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FLASH GENE

Symbol

TYMP

contributors: npt - updated : 16-10-2010

HGNC name	thymidine phosphorylase
HGNC id	3148

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MNGIE mitochondrial neurogastrointestinal encephalopathy syndrome
Location	22q13.33      Physical location : 50.964.183 - 50.968.514
Synonym name	gliostatin
	thymidine phosphorylase
	endothelial cell growth factor 1 (platelet-derived)
Synonym symbol(s)	TP, PDECGF, PDECGF, ECGF1, MNGIE, TdRPase, hPD-ECGF
EC.number	2.4.2.4

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	the promoter lacks a TATA box and a CCAAT box, six copies of potential Sp1-binding sites are clustered upstream of the transcription start sites
STRUCTURE	4.33 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D22S922 - D22S1169 - TYMP - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001113755 10 splicing 1671 NP_001107227 49 482 - - NM_001113756 10 splicing 1587 NP_001107228 49 482 - - NM_001953 10 splicing 1659 NP_001944 49 482 - -

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous brain         Reproductive female system placenta     highly   female system uterus cervix   highly Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two glycosyltransferaqe domains
	pyrimidine nucleoside phosphorylase C-terminal domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to TYMP, Pan troglodytes
	ortholog to Tymp, Rattus norvegicus
	ortholog to Tymp, Mus musculus

Homologene

FAMILY

thymidine/pyrimidine-nucleoside phosphorylase family

CATEGORY

signaling cytokine growth factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic

basic FUNCTION	an angiogenic factor which stimulates endothelial cell growth in vitro and promotes angiogenesis in vivo
	has thymidine phosphorylase activity
	regulates intracellular and plasma thymidine levels
	involved in nucleotide salvage angiogenesis through release of the endothelial cell chemoattractant 2-deoxy-D-ribose
	may play an important role in tumor progression by preventing hypoxia-induced apoptosis

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	catalyzes the reversible phosphorolysis of thymidine

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

strong binding of HNRNPH1/HNRNPH2 to TYMP pre-mRNA, hence implicating them in TYMP splicing

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MNGIE

Susceptibility

to thymidine phosphorylase enhances the invasion of tumor cells through the induction of invasion-related genes

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mitochondrial disease     administration of a single dose of erythrocyte-encapsulated thymidine phosphorylase to a severely affected individual resulted in partial reductions of thymidine and deoxyuridine in blood and urine

ANIMAL & CELL MODELS

	mice deficient in the Tymp gene have no thymidine phosphorylase activity (TP) in liver. Tymp-uridine phosphorylase double-knockout mice have no TP activities and higher thymidine level in plasma and display brain lesionsand axonal edema
	thymidine phosphorylase (TP) and uridine phosphorylase (UP) double knockout mice have evere TP deficiency, increased thymidine and deoxyuridine in tissues, elevated mitochondrial deoxythymidine triphosphate, partial depletion of mtDNA in brain, deficiencies of respiratory chain complexes and encephalopathy