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MGP000901

UniProt Annotations

Entry Information
Gene Namethymidine phosphorylase
Protein EntryTYPH_HUMAN
UniProt IDP19971
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P19971-1; Sequence=Displayed; Name=2; IsoId=P19971-2; Sequence=VSP_045556; Note=No experimental confirmation available.;
Catalytic ActivityThymidine + phosphate = thymine + 2-deoxy- alpha-D-ribose 1-phosphate.
DiseaseMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. {ECO:0000269|PubMed:12177387, ECO:0000269|PubMed:9924029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. {ECO:0000269|PubMed:1590793}.
FunctionMay have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro. {ECO:0000269|PubMed:1590793}.
PathwayPyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2.
SimilarityBelongs to the thymidine/pyrimidine-nucleoside phosphorylase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:14725767, ECO:0000269|PubMed:16803458, ECO:0000269|PubMed:19555658}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TYMPID40397ch22q13.html";
Web ResourceName=R&D Systems' cytokine mini-reviews: PD-ECGF; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1965";
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