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Aliases for TYMP Gene

Aliases for TYMP Gene

  • Thymidine Phosphorylase 2 3
  • Gliostatin 2 3 4
  • ECGF1 3 4 6
  • EC 2.4.2.4 4 64
  • TdRPase 3 4
  • MEDPS1 3 6
  • MTDPS1 3 6
  • PDECGF 3 6
  • MNGIE 3 6
  • TP 3 4
  • Endothelial Cell Growth Factor 1 (Platelet-Derived) 2
  • Platelet-Derived Endothelial Cell Growth Factor 4
  • HPD-ECGF 3
  • EC 2.4.2 64
  • PD-ECGF 4
  • ECGF 3

External Ids for TYMP Gene

Previous Symbols for TYMP Gene

  • MNGIE
  • ECGF1

Summaries for TYMP Gene

Entrez Gene Summary for TYMP Gene

  • 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]

GeneCards Summary for TYMP Gene

TYMP (Thymidine Phosphorylase) is a Protein Coding gene. Diseases associated with TYMP include mitochondrial dna depletion syndrome 1 and nodular malignant melanoma. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include growth factor activity and phosphorylase activity.

UniProtKB/Swiss-Prot for TYMP Gene

  • 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.

  • 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.

Gene Wiki entry for TYMP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYMP Gene

Genomics for TYMP Gene

Genomic Location for TYMP Gene

Start:
50,525,752 bp from pter
End:
50,530,085 bp from pter
Size:
4,334 bases
Orientation:
Minus strand

Genomic View for TYMP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TYMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TYMP Gene

Regulatory Elements for TYMP Gene

Transcription factor binding sites by QIAGEN in the TYMP gene promoter:

Proteins for TYMP Gene

  • Protein details for TYMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19971-TYPH_HUMAN
    Recommended name:
    Thymidine phosphorylase
    Protein Accession:
    P19971
    Secondary Accessions:
    • A8MW15
    • H9KVA0
    • Q13390
    • Q8WVB7

    Protein attributes for TYMP Gene

    Size:
    482 amino acids
    Molecular mass:
    49955 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for TYMP Gene

    Alternative splice isoforms for TYMP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TYMP Gene

Proteomics data for TYMP Gene at MOPED

Selected DME Specific Peptides for TYMP Gene

Post-translational modifications for TYMP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TYMP Gene

Domains for TYMP Gene

UniProtKB/Swiss-Prot:

TYPH_HUMAN
Family:
  • Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family.:
    • P19971
genes like me logo Genes that share domains with TYMP: view

No data available for Gene Families for TYMP Gene

Function for TYMP Gene

Molecular function for TYMP Gene

UniProtKB/Swiss-Prot CatalyticActivity: Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TYMP Gene

Gene Ontology (GO) - Molecular Function for TYMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity IEA --
GO:0005161 platelet-derived growth factor receptor binding TAS 2005900
GO:0008083 growth factor activity IEA --
GO:0009032 thymidine phosphorylase activity IEA --
GO:0016154 pyrimidine-nucleoside phosphorylase activity IEA --
genes like me logo Genes that share ontologies with TYMP: view
genes like me logo Genes that share phenotypes with TYMP: view

Animal Models for TYMP Gene

MGI Knock Outs for TYMP:

miRNA for TYMP Gene

miRTarBase miRNAs that target TYMP

No data available for Transcription Factor Targeting and HOMER Transcription for TYMP Gene

Localization for TYMP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TYMP Gene COMPARTMENTS Subcellular localization image for TYMP gene
Compartment Confidence
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TYMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TYMP: view

Pathways for TYMP Gene

genes like me logo Genes that share pathways with TYMP: view

UniProtKB/Swiss-Prot P19971-TYPH_HUMAN

  • Pathway: Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2

Interacting Proteins for TYMP Gene

Gene Ontology (GO) - Biological Process for TYMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance TAS 9924029
GO:0001525 angiogenesis IEA --
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006213 pyrimidine nucleoside metabolic process --
GO:0006220 pyrimidine nucleotide metabolic process TAS 9924029
genes like me logo Genes that share ontologies with TYMP: view

Compounds for TYMP Gene

(10) HMDB Compounds for TYMP Gene

Compound Synonyms Cas Number PubMed IDs
Adenine
  • 1,6-Dihydro-6-iminopurine
73-24-5
Deoxyadenosine monophosphate
  • 2'-Deoxy-5'-adenylate
653-63-4
Deoxyguanosine
  • 2'-Deoxyguanosine
961-07-9
Deoxyinosine
  • 2'-Deoxyinosine
890-38-0
Deoxyribose 1-phosphate
  • 2-deoxy-D-ribose-1-phosphate
17210-42-3

(7) Drugbank Compounds for TYMP Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
5-Chloro-6-[(2-Iminopyrrolidin-1-Yl)Methyl]Pyrimidine-2,4(1h,3h)-Dione
target
5-Chloro-6-[(2-Iminopyrrolidin-1-Yl)Methyl]Pyrimidine-2,4(1h,3h)-Dione
enzyme
Capecitabine
154361-50-9 enzyme substrate
Cidofovir
  • CDV
113852-37-2 enzyme inhibitor
Floxuridine
  • 5 Fluorodeoxyuridine
50-91-9 enzyme substrate

(99) Novoseek inferred chemical compound relationships for TYMP Gene

Compound -log(P) Hits PubMed IDs
thymidine 95.9 353
5-deoxy-5-fluorouridine 94.8 127
deoxyribose-1-phosphate 93.5 25
capecitabine 92.6 165
thymidylate 90 128
genes like me logo Genes that share compounds with TYMP: view

Transcripts for TYMP Gene

Unigene Clusters for TYMP Gene

Thymidine phosphorylase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TYMP Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - -
SP10: - - -
SP11: - -
SP12: - - -
SP13: - - - - -
SP14: - - - - - - - - - - - - - -
SP15: - - -
SP16: - - - -
SP17: - - - - -
SP18:
SP19: -
SP20:
SP21:

ExUns: 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: - -

Relevant External Links for TYMP Gene

GeneLoc Exon Structure for
TYMP
ECgene alternative splicing isoforms for
TYMP

Expression for TYMP Gene

mRNA expression in normal human tissues for TYMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TYMP Gene

This gene is overexpressed in Whole Blood (13.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TYMP Gene

SOURCE GeneReport for Unigene cluster for TYMP Gene Hs.180903

genes like me logo Genes that share expressions with TYMP: view

Orthologs for TYMP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYMP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TYMP 36
  • 98.95 (n)
  • 99.37 (a)
TYMP 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tymp 36
  • 78.25 (n)
  • 81.76 (a)
Tymp 16
Tymp 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TYMP 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 62 (a)
OneToMany
-- 37
  • 6 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tymp 36
  • 78.51 (n)
  • 82.24 (a)
lizard
(Anolis carolinensis)
Reptilia TYMP 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tymp 36
  • 56.56 (n)
  • 57.47 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10042 36
Species with no ortholog for TYMP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TYMP Gene

ENSEMBL:
Gene Tree for TYMP (if available)
TreeFam:
Gene Tree for TYMP (if available)

Paralogs for TYMP Gene

No data available for Paralogs for TYMP Gene

Variants for TYMP Gene

Sequence variations from dbSNP and Humsavar for TYMP Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs131800 -- 50,528,840(-) GACTT(C/T)CCTCC intron-variant
rs470119 -- 50,528,485(-) TCATT(A/G)ATCCA intron-variant
rs762559 -- 50,528,468(-) ATGAT(C/G)CAGAC intron-variant
rs28931613 Pathogenic 50,529,579(-) GAAGC(A/G)AGACG missense, reference
rs74624637 Benign 50,529,483(+) CCAAC(C/T)CTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TYMP Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv834238 CNV Loss 17160897
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
dgv5064n71 CNV Loss 21882294
dgv5065n71 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv914554 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914556 CNV Loss 21882294

Relevant External Links for TYMP Gene

HapMap Linkage Disequilibrium report
TYMP
Human Gene Mutation Database (HGMD)
TYMP

Disorders for TYMP Gene

(1) OMIM Diseases for TYMP Gene (131222)

UniProtKB/Swiss-Prot

TYPH_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(96) Novoseek inferred disease relationships for TYMP Gene

Disease -log(P) Hits PubMed IDs
mngie 95.3 72
tumors 71.4 323
colorectal cancer 69.4 103
progressive external ophthalmoplegia 67.9 1
gastric cancer 63.3 58

Relevant External Links for TYMP

GeneTests
TYMP
GeneReviews
TYMP
Genetic Association Database (GAD)
TYMP
Human Genome Epidemiology (HuGE) Navigator
TYMP
genes like me logo Genes that share disorders with TYMP: view

Publications for TYMP Gene

  1. Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. (PMID: 1590793) Usuki K. … Heldin C.-H. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 23
  2. Altered thymidine metabolism due to defects of thymidine phosphorylase. (PMID: 11733540) Spinazzola A. … Hirano M. (J. Biol. Chem. 2002) 2 3 23
  3. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. (PMID: 9924029) Nishino I. … Hirano M. (Science 1999) 3 4 23
  4. Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. (PMID: 1400349) Asai K. … Kato T. (J. Biol. Chem. 1992) 3 4 23
  5. Structural basis for non-competitive product inhibition in human thymidine phosphorylase: implications for drug design. (PMID: 16803458) El Omari K. … Stammers D.K. (Biochem. J. 2006) 3 4 23

Products for TYMP Gene

Sources for TYMP Gene

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