TYMP (gene)

TYMP is a gene that encodes for the enzyme thymidine phosphorylase.^[5][6] The TYMP gene is also known as ECGF1 (endothelial cell growth factor 1, platelet-derived) and MNGIE due to its role in MNGIE syndrome.^[7]

TYMP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UOU, 2J0F, 2WK5, 2WK6
Identifiers
Aliases	TYMP, thymidine phosphorylase, ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF
External IDs	OMIM: 131222; MGI: 1920212; HomoloGene: 1474; GeneCards: TYMP; OMA:TYMP - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 50,525,752 bp[1] End 50,530,032 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 E3|15 44.86 cM Start 89,256,134 bp[2] End 89,261,242 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube granulocyte monocyte right lung upper lobe of left lung olfactory zone of nasal mucosa spleen apex of heart blood right lobe of liver Top expressed in liver jejunum colon duodenum spermatocyte vagina spermatid testicle proximal tubule lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity glycosyltransferase activity pyrimidine-nucleoside phosphorylase activity growth factor activity pentosyltransferase activity 1,4-alpha-oligoglucan phosphorylase activity thymidine phosphorylase activity protein homodimerization activity Cellular component cytosol Biological process cell differentiation pyrimidine nucleoside salvage pyrimidine nucleoside catabolic process multicellular organism development chemotaxis angiogenesis metabolism pyrimidine nucleobase metabolic process mitochondrial genome maintenance pyrimidine nucleoside metabolic process regulation of myelination regulation of transmission of nerve impulse regulation of gastric motility regulation of signaling receptor activity signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1890 72962 Ensembl ENSG00000025708 ENSMUSG00000022615 UniProt P19971 Q99N42 RefSeq (mRNA) NM_001953 NM_001113755 NM_001113756 NM_001257988 NM_001257989 NM_138302 NM_028405 RefSeq (protein) NP_001107227 NP_001107228 NP_001244917 NP_001244918 NP_001944 NP_612175 Location (UCSC) Chr 22: 50.53 – 50.53 Mb Chr 15: 89.26 – 89.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Structure

The TYMP gene is located on chromosome 22 in humans and contains 10 exons spanning more than 4.3 kb.

Function

TYMP encodes for the enzyme thymidine phosphorylase. TYMP and thymidine phosphorylase are associated with angiogenesis, growth of endothelial cells, and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Thymidine phosphorylase is angiogenic growth factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. Thymidine phosphorylase has a highly restricted target cell specificity acting only on endothelial cells, hence its alternative name of ECGF1. Because it limits glial cell proliferation, thymidine phosphorylase is also known as gliostatin. Thymidine phosphorylase activity in leukocytes from mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients was less than 5 percent of controls, indicating that loss-of-function mutations in TYMP cause MNGIE.^[8]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Fluorouracil (5-FU) Activity edit]]

Fluorouracil (5-FU) Activity edit

1. The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".