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Gene : NT5C3A Homo sapiens

Name  ? 5'-nucleotidase, cytosolic IIIA Cytological Location  7p14.3
Brief Description  5'-nucleotidase, cytosolic IIIA
description  This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
  • synonyms:
  • p36,
  • HGNC:17820,
  • lupin,
  • NT5C3,
  • P5'N-1,
  • AF312735,
  • POMP,
  • POMP,
  • p36,
  • NT5C3A,
  • cN-III,
  • OTTHUMG00000152983,
  • NM_016489,
  • cN-III,
  • UMPH,
  • UMPH1,
  • PSN1,
  • P5'N-1,
  • PN-I,
  • UMPH,
  • 5'-nucleotidase, cytosolic III,
  • hUMP1,
  • NT5C3,
  • hUMP1,
  • P5N-1,
  • UMPH1,
  • PSN1,
  • PN-I,
  • uc003tdj.5
  • identifiers:
  • 51251,
  • ENSG00000122643,
  • NT5C3A

Genome feature

Region: gene ? Length: 48709  
Location: 7:33014113-33062821 reverse strand Cyto location: 7p14.3


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results