PM20D1 (gene): Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}


'''Peptidase M20 domain containing 1''' is a [[protein]] that in humans is encoded by the PM20D1 [[gene]].
'''Peptidase M20 domain containing 1''' is a circulating [[enzyme]] of the mammalian M20 peptidase family. It is encoded by the PM20D1 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Peptidase M20 domain containing 1 | url = https://www.ncbi.nlm.nih.gov/gene/148811 | access-date = 2016-05-13 }}</ref> PM20D1 catalyzes the synthesis of N-acyl amino acids from free fatty acids and free amino acids as well as the reverse hydrolytic reaction.<ref name=":0">{{cite journal | vauthors = Long JZ, Svensson KJ, Bateman LA, Lin H, Kamenecka T, Lokurkar IA, Lou J, Rao RR, Chang MR, Jedrychowski MP, Paulo JA, Gygi SP, Griffin PR, Nomura DK, Spiegelman BM | display-authors = 6 | title = The Secreted Enzyme PM20D1 Regulates Lipidated Amino Acid Uncouplers of Mitochondria | journal = Cell | volume = 166 | issue = 2 | pages = 424–435 | date = July 2016 | pmid = 27374330 | doi = 10.1016/j.cell.2016.05.071 }}</ref> PM20D1, along with [[Fatty acid amide hydrolase|FAAH]], constitute the two dominant mammalian enzymes that physiologically regulate the [[N-Acylamides|fatty acid amide]] family of signaling metabolites.
<ref name="entrez">
{{cite web
| title = Entrez Gene: Peptidase M20 domain containing 1
| url = https://www.ncbi.nlm.nih.gov/gene/148811
| accessdate = 2016-05-13
}}</ref>


In mice, PM20D1 is highly expressed in liver, kidney, small intestine, and brown fat. Its expression in adipose tissues is increased under hypermetabolic conditions. Genetic elevation of circulating PM20D1 in mice leads to accumulation of multiple circulating N-acyl amino acid species and a hypermetabolic phenotype.<ref name=":0" /> PM20D1-KO mice exhibit a bidirectional dysregulation of a distinct set of circulating N-acyl amino acids and range of phenotypes, including insulin resistance, altered body temperature in cold, and anti-nociceptive behaviors to inflammatory pain.<ref>{{cite journal | vauthors = Long JZ, Roche AM, Berdan CA, Louie SM, Roberts AJ, Svensson KJ, Dou FY, Bateman LA, Mina AI, Deng Z, Jedrychowski MP, Lin H, Kamenecka TM, Asara JM, Griffin PR, Banks AS, Nomura DK, Spiegelman BM | display-authors = 6 | title = N-acyl amino acid control of metabolism and nociception | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 115 | issue = 29 | pages = E6937-E6945 | date = July 2018 | pmid = 29967167 | doi = 10.1073/pnas.1803389115 }}</ref>


== Clinical significance ==
In humans, the PM20D1 locus has been associated with [[Alzheimer's disease]]. Elevation of brain PM20D1 is neuroprotective in rodent models of AD.<ref>{{cite journal | vauthors = Sanchez-Mut JV, Heyn H, Silva BA, Dixsaut L, Garcia-Esparcia P, Vidal E, Sayols S, Glauser L, Monteagudo-Sánchez A, Perez-Tur J, Ferrer I, Monk D, Schneider B, Esteller M, Gräff J | display-authors = 6 | title = PM20D1 is a quantitative trait locus associated with Alzheimer's disease | journal = Nature Medicine | volume = 24 | issue = 5 | pages = 598–603 | date = May 2018 | pmid = 29736028 | doi = 10.1038/s41591-018-0013-y }}</ref>


== References ==
== References ==
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== Further reading ==
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Latest revision as of 13:47, 16 August 2018

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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Peptidase M20 domain containing 1 is a circulating enzyme of the mammalian M20 peptidase family. It is encoded by the PM20D1 gene.[1] PM20D1 catalyzes the synthesis of N-acyl amino acids from free fatty acids and free amino acids as well as the reverse hydrolytic reaction.[2] PM20D1, along with FAAH, constitute the two dominant mammalian enzymes that physiologically regulate the fatty acid amide family of signaling metabolites.

In mice, PM20D1 is highly expressed in liver, kidney, small intestine, and brown fat. Its expression in adipose tissues is increased under hypermetabolic conditions. Genetic elevation of circulating PM20D1 in mice leads to accumulation of multiple circulating N-acyl amino acid species and a hypermetabolic phenotype.[2] PM20D1-KO mice exhibit a bidirectional dysregulation of a distinct set of circulating N-acyl amino acids and range of phenotypes, including insulin resistance, altered body temperature in cold, and anti-nociceptive behaviors to inflammatory pain.[3]

Clinical significance

In humans, the PM20D1 locus has been associated with Alzheimer's disease. Elevation of brain PM20D1 is neuroprotective in rodent models of AD.[4]

References

  1. "Entrez Gene: Peptidase M20 domain containing 1". Retrieved 2016-05-13.
  2. 2.0 2.1 Long JZ, Svensson KJ, Bateman LA, Lin H, Kamenecka T, Lokurkar IA, et al. (July 2016). "The Secreted Enzyme PM20D1 Regulates Lipidated Amino Acid Uncouplers of Mitochondria". Cell. 166 (2): 424–435. doi:10.1016/j.cell.2016.05.071. PMID 27374330.
  3. Long JZ, Roche AM, Berdan CA, Louie SM, Roberts AJ, Svensson KJ, et al. (July 2018). "N-acyl amino acid control of metabolism and nociception". Proceedings of the National Academy of Sciences of the United States of America. 115 (29): E6937–E6945. doi:10.1073/pnas.1803389115. PMID 29967167.
  4. Sanchez-Mut JV, Heyn H, Silva BA, Dixsaut L, Garcia-Esparcia P, Vidal E, et al. (May 2018). "PM20D1 is a quantitative trait locus associated with Alzheimer's disease". Nature Medicine. 24 (5): 598–603. doi:10.1038/s41591-018-0013-y. PMID 29736028.