NT5E

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

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RefSeq (protein)

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5'-nucleotidase (5'-NT), also known as ecto-5'-nucleotidase or CD73 (cluster of differentiation 73), is an enzyme that in humans is encoded by the NT5E gene.[1] CD73 commonly serves to convert AMP to adenosine.

Function

Ecto-5-prime-nucleotidase (5-prime-ribonucleotide phosphohydrolase; EC 3.1.3.5) catalyzes the conversion at neutral pH of purine 5-prime mononucleotides to nucleosides, the preferred substrate being AMP. The enzyme consists of a dimer of 2 identical 70-kD subunits bound by a glycosyl phosphatidyl inositol linkage to the external face of the plasma membrane. The enzyme is used as a marker of lymphocyte differentiation. Consequently, a deficiency of NT5 occurs in a variety of immunodeficiency diseases (e.g., see MIM 102700, MIM 300300). Other forms of 5-prime nucleotidase exist in the cytoplasm and lysosomes and can be distinguished from ecto-NT5 by their substrate affinities, requirement for divalent magnesium ion, activation by ATP, and inhibition by inorganic phosphate.[2] Rare allelic variants are associated with a syndrome of adult-onset calcification of joints and arteries (CALJA) affecting the iliac, femoral, and tibial arteries reducing circulation in the legs and the joints of the hands and feet causing pain.[3][4][5]

See also

References

  1. Misumi Y, Ogata S, Ohkubo K, Hirose S, Ikehara Y (August 1990). "Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form". European Journal of Biochemistry. 191 (3): 563–9. doi:10.1111/j.1432-1033.1990.tb19158.x. PMID 2129526.
  2. "Entrez Gene: NT5E 5'-nucleotidase, ecto (CD73)".
  3. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M (February 2011). "NT5E mutations and arterial calcifications". The New England Journal of Medicine. 364 (5): 432–42. doi:10.1056/NEJMoa0912923. PMC 3049958. PMID 21288095.
  4. Sharp J (March 1954). "Heredo-familial vascular and articular calcification". Annals of the Rheumatic Diseases. 13 (1): 15–27. doi:10.1136/ard.13.1.15. PMC 1030367. PMID 13149051.
  5. Online Mendelian Inheritance in Man (OMIM) 211800

Further reading

External links

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