Misplaced Pages

ADCY10

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
(Redirected from SAC (gene)) Protein-coding gene in the species Homo sapiens

See also: Soluble adenylyl cyclase
ADCY10
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4CLK, 4CLL, 4CLP, 4CLS, 4CLT, 4CLU, 4CLW, 4CLY, 4CLZ, 4CM0, 4CM2, 4OYA, 4OYB, 4OYI, 4OYM, 4OYO, 4OYP, 4OYW, 4OYX, 4OYZ, 4OZ2, 4OZ3, 4UST, 4USU, 4USV, 4USW, 5D0R

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
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for ADCY10Genomic location for ADCY10
Band1q24.2Start167,809,386 bp
End167,914,215 bp
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)
Chromosome 1 (mouse)Genomic location for ADCY10Genomic location for ADCY10
Band1|1 H2.3Start165,312,752 bp
End165,404,343 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sperm

  • left testis

  • right testis

  • buccal mucosa cell

  • right lobe of liver

  • testicle

  • gonad

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • mucosa of transverse colon
Top expressed in
  • spermatid

  • spermatocyte

  • seminiferous tubule

  • embryo

  • embryo

  • granulocyte

  • morula

  • blastocyst

  • zygote

  • lumbar subsegment of spinal cord
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55811

271639

Ensembl

ENSG00000143199

ENSMUSG00000026567

UniProt

Q96PN6

Q8C0T9

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
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.

Function

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.

Clinical significance

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

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000143199Ensembl, May 2017
  2. ^ 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. ^ 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.

External links

Further reading

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


Phosphorus–oxygen lyases (EC 4.6)
4.6.1
Adenylate cyclase
(4.6.1.1)
intracellular
extracellular
Guanylate cyclase
(4.6.1.2)
soluble guanylyl cyclase
guanylate cyclase-coupled receptor
Other
Enzymes
Activity
Regulation
Classification
Kinetics
Types
Portal:
Stub icon

This enzyme-related article is a stub. You can help Misplaced Pages by expanding it.

Categories: