Human Gene ADCY10 (ENST00000367851.9_7) from GENCODE V47lift37
  Description: adenylate cyclase 10, transcript variant 1 (from RefSeq NM_018417.6)
Gencode Transcript: ENST00000367851.9_7
Gencode Gene: ENSG00000143199.18_11
Transcript (Including UTRs)
   Position: hg19 chr1:167,778,623-167,883,372 Size: 104,750 Total Exon Count: 33 Strand: -
Coding Region
   Position: hg19 chr1:167,778,915-167,874,378 Size: 95,464 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:167,778,623-167,883,372)mRNA (may differ from genome)Protein (1610 aa)
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HGNCMalacardsMGIOMIMPubMedReactome
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-  Comments and Description Text from UniProtKB
  ID: ADCYA_HUMAN
DESCRIPTION: RecName: Full=Adenylate cyclase type 10; EC=4.6.1.1; AltName: Full=AH-related protein; AltName: Full=Adenylate cyclase homolog; AltName: Full=Germ cell soluble adenylyl cyclase; Short=hsAC; Short=sAC; AltName: Full=Testicular soluble adenylyl cyclase;
FUNCTION: Soluble adenylyl cyclase that has a critical role in mammalian spermatogenesis. Produces the cAMP which mediates in part the cAMP-responsive nuclear factors indispensable for maturation of sperm in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization. May be the bicarbonate sensor. Involved in ciliary beat regulation.
CATALYTIC ACTIVITY: ATP = 3',5'-cyclic AMP + diphosphate.
COFACTOR: Binds 2 magnesium ions per subunit (By similarity).
ENZYME REGULATION: Activated by manganese or magnesium ions. In the presence of magnesium ions, the enzyme is activated by bicarbonate while in the presence of manganese ions, the enzyme is inhibited by bicarbonate. In the absence of magnesium and bicarbonate, the enzyme is weakly activated by calcium.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.8 mM for ATP-Mn(2+); KM=2.41 mM for Mg(2+);
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Note=Distributed to subcellular compartments containing cAMP targets. Found as a plasma membrane-associated protein, protein concentrated in the perinuclear region and protein colocalized with actin or tubulin.
TISSUE SPECIFICITY: Weakly expressed in multiple tissues. Expressed in brain, heart, kidney, liver, lung, pancreas, peripheral blood leukocytes, placenta, skeletal muscle, stomach, thymus, airway epithelial cells, duodenum, jejunum and ileum. Very low level of expression in bone.
PTM: Cleavage may occur to generate the active 48 kDa form.
DISEASE: Genetic variations in ADCY10 are a cause of susceptibility to hypercalciuria absorptive type 2 (HCA2) [MIM:143870]. Absorptive hypercalciuria is a common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis.
SIMILARITY: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
SIMILARITY: Contains 2 guanylate cyclase domains.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADCY10
Diseases sorted by gene-association score: hypercalciuria, absorptive* (679), idiopathic hypercalciuria* (350), cholera (15), brain ischemia (13), pseudohypoparathyroidism, type ii (13), neonatal hypothyroidism (12), korean hemorrhagic fever (10), conjunctival folliculosis (9), pseudohypoparathyroidism (9), morphine dependence (8), juvenile dermatitis herpetiformis (7), acute cystitis (7), acute conjunctivitis (6), hypophosphatemic rickets with hypercalciuria (6), osteogenesis imperfecta, type i (5), primary hypomagnesemia (5), parathyroid gland disease (5), charcot-marie-tooth disease, type 1e (4), hyperparathyroidism, familial primary (4), dilated cardiomyopathy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.31 RPKM in Testis
Total median expression: 12.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.30217-0.273 Picture PostScript Text
3' UTR -53.87292-0.184 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001054 - A/G_cyclase
IPR016577 - Adenylate_cylcase_typ10

Pfam Domains:
PF00211 - Adenylate and Guanylate cyclase catalytic domain

SCOP Domains:
81901 - HCP-like
48452 - TPR-like
52540 - P-loop containing nucleoside triphosphate hydrolases
55073 - Nucleotide cyclase

ModBase Predicted Comparative 3D Structure on Q96PN6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004016 adenylate cyclase activity
GO:0005524 ATP binding
GO:0016829 lyase activity
GO:0016849 phosphorus-oxygen lyase activity
GO:0030145 manganese ion binding
GO:0046872 metal ion binding
GO:0051117 ATPase binding
GO:0071890 bicarbonate binding

Biological Process:
GO:0003351 epithelial cilium movement
GO:0006171 cAMP biosynthetic process
GO:0007283 spermatogenesis
GO:0009190 cyclic nucleotide biosynthetic process
GO:0035556 intracellular signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0071241 cellular response to inorganic substance

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0030426 growth cone
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0045177 apical part of cell
GO:0045178 basal part of cell
GO:0048471 perinuclear region of cytoplasm
GO:0015630 microtubule cytoskeleton
GO:0031514 motile cilium


-  Descriptions from all associated GenBank mRNAs
  AK302884 - Homo sapiens cDNA FLJ50308 complete cds, highly similar to Homo sapiens testicular soluble adenylyl cyclase (SAC), mRNA.
BC117366 - Homo sapiens adenylate cyclase 10 (soluble), mRNA (cDNA clone MGC:150975 IMAGE:40125917), complete cds.
BC117372 - Homo sapiens adenylate cyclase 10 (soluble), mRNA (cDNA clone MGC:150981 IMAGE:40125923), complete cds.
GQ472219 - Homo sapiens epididymis secretory sperm binding protein Li 7a (HEL-S-7a) mRNA, complete cds.
AF299350 - Homo sapiens testicular soluble adenylyl cyclase mRNA, complete cds.
AL035122 - H.sapiens gene from PACs 295C6 and 313L4.
AF331033 - Homo sapiens AH-related protein mRNA, complete cds, alternatively spliced.
AF271058 - Homo sapiens soluble adenylyl cyclase mRNA, complete cds.
AF176813 - Homo sapiens soluble adenylyl cyclase mRNA, complete cds.
AK310395 - Homo sapiens cDNA, FLJ17437.
AK310531 - Homo sapiens cDNA, FLJ17573.
JD261549 - Sequence 242573 from Patent EP1572962.
JD316743 - Sequence 297767 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PN6 (Reactome details) participates in the following event(s):

R-HSA-5610727 GPR161 promotes cAMP production in a G alpha(s)-dependent manner
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ADCYA_HUMAN, B4DZF0, ENST00000367851.1, ENST00000367851.2, ENST00000367851.3, ENST00000367851.4, ENST00000367851.5, ENST00000367851.6, ENST00000367851.7, ENST00000367851.8, F5GWS5, NM_018417, O95558, Q5R329, Q5R330, Q8WXV4, Q96PN6, Q9NNX0, SAC, uc318ggg.1, uc318ggg.2
UCSC ID: ENST00000367851.9_7
RefSeq Accession: NM_018417.6
Protein: Q96PN6 (aka ADCYA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.