Endometriosis Knowledgebase

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Gene id

1890

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

OMIM

131222

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: 49,955

Sequence

MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAML
MAIRLRGMDLEETSVLTQALAQSGQQLEWPEAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGH
TGGTLDKLESIPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASILSKKLVE
GLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPP
DLRDLVTTLGGALLWLSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRA
REQEELLAPADGTVELVRALPLALVLHELGAGRSRAGEPLRLGVGAELLVDVGQRLRRGTPWLRVHRDGPALSGP
QSRALQEALVLSDRAPFAAPSPFAELVLPPQQ

Structural information

Interpro:	IPR000312 IPR017459 IPR013102 IPR018090 IPR017872 IPR000053
Prosite:	PS00647
Pfam:	PF02885 PF00591 PF07831
PDB:	1UOU 2J0F 2WK5 2WK6
PDBsum:	1UOU 2J0F 2WK5 2WK6
STRING:	ENSP00000252029;

Other Databases

GeneCards: TYMP; Malacards: TYMP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000002	mitochondrial genome main tenance	TAS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0004645	phosphorylase activity	IBA	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	TAS	molecular_function
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006206	pyrimidine nucleobase met abolic process	IEA	biological_process
GO:0006220	pyrimidine nucleotide met abolic process	TAS	biological_process
GO:0006260	DNA replication	TAS	biological_process
GO:0006935	chemotaxis	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0009032	thymidine phosphorylase a ctivity	IEA	molecular_function
GO:0016154	pyrimidine-nucleoside pho sphorylase activity	IEA	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0030154	cell differentiation	IEA	biological_process
GO:0043097	pyrimidine nucleoside sal vage	TAS	biological_process
GO:0046135	pyrimidine nucleoside cat abolic process	TAS	biological_process
GO:0000002	mitochondrial genome main tenance	TAS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0004645	phosphorylase activity	IEA	molecular_function
GO:0004645	phosphorylase activity	IBA	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	TAS	molecular_function
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006206	pyrimidine nucleobase met abolic process	IEA	biological_process
GO:0006213	pyrimidine nucleoside met abolic process	IEA	biological_process
GO:0006220	pyrimidine nucleotide met abolic process	TAS	biological_process
GO:0006260	DNA replication	TAS	biological_process
GO:0006935	chemotaxis	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008152	metabolic process	IEA	biological_process
GO:0009032	thymidine phosphorylase a ctivity	IEA	molecular_function
GO:0009032	thymidine phosphorylase a ctivity	TAS	molecular_function
GO:0016154	pyrimidine-nucleoside pho sphorylase activity	IEA	molecular_function
GO:0016740	transferase activity	IEA	molecular_function
GO:0016757	transferase activity, tra nsferring glycosyl groups	IEA	molecular_function
GO:0016757	transferase activity, tra nsferring glycosyl groups	IEA	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	IEA	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0030154	cell differentiation	IEA	biological_process
GO:0043097	pyrimidine nucleoside sal vage	TAS	biological_process
GO:0046135	pyrimidine nucleoside cat abolic process	TAS	biological_process
GO:0000002	mitochondrial genome main tenance	TAS	biological_process
GO:0004645	phosphorylase activity	IBA	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	TAS	molecular_function
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006220	pyrimidine nucleotide met abolic process	TAS	biological_process
GO:0006260	DNA replication	TAS	biological_process
GO:0009032	thymidine phosphorylase a ctivity	TAS	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	EXP	molecular_function
GO:0043097	pyrimidine nucleoside sal vage	TAS	biological_process
GO:0046135	pyrimidine nucleoside cat abolic process	TAS	biological_process

KEGG pathways

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

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis (ALS)	PMID: 18608101
Diabetes	PMID: 18955007
Endometriosis	PMID: 24188612
Endometriosis	INFBASE24188612
Ovarian endometriosis	INFBASE9920107
Mitochondrial DNA depletion syndrome	KEGG: H00469
Mitochondrial neurogastrointestinal encephalomyopathy	KEGG: H01390
Ovarian endometriosis	PMID: 9920107

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24188612	Endometrio sis			32 (18 with end ometriosis, 14 controls)		AKT1 TYMP JAG1 LAMA5 TIMP-1	Show abstract
9920107	Endometrio sis (Ovari an)					PD-ECGF	Show abstract