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adenylate cyclase 5 OKDB#: 599
 Symbols: ADCY5 Species: human
 Synonyms: AC5, FDFM  Locus: 3q21.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Adenylyl cyclase (EC 4.6.1.1 ) catalyzes the transformation of ATP into cyclic AMP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase.

NCBI Summary: This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
General function Intracellular signaling cascade, Enzyme, Transferase
Comment Adenylyl cyclase is the prototypical second messenger generator. There are at least nine eight cloned membrane-bound adenylyl cyclases together with the testis soluble adenyl cyclase. The membrane bound enzymes are regulated by diverse G proteins and are regulated by one or other arm of the phospholipase C pathway. In addition to ligand-mediated signaling via G proteins, functional and ultrastructural investigations have shown that adenylyl cyclases are also intimately associated with sites of calcium ion entry into the cell.
Cellular localization Plasma membrane
Comment
Ovarian function Follicle development, Primary follicle growth, Preantral follicle growth, Antral follicle growth, Follicle atresia, Ovulation, Steroid metabolism, Luteinization
Comment Adenyl cyclase is important in mediating the actions of gonadotropins, VIP and other hormones in the ovary. Leung PC, et al. reviewed intracellular signaling in the gonads. Rojas FJ, et al. reviewed the role of the adenylyl cyclase system in the regulation of corpus luteum function in the human and in nonhuman primates.
Expression regulated by
Comment
Ovarian localization Cumulus, Granulosa, Theca, Luteal cells, Small luteal cells, Large luteal cells
Comment This gene was found in a rat ovarian cDNA library (Unigene).
Follicle stages Primary, Secondary, Antral, Preovulatory, Corpus luteum
Comment
Phenotypes
Mutations 1 mutations

Species: bovine
Mutation name:
type: naturally occurring
fertility: None
Comment: Polymorphic variants of bovine ADCY5 gene identified in GWAS analysis were significantly associated with ovarian morphological related traits. Li J et al. (2020) The reproductive performance (e.g. fertility) of dairy cows, which declined over past few decades due to the intense and intensive selection, needs to be improved. Previous genome-wide association study (GWAS) of female Holstein screened the Adenylate cyclase 5 (ADCY5) as the candidate gene for cow fertility. As a member of the adenylyl cyclases family, adenylate cyclase 5 (ADCY5) is famous for regulating extrapyramidal motor system related various neuropsychiatric diseases, and its genetic variant is reported to associate with lower birth and placenta weight which leads to asymmetric fetal growth restriction. It was hypothesized that ADCY5 may affect the fertility of cows by regulating the processes of ovarian development. Herein, genomic DNA from 768 ovaries samples of healthy unrelated Holstein cow in dry period were used to screen potential insertion/deletion (indel) mutations using eight pairs of primers, and we found three novel polymorphic indel variants, namely, rs385624978 (P3-D11-bp), rs433028962 (P5-I19-bp) and rs382393457 (P8-D19-bp). The minor allelic frequencies (MAF) of P3-D11-bp, P5-I19-bp and P8-D19-bp loci were 0.188, 0.365 and 0.06, respectively, and there were 7 different haplotypes. Additionally, linkage disequilibrium analysis demonstrated no linkage among them. Importantly, P3-D11-bp locus was significantly related to both ovarian width (P=1.0E-6) and corpus luteum diameter (P=0.015); P5-I19-bp locus had a significant relation with corpus albicans diameter (P=0.030) and ovaries with mutational homozygous genotype produced a superior corpus albicans diameter than those with other genotypes. Briefly, three novel indel mutations of bovine ADCY5 gene were identified and two of them were uncovered to be significantly correlated with ovarian phenotypic traits or corpus luteum or albicans traits. These findings contributed to the application of molecular marker-assisted selection (MAS) in improving female fertility in cattle, which could accelerate the development of the cattle industry.//////////////////

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Phenotypes and GWAS show phenotypes and GWAS
Links
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created: Jan. 31, 2000, midnight by: hsueh   email:
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last update: Sept. 23, 2020, 2:38 p.m. by: hsueh    email:



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