NT5E

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NT5E
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNT5E, CALJA, CD73, E5NT, NT, NT5, NTE, eN, eNT, 5'-nucleotidase ecto
External IDsMGI: 99782 HomoloGene: 1895 GeneCards: NT5E
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for NT5E
Genomic location for NT5E
Band6q14.3Start85,449,584 bp[1]
End85,495,791 bp[1]
RNA expression pattern
PBB GE NT5E 203939 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002526
NM_001204813

NM_011851

RefSeq (protein)

NP_001191742
NP_002517

NP_035981

Location (UCSC)Chr 6: 85.45 – 85.5 MbChr 9: 88.33 – 88.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] CD73 commonly serves to convert AMP to adenosine.

Function[edit]

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.[6] 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.[7][8][9]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135318 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032420 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ "Entrez Gene: NT5E 5'-nucleotidase, ecto (CD73)". 
  7. ^ 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 3049958Freely accessible. PMID 21288095. 
  8. ^ 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 1030367Freely accessible. PMID 13149051. 
  9. ^ Online Mendelian Inheritance in Man (OMIM) 211800

Further reading[edit]

External links[edit]

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