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UniProt functional annotation for P19971 | ||
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| UniProt code: P19971. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
May 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}. |
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| Function: | |
Catalyzes 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}. |
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| Catalytic activity: | |
Reaction=phosphate + thymidine = 2-deoxy-alpha-D-ribose 1-phosphate + thymine; Xref=Rhea:RHEA:16037, ChEBI:CHEBI:17748, ChEBI:CHEBI:17821, ChEBI:CHEBI:43474, ChEBI:CHEBI:57259; EC=2.4.2.4; |
| Pathway: | |
Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2. |
| Subunit: | |
Homodimer. {ECO:0000269|PubMed:14725767, ECO:0000269|PubMed:16803458, ECO:0000269|PubMed:19555658}. |
| Disease: | |
Mitochondrial 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 variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.