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Description for Protein NT5C3

5'-nucleotidase, cytosolic III
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 3/1)
(membrane: 1; platelet: 7; secretome: 4)
Summary:
The pyrimidine 5'-nucleotidase (P5N) includes type I and type II isozymes, which catalyze the dephosphorylation of the pyrimidine 5'-monophosphates UMP and CMP to the corresponding nucleosides. This gene encodes the type I P5N isozyme and a gene on chromosome 17 encodes the type II P5N isozyme. Both genes are members of the nucleotidase gene family. Mutations in this gene are the main cause of P5N deficiency, which results in an autosomal recessive hemolytic anemia. It was reported that this gene had two pseudogenes on chromosomes 4 and 7, respectively, but the pseudogene on chromosome 7 is not verified. Alternatively spliced non-coding and coding transcript variants have been found for this gene. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.1.3.5
KEGG - Orthology:
K01081
KEGG - Pathway(s):
hsa00230; hsa00240; hsa00760; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Nucleotidase, 5 prime, cytosolic 3; Uridine 5 prime monophosphate hydrolase 1; UMPH1; P5N1; EC 3.1.3.5; HSPC233; cN-III; UMPH; PSN1; MGC27337; MGC87109; MGC87828; PN-I; 5 prime nucleotidase cytosolic III isoform 2; 5 prime nucleotidase cytosolic III isoform 1
Approved Symbol:
NT5C3
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Hemolytic anemia due to umph1 deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05871 Entrez Gene ID: 51251 OMIM ID: 606224 Swissprot Accession: B8ZZC4; Q9H0P0;