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NT5E

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsNT5E ; CALJA; CD73; E5NT; NT; NT5; NTE; eN; eNT
External IDsOMIM129190 MGI99782 HomoloGene1895 IUPHAR: 1232 ChEMBL: 5957 GeneCards: NT5E Gene
EC number3.1.3.5
RNA expression pattern
File:PBB GE NT5E 203939 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez490723959
EnsemblENSG00000135318ENSMUSG00000032420
UniProtP21589Q61503
RefSeq (mRNA)NM_001204813NM_011851
RefSeq (protein)NP_001191742NP_035981
Location (UCSC)Chr 6:
86.16 – 86.21 Mb
Chr 9:
88.33 – 88.37 Mb
PubMed search[1][2]

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". Eur. J. Biochem. 191 (3): 563–9. PMID 2129526. doi:10.1111/j.1432-1033.1990.tb19158.x. 
  2. "Entrez Gene: NT5E 5'-nucleotidase, ecto (CD73)". 
  3. St. Hilaire, Cynthia; Ziegler, Shira G.; Markello, Thomas C.; Brusco, Alfredo; Groden, Catherine; Gill, Fred; Carlson-Donohoe, Hannah; Lederman, Robert J.; Chen, Marcus Y.; Yang, Dan; Siegenthaler, Michael P.; Arduino, Carlo; Mancini, Cecilia; Freudenthal, Bernard; Stanescu, Horia C.; Zdebik, Anselm A.; Chaganti, R. Krishna; Nussbaum, Robert L.; Kleta, Robert; Gahl, William A.; Boehm, Manfred (2011). "NT5EMutations and Arterial Calcifications". New England Journal of Medicine 364 (5): 432–442. ISSN 0028-4793. doi:10.1056/NEJMoa0912923. 
  4. Sharp, J. (March 1954). "Heredo-familial vascular and articular calcification". Ann. Rheum. Dis. 13 (1): 15–27. PMC 1030367. PMID 13149051. doi:10.1136/ard.13.1.15. 
  5. Online 'Mendelian Inheritance in Man' (OMIM) 211800

Further reading

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External links

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