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TYMP Gene

protein-coding   GIFtS: 65
GCID: GC22M050964

Thymidine Phosphorylase

(Previous name: endothelial cell growth factor 1 (platelet-derived))
(Previous symbols: MNGIE, ECGF1)
  See TYMP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Thymidine Phosphorylase1 2     Endothelial Cell Growth Factor 1 (Platelet-Derived)1
ECGF11 2 3 5     ECGF2
MNGIE1 2 5     hPD-ECGF2
gliostatin1 2     tdRPase2
TP2 3     Gliostatin3
EC 2.4.2.43 8     PD-ECGF3
MEDPS12 5     TdRPase3
MTDPS12 5     Platelet-Derived Endothelial Cell Growth Factor3
PDECGF2 5     EC 2.4.28

External Ids:    HGNC: 31481   Entrez Gene: 18902   Ensembl: ENSG000000257087   OMIM: 1312225   UniProtKB: P199713   

Export aliases for TYMP gene to outside databases

Previous GC identifers: GC22M049312 GC22M033855


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 neurogastrointestinal encephalopathy disease, and mitochondrial dna depletion syndrome 1. GO annotations related to this gene include growth factor activity and phosphorylase activity.

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
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
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

Gene Wiki entry for TYMP (ECGF1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011526.8  
Regulatory elements:
   Regulatory transcription factor binding sites in the TYMP gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TYMP promoter sequence
   Search Chromatin IP Primers for TYMP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TYMP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13

TYMP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TYMP gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050964:  view genomic region     (about GC identifiers)

Start:
50,964,181 bp from pter      End:
50,968,514 bp from pter
Size:
4,334 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971 (See protein sequence)
Recommended Name: Thymidine phosphorylase precursor  
Size: 482 amino acids; 49955 Da
Subunit: Homodimer
4 PDB 3D structures from and Proteopedia for TYMP:
1UOU (3D)        2J0F (3D)        2WK5 (3D)        2WK6 (3D)    
Secondary accessions: A8MW15 H9KVA0 Q13390 Q8WVB7
Alternative splicing: 2 isoforms:  P19971-1   P19971-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYMP: NX_P19971

Explore proteomics data for TYMP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TYMP (P19971) (see all 6)
     RDVTATV  DKHSTGG  LITASIL  SGRGLGHTGGT 


    See TYMP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001107227.1  NP_001107228.1  NP_001244917.1  NP_001244918.1  NP_001944.1  

    ENSEMBL proteins: 
     ENSP00000379037   ENSP00000379038   ENSP00000252029   ENSP00000379036   ENSP00000395875  
    Reactome Protein details: P19971

    TYMP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TYMP (PD-ECGF/Thymidine Phosphorylase)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TYMP
    OriGene Protein Over-expression Lysate for TYMP
    OriGene MassSpec for TYMP
    OriGene Custom Protein Services for TYMP
    GenScript Custom Purified and Recombinant Proteins Services for TYMP
    Novus Biologicals TYMP Proteins
    Novus Biologicals TYMP Lysate
    Sino Biological Recombinant Protein for TYMP
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TYMP
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TYMP 

     
    antibodies-online proteins for TYMP (19 products) 

     
    antibodies-online peptides for TYMP

    TYMP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TYMP (PD-ECGF/Thymidine Phosphorylase)
    Cell Signaling Technology (CST) Antibodies for TYMP  (ECGF1)
    OriGene Antibodies for TYMP
    OriGene Custom Antibody Services for TYMP
    Novus Biologicals TYMP Antibodies
    Abcam antibodies for TYMP
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for TYMP
    antibodies-online antibodies for TYMP (69 products) 

    TYMP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TYMP
    R&D Systems ELISAs for TYMP (PD-ECGF/Thymidine Phosphorylase)         (see all)
    GenScript Custom Assay Services for TYMP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for TYMP 
    antibodies-online kits for TYMP (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR018090 Pyrmidine_PPas_bac/euk
     IPR017459 Glycosyl_Trfase_fam3_N_dom
     IPR017872 Pyrmidine_PPase_CS
     IPR000053 Pyrmidine_PPase
     IPR013102 PYNP_C

    Graphical View of Domain Structure for InterPro Entry P19971

    ProtoNet protein and cluster: P19971

    1 Blocks protein domain: IPB000053 Thymidine/pyrimidine-nucleoside phosphorylase

    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
    Similarity: Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family


    Find genes that share domains with TYMP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TYPH_HUMAN, P19971
    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
    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
    Catalytic activity: Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate

         Enzyme Numbers (IUBMB): EC 2.4.2.41 2 EC 2.4.22

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004645phosphorylase activity IEA--
    GO:0005161platelet-derived growth factor receptor binding TAS2005900
    GO:0008083growth factor activity IEA--
    GO:0009032thymidine phosphorylase activity IEA--
    GO:0016154pyrimidine-nucleoside phosphorylase activity IEA--
         
    Find genes that share ontologies with TYMP           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TYMP:
     Decreased number of cells in m 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tymp):
     cellular  homeostasis/metabolism  immune system  nervous system  skeleton 

    Find genes that share phenotypes with TYMP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TYMP: Tymptm1Mihi Tymptm1Akiy

       genOway: Develop your customized and physiologically relevant rodent model for TYMP

    miRNA
    Products:
        
    miRTarBase miRNAs that target TYMP:
    hsa-mir-92a-3p (MIRT048951)

    Block miRNA regulation of human, mouse, rat TYMP using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TYMP
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TYMP
    Predesigned siRNA for gene silencing in human, mouse, rat TYMP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TYMP

    Clone
    Products:
         
    OriGene clones in human, mouse for TYMP (see all 14)
    OriGene ORF clones in mouse, rat for TYMP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TYMP (NM_001113755)
    Sino Biological Human cDNA Clone for TYMP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TYMP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TYMP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TYMP
    Browse ESI BIO Cell Lines and PureStem Progenitors for TYMP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TYMP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with TYMP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TYMP About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Pyrimidine salvage reactions0.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    Pyrimidine catabolism0.00
    Pyrimidine metabolism0.33
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    4Purine metabolism (KEGG)
    Pyrimidine metabolism0.38
    5Glucuronidation
    Drug metabolism - other enzymes0.36


    Find genes that share SuperPaths with TYMP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TYMP (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    3 Cell Signaling Technology (CST) Pathways for TYMP
        Chromatin Regulation / Acetylation
    Apoptosis and Autophagy
    Angiogenesis

    2 BioSystems Pathways for TYMP
        Fluoropyrimidine Activity
    pyrimidine deoxyribonucleosides degradation


    2 Reactome Pathways for TYMP
        Pyrimidine catabolism
    Pyrimidine salvage reactions

    1 PharmGKB Pathway for TYMP
        Fluoropyrimidine Pathway, Pharmacokinetics

    4 Kegg Pathways  (Kegg details for TYMP):
        Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways
    Bladder cancer

    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
    Pathway: Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYMP (see all 6): 

              Growth Factors in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Angiogenesis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TYMP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for TYMP (ENSP000002520294) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDAENSP000003642124STRING: ENSP00000364212
    CYP2A13ENSP000003326794STRING: ENSP00000332679
    CYP2A6ENSP000003011414STRING: ENSP00000301141
    DPYDENSP000003592114STRING: ENSP00000359211
    NT5CENSP000002455524STRING: ENSP00000245552
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance TAS9924029
    GO:0001525angiogenesis IEA--
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006213pyrimidine nucleoside metabolic process ----
    GO:0006220pyrimidine nucleotide metabolic process TAS9924029

    Find genes that share ontologies with TYMP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TYMP (TYPH)

    10 HMDB Compounds for TYMP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--
    Deoxyinosine2'-Deoxyinosine (see all 10)890-38-0--
    Deoxyribose 1-phosphate2-deoxy-D-ribose-1-phosphate (see all 14)17210-42-3--
    Deoxyuridine1-(2-Deoxy-D-erythro-pentofuranosyl)uracil (see all 12)951-78-0--
    GuanineGUN (see all 26)73-40-5--
    Thymidine1-(2-Deoxy-b-D-erythro-pentofuranosyl)-5-methyl-2,4(1H,3H)-pyrimidinedione (see all 17)50-89-5--
    Thymine2,4-Dihydroxy-5-methylpyrimidine (see all 8)65-71-4--
    Uracil2,4-Dihydroxypyrimidine (see all 8)66-22-8--

    6 DrugBank Compounds for TYMP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Capecitabine-- 154361-50-9enzymesubstrate12481438 16926630 15763604 11291832 12866042 15132128 10630095 11587492 10755317 15134221 11081570
    Trifluridine-- 70-00-8enzymesubstrate18798063 15571283 17179993 14719072 6010427 16902987
    Floxuridine5 Fluorodeoxyuridine (see all 10)50-91-9enzymesubstrate18652477 14069549
    CidofovirCDV (see all 2)113852-37-2enzymeinhibitor19844936
    Fluorouracil5-Fluorouracil (see all 6)51-21-8enzymesubstrate21332317
    5-Chloro-6-[(2-Iminopyrrolidin-1-Yl)Methyl]Pyrimidine-2,4(1h,3h)-Dione-- --target----
    enzyme----

    Selected Novoseek inferred chemical compound relationships for TYMP gene (see all 99)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymidine 95.9 2344 12639965 (9), 12397781 (8), 17993734 (7), 16721548 (7) (see all 99)
    5'-deoxy-5-fluorouridine 94.8 218 15201953 (5), 12820419 (5), 12020396 (5), 15604581 (4) (see all 75)
    deoxyribose-1-phosphate 93.5 39 8137250 (2), 12543812 (2), 1850393 (1), 10796062 (1) (see all 23)
    capecitabine 92.6 293 15917420 (6), 18765464 (6), 19117293 (6), 15132128 (5) (see all 99)
    thymidylate 90 241 15538739 (2), 15777505 (2), 17047489 (2), 19051292 (2) (see all 99)
    5fluorouracil 87.6 557 10412941 (6), 20372793 (6), 7642571 (5), 9796967 (5) (see all 99)
    pyrimidine nucleoside 83.4 21 7538895 (1), 10685502 (1), 11706522 (1), 2328255 (1) (see all 17)
    deoxyuridine 81 49 12646159 (2), 12813027 (2), 16971699 (2), 16178026 (2) (see all 22)
    trifluorothymidine 80.9 45 15711180 (3), 15140625 (3), 17441963 (2), 18555978 (2) (see all 13)
    orotic acid 77.7 45 17443278 (2), 18652704 (2), 17637543 (2), 17214322 (1) (see all 23)



    Find genes that share compounds with TYMP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TYMP gene (5 alternative transcripts): 
    NM_001113755.2  NM_001113756.2  NM_001257988.1  NM_001257989.1  NM_001953.4  

    Unigene Cluster for TYMP:

    Thymidine phosphorylase
    Hs.180903  [show with all ESTs]
    Unigene Representative Sequence: AK057214
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395680 ENST00000395681 ENST00000252029(uc003bmc.4 uc003bme.4 uc010hbd.3 uc003bmd.4 uc011arz.1)
    ENST00000487577(uc003bmb.4) ENST00000395678 ENST00000476284 ENST00000425169
    ENST00000487162
    miRNA
    Products:
         
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TYMP
    Clone
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    OriGene ORF clones in mouse, rat for TYMP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TYMP (NM_001113755)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TYMP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TYMP
    Primer
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    OriGene qPCR primer pairs and template standards for TYMP
    OriGene qSTAR qPCR primer pairs in human, mouse for TYMP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TYMP
      QuantiTect SYBR Green Assays in human, mouse, rat TYMP
      QuantiFast Probe-based Assays in human, mouse, rat TYMP

    Additional mRNA sequence: 

    AK057214.1 AK225269.1 AK298691.1 AK301194.1 AK314716.1 AL021683.1 BC018160.1 BC052211.2 
    BC102024.1 BC102025.1 M63193.1 

    Selected DOTS entries (see all 34):

    DT.453568  DT.100879963  DT.100879971  DT.95168904  DT.100839037  DT.40195389  DT.100879983  DT.92020249 
    DT.92419084  DT.95252736  DT.100879991  DT.120638056  DT.92455484  DT.100768232  DT.100879980  DT.120638104 
    DT.100766191  DT.100807874  DT.100879974  DT.100879975  DT.95252742  DT.100645925  DT.100762272  DT.100840422 

    Selected AceView cDNA sequences (see all 481):

    BM127080 CB216979 BM126814 BM709018 BM127130 BM727471 CA313581 AW014906 
    CB046997 CR610293 BU734727 CA392579 CR610057 BX280388 BQ447931 CR608523 
    CR600249 CA308094 BM837138 CR604852 AI990895 BF436372 CR598122 CR611811 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TYMP (see all 21)    About this scheme

    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:                    -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -     -     -   

    ExUns: 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11
    SP1:                                      -               
    SP2:                                      -               
    SP3:                                      -               
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for TYMP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TYMP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGCTTTCC
    TYMP Expression
    About this image


    TYMP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Spleen (Hematopoietic System)
    TYMP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TYMP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.180903
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TYMP (see all 6): 
              Growth Factors in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Angiogenesis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for TYMP gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tymp1 , 5 thymidine phosphorylase1, 5 78.25(n)1
    81.76(a)1
      15 (44.86 cM)5
    729621  NM_138302.11  NP_612175.11 
     893719315 
    lizard
    (Anolis carolinensis)
    Reptilia TYMP6
    thymidine phosphorylase
    57(a)
    1 ↔ 1
    GL343682.1(145355-169190)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tymp1 thymidine phosphorylase 56.56(n)
    57.47(a)
      100145512  NM_001126955.1  NP_001120427.1 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.100422 Oncorhynchus mykiss transcribed sequence with weak more 76.44(n)    CA348293.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for TYMP (see all 208)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0076454
    Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)4--see VAR_0076452 K R mis40--------
    VAR_0076464
    Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)4--see VAR_0076462 E A mis40--------
    VAR_0076444
    Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)4--see VAR_0076442 G S mis40--------
    VAR_0167774
    Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)4--see VAR_0167772 R Q mis40--------
    VAR_0076434
    Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)4--see VAR_0076432 G R mis40--------
    rs1219130391,2
    C,Fpathogenic134909038(-) CCACCG/ATGGAC 10 /M /V mis11Minor allele frequency- A:0.00NA 4552
    rs1219130371,2
    Cpathogenic134910018(-) TCAGCA/GGACGT 10 R G mis10--------
    rs289316131,2
    Cpathogenic134911003(-) GAAGCG/AAGACG 10 /Q /R mis1 ese31Minor allele frequency- A:0.00NA 2
    rs81363811,2
    C,A--34906694(+) CCGCGC/TGAGCG 5 -- ds50012Minor allele frequency- T:0.20NA WA 120
    rs744796131,2
    C,F--34906902(+) CCTCGC/TGGCGG 5 -- ds50012Minor allele frequency- T:0.13WA EA 238

    HapMap Linkage Disequilibrium report for TYMP (50964181 - 50968514 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TYMP (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915495CNV Loss21882294
    dgv5065n71CNV Loss21882294
    nsv834238CNV Loss17160897
    dgv5064n71CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    nsv471224CNV Loss18288195
    dgv5067n71CNV Loss21882294
    nsv914556CNV Loss21882294
    dgv5062n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TYMP
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TYMP
    DNA2.0 Custom Variant and Variant Library Synthesis for TYMP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 131222   
    OMIM disorders: 603041  
    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 16 diseases for TYMP:    
    About MalaCards
    mitochondrial neurogastrointestinal encephalopathy disease    mitochondrial dna depletion syndrome 1    nodular malignant melanoma    verrucous carcinoma
    encephalomyopathy    cervical squamous cell carcinoma    capillary hemangioma    pancreatic ductal carcinoma
    pulmonary vein stenosis    mitochondrial dna depletion syndrome    hemosiderosis    chronic progressive external ophthalmoplegia
    colon cancer    colorectal cancer    pancreatic cancer    breast cancer

    6 diseases from the University of Copenhagen DISEASES database for TYMP:
    Colorectal cancer     Carcinoma     Breast cancer     Chronic progressive external ophthalmoplegia
    Ophthalmoplegia     Ileus

    Find genes that share disorders with TYMP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TYMP gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mngie 95.3 106 14633909 (6), 16178026 (5), 11733540 (4), 17544574 (3) (see all 42)
    tumors 71.4 939 15289834 (8), 10741908 (6), 11268481 (6), 15706408 (6) (see all 99)
    colorectal cancer 69.4 141 15069545 (5), 12375032 (4), 17179731 (4), 10831266 (3) (see all 60)
    progressive external ophthalmoplegia 67.9 1 14557557 (1)
    gastric cancer 63.3 80 18922971 (4), 9516932 (3), 17923735 (3), 17143479 (3) (see all 38)
    metastasis 62.9 164 15254700 (5), 12027197 (3), 15546501 (3), 18613378 (3) (see all 87)
    cancer 60.7 338 17923735 (6), 17143479 (6), 15323351 (6), 12722680 (6) (see all 99)
    solid tumor 59.5 48 12543812 (2), 10741908 (1), 2167917 (1), 10630095 (1) (see all 30)
    neovascularization 58.2 21 9563652 (2), 7507805 (1), 9529017 (1), 10632327 (1) (see all 17)
    breast cancer metastatic 57.2 7 18441329 (1), 11432617 (1), 12454317 (1), 15114696 (1) (see all 5)

    GeneTests: TYMP
    GeneReviews: TYMP
    Genetic Association Database (GAD): TYMP
    Human Genome Epidemiology (HuGE) Navigator: TYMP (1 document)

    Export disorders for TYMP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TYMP gene, integrated from 10 sources (see all 1001):
    (articles sorted by number of sources associating them with TYMP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. (PubMed id 1590793)1, 2, 3, 9 Usuki K.... Heldin C.-H. (Biochem. Biophys. Res. Commun. 1992)
    2. Altered thymidine metabolism due to defects of thymidine phosphorylase. (PubMed id 11733540)1, 3, 9 Spinazzola A....Hirano M. (J. Biol. Chem. 2002)
    3. Thymidine kinase and thymidine phosphorylase level as the main predictive parameter for sensitivity to TAS-102 in a mouse model. (PubMed id 14719072)1, 7, 9 Emura T....Kitazato K. (Oncol. Rep. 2004)
    4. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. (PubMed id 9924029)1, 2, 9 Nishino I.... Hirano M. (Science 1999)
    5. Structures of native human thymidine phosphorylase and in complex with 5-iodouracil. (PubMed id 19555658)1, 2, 9 Mitsiki E.... Acharya K.R. (Biochem. Biophys. Res. Commun. 2009)
    6. Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. (PubMed id 19344718)1, 4, 9 Amiot A....LombA"s A. (Gastroenterology 2009)
    7. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. (PubMed id 18955007)1, 4, 9 Verny C....Bonneau D. (amp 2008)
    8. Structural basis for non-competitive product inhibition in human thymidine phosphorylase: implications for drug design. (PubMed id 16803458)1, 2, 9 El Omari K.... Stammers D.K. (Biochem. J. 2006)
    9. Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. (PubMed id 1400349)1, 2, 9 Asai K.... Kato T. (J. Biol. Chem. 1992)
    10. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1890 HGNC: 3148 AceView: ECGF1andSCO2andLOC440836 Ensembl:ENSG00000025708 euGenes: HUgn1890
    ECgene: TYMP Kegg: 1890 H-InvDB: TYMP

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TYMP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TYMP Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine mini-reviews: PD-ECGFhttp://www.rndsystems.com/molecule_detail.aspx?m=1965
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TYMP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TYMP gene:
    Search GeneIP for patents involving TYMP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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