• Gene id: 1890

Gene Summary

• Gene Symbol: TYMP   Gene   UCSC   Ensembl
• Aliases: ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF
• Gene name: thymidine phosphorylase
• Alternate names: thymidine phosphorylase, gliostatin, tdRPase,
• Gene location: 22q13.33 (50530084: 50525751)     Exons: 10     NC_000022.11
• Gene summary(Entrez): This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene ha
• OMIM: 606269

Protein Summary

• Protein general information: P19971  
  • Name: Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliostatin) (Platelet derived endothelial cell growth factor) (PD ECGF) (TdRPase)
  • Length: 482  
  • Mass: 49955
• Sequence:

  MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAML
  MAIRLRGMDLEETSVLTQALAQSGQQLEWPEAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGH
  TGGTLDKLESIPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASILSKKLVE
  GLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPP
  DLRDLVTTLGGALLWLSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRA
  REQEELLAPADGTVELVRALPLALVLHELGAGRSRAGEPLRLGVGAELLVDVGQRLRRGTPWLRVHRDGPALSGP
  QSRALQEALVLSDRAPFAAPSPFAELVLPPQQ

• Structural information:
  • Interpro: IPR000312  IPR017459  IPR036320  IPR035902  IPR036566   IPR013102  IPR018090  IPR017872  IPR000053  
  • Prosite: PS00647
  • PDB: 1UOU 2J0F 2WK5 2WK6
  • PDBsum: 1UOU 2J0F 2WK5 2WK6
  • STRING: ENSP00000379038
• Other Databases: GeneCards:  TYMP  Malacards:  TYMP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0009032	thymidine phosphorylase activity	IBA	molecular function
GO:0004645	1,4-alpha-oligoglucan phosphorylase activity	IEA	molecular function
GO:0006206	pyrimidine nucleobase metabolic process	IEA	biological process
GO:0006213	pyrimidine nucleoside metabolic process	IEA	biological process
GO:0016154	pyrimidine-nucleoside phosphorylase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016763	transferase activity, transferring pentosyl groups	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0006935	chemotaxis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0009032	thymidine phosphorylase activity	IEA	molecular function
GO:0043097	pyrimidine nucleoside salvage	TAS	biological process
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0006213	pyrimidine nucleoside metabolic process	IDA	biological process
GO:0006213	pyrimidine nucleoside metabolic process	IMP	biological process
GO:1905333	regulation of gastric motility	IMP	biological process
GO:0051969	regulation of transmission of nerve impulse	IMP	biological process
GO:0009032	thymidine phosphorylase activity	IMP	molecular function
GO:0000002	mitochondrial genome maintenance	IMP	biological process
GO:0031641	regulation of myelination	IMP	biological process
GO:0009032	thymidine phosphorylase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa05219	Bladder cancer

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial neurogastrointestinal encephalomyopathy	KEGG:H01390
Ductal carcinoma in situ	PMID:9306962
urinary bladder cancer	PMID:16937303
Endometrial cancer	PMID:18348659
pancreatic cancer	PMID:19671868
Ovarian cancer	PMID:15262124
Ovarian cancer	PMID:15628771
Transitional cell carcinoma	PMID:15841086
Teratoma	PMID:10886088
pancreatic ductal carcinoma	PMID:19760965
Cervical squamous cell carcinoma	PMID:16803522
lung non-small cell carcinoma	PMID:19671868
seminoma	PMID:10886088
renal cell carcinoma	PMID:12614261
renal cell carcinoma	PMID:16861722
common bile duct neoplasm	PMID:10760693
gallbladder carcinoma	PMID:18946757
Mitochondrial encephalomyopathy	PMID:9924029
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq