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ADCY10

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ADCY10
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesADCY10, HCA2, SAC, SACI, Sacy, hsAC, HEL-S-7a, adenylate cyclase 10 (soluble), adenylate cyclase 10, soluble, adenylate cyclase 10
External IDsOMIM: 605205; MGI: 2660854; HomoloGene: 10188; GeneCards: ADCY10; OMA:ADCY10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001167749
NM_001297772
NM_018417

NM_173029
NM_001357427

RefSeq (protein)

NP_001161221
NP_001284701
NP_060887

NP_766617
NP_001344356

Location (UCSC)Chr 1: 167.81 – 167.91 MbChr 1: 165.31 – 165.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Adenylyl cyclase 10 also known as ADCY10 is an enzyme that, in humans, is encoded by the ADCY10 gene.[5]

Function

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The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is localized in the cytoplasm and is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction.[6]

Clinical significance

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Mutations in the ADCY10 gene are associated with an increased risk of adsorptive hypercalciuria[5] and male infertility.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143199Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026567Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Reed BY, Heller HJ, Gitomer WL, Pak CY (November 1999). "Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24". The Journal of Clinical Endocrinology and Metabolism. 84 (11): 3907–3913. doi:10.1210/jcem.84.11.6155. PMID 10566627.
  6. ^ "Entrez Gene: ADCY10".
  7. ^ Akbari A, Pipitone GB, Anvar Z, Jaafarinia M, Ferrari M, Carrera P, et al. (June 2019). "ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria". Human Reproduction. 34 (6): 1155–1164. doi:10.1093/humrep/dez048. PMID 31119281.
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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.