → 142

Nucleotidyl_cyc_III; Class III nucleotidyl cyclases
XM_011509763.4 → XP_011508065.1 adenylate cyclase type 10 isoform X3

Conserved Domains (2) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]
XM_006711449.5 → XP_006711512.1 adenylate cyclase type 10 isoform X4

Conserved Domains (2) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]
XM_011509760.4 → XP_011508062.1 adenylate cyclase type 10 isoform X1

See identical proteins and their annotated locations for XP_011508062.1

UniProtKB/Swiss-Prot

B4DZF0, F5GWS5, O95558, Q5R329, Q5R330, Q8WXV4, Q96PN6, Q9NNX0

UniProtKB/TrEMBL

A0A0K0K1J8

Conserved Domains (2) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]
XM_047425153.1 → XP_047281109.1 adenylate cyclase type 10 isoform X5
XM_005245330.6 → XP_005245387.1 adenylate cyclase type 10 isoform X7

Conserved Domains (3) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]

pfam13191
Location:485 → 669

AAA_16; AAA ATPase domain
XM_017001778.3 → XP_016857267.1 adenylate cyclase type 10 isoform X6
XM_011509766.4 → XP_011508068.1 adenylate cyclase type 10 isoform X8

Conserved Domains (3) summary

cd07302
Location:40 → 214

CHD; cyclase homology domain

COG2114
Location:42 → 197

AcyC; Adenylate cyclase, class 3 [Signal transduction mechanisms]

pfam13191
Location:485 → 669

AAA_16; AAA ATPase domain