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    TYMP thymidine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 1890, updated on 20-Apr-2017
    Official Symbol
    TYMPprovided by HGNC
    Official Full Name
    thymidine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:3148
    See related
    Ensembl:ENSG00000025708 MIM:131222; Vega:OTTHUMG00000150249
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TP; ECGF; ECGF1; MNGIE; MEDPS1; MTDPS1; PDECGF; hPD-ECGF
    Summary
    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]
    Orthologs
    Location:
    22q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (50525752..50530085, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50964181..50968514, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene lipase maturation factor 2 Neighboring gene non-SMC condensin II complex subunit H2 Neighboring gene SCO2, cytochrome c oxidase assembly protein Neighboring gene outer dense fiber of sperm tails 3B Neighboring gene uncharacterized LOC102724608 Neighboring gene uncharacterized LOC105373098

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
    • Bladder Cancer, organism-specific biosystem (from WikiPathways)
      Bladder Cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, organism-specific biosystem (from KEGG)
      Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, conserved biosystem (from KEGG)
      Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Drug metabolism - other enzymes, organism-specific biosystem (from KEGG)
      Drug metabolism - other enzymes, organism-specific biosystem
      Drug metabolism - other enzymes
    • Drug metabolism - other enzymes, conserved biosystem (from KEGG)
      Drug metabolism - other enzymes, conserved biosystem
      Drug metabolism - other enzymes
    • Fluoropyrimidine Activity, organism-specific biosystem (from WikiPathways)
      Fluoropyrimidine Activity, organism-specific biosystemThe main mechanism of 5-FU activation is conversion to fluorodeoxyuridine monophosphate (FdUMP) which inhibits the enzyme thymidylate synthase (TYMS), an important part of the folate-homocysteine cyc...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
      Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
    • Pyrimidine catabolism, organism-specific biosystem (from REACTOME)
      Pyrimidine catabolism, organism-specific biosystemIn parallel sequences of three reactions each, thymine is converted to beta-aminoisobutyrate and uracil is converted to beta-alanine. Both of these molecules are excreted in human urine and appear to...
    • Pyrimidine metabolism, organism-specific biosystem (from REACTOME)
      Pyrimidine metabolism, organism-specific biosystemThe events of human pyrimidine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of the pyrimidine ring and its conversion to uridine 5'-monophosphat...
    • Pyrimidine metabolism, organism-specific biosystem (from KEGG)
      Pyrimidine metabolism, organism-specific biosystem
      Pyrimidine metabolism
    • Pyrimidine metabolism, conserved biosystem (from KEGG)
      Pyrimidine metabolism, conserved biosystem
      Pyrimidine metabolism
    • Pyrimidine salvage reactions, organism-specific biosystem (from REACTOME)
      Pyrimidine salvage reactions, organism-specific biosystemIn pyrimidine salvage reactions, nucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathways of pyrimidine bi...
    • pyrimidine deoxyribonucleosides degradation, organism-specific biosystem (from BIOCYC)
      pyrimidine deoxyribonucleosides degradation, organism-specific biosystemGeneral Background The pyrimidine deoxyribonucleosides : THYMIDINE and : DEOXYCYTIDINE can be degraded to the : DEOXY-D-RIBOSE-1-PHOSPHATE moiety and the free pyrimidine nucleobases : THYMINE and :...
    • pyrimidine deoxyribonucleosides degradation, conserved biosystem (from BIOCYC)
      pyrimidine deoxyribonucleosides degradation, conserved biosystemThe pyrimidine deoxyribonucleosides |FRAME: THYMIDINE| and |FRAME: DEOXYURIDINE| can be degraded by phosphorylases that remove the |FRAME: DEOXY-D-RIBOSE-1-PHOSPHATE| moiety, leaving the free pyrimid...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyrimidine-nucleoside phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    thymidine phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thymidine phosphorylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transferase activity, transferring pentosyl groups EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrimidine nucleobase metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    pyrimidine nucleoside catabolic process TAS
    Traceable Author Statement
    more info
     
    pyrimidine nucleoside metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyrimidine nucleoside metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrimidine nucleoside salvage TAS
    Traceable Author Statement
    more info
     
    regulation of gastric motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transmission of nerve impulse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    thymidine phosphorylase
    Names
    gliostatin
    tdRPase
    NP_001107227.1
    NP_001107228.1
    NP_001244917.1
    NP_001244918.1
    NP_001944.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011860.1 RefSeqGene

      Range
      5001..9334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_727

    mRNA and Protein(s)

    1. NM_001113755.2NP_001107227.1  thymidine phosphorylase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001107227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AK314716, BC052211, BM744178, U62317
      Consensus CDS
      CCDS14096.1
      UniProtKB/Swiss-Prot
      P19971
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000379036.3, OTTHUMP00000196768, ENST00000395678.7, OTTHUMT00000317085
      Conserved Domains (4) summary
      smart00941
      Location:389462
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37446
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:3898
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
    2. NM_001113756.2NP_001107228.1  thymidine phosphorylase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001107228.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      BC052211, BM744178, M63193, U62317
      Consensus CDS
      CCDS14096.1
      UniProtKB/Swiss-Prot
      P19971
      UniProtKB/TrEMBL
      E5KRG5
      Conserved Domains (4) summary
      smart00941
      Location:389462
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37446
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:3898
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
    3. NM_001257988.1NP_001244917.1  thymidine phosphorylase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001244917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AK225269, BC052211, U62317
      Consensus CDS
      CCDS14096.1
      UniProtKB/Swiss-Prot
      P19971
      UniProtKB/TrEMBL
      E5KRG5
      Related
      ENSP00000379037.1, OTTHUMP00000196769, ENST00000395680.5, OTTHUMT00000317086
      Conserved Domains (4) summary
      smart00941
      Location:389462
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37446
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:3898
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
    4. NM_001257989.1NP_001244918.1  thymidine phosphorylase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses alternate splice sites in the 5' UTR and the 3' coding region, compared to variant 1. The resulting isoform (2) has an additional segment in the C-terminal region, compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AK225269, BC052211, BM744178, U62317
      Consensus CDS
      CCDS58811.1
      UniProtKB/Swiss-Prot
      P19971
      Related
      ENSP00000379038.1, OTTHUMP00000196767, ENST00000395681.5, OTTHUMT00000317083
      Conserved Domains (4) summary
      smart00941
      Location:394467
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37451
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:3898
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
    5. NM_001953.4NP_001944.1  thymidine phosphorylase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      BC018160, BC052211, BM744178, U62317
      Consensus CDS
      CCDS14096.1
      UniProtKB/Swiss-Prot
      P19971
      UniProtKB/TrEMBL
      E5KRG5
      Related
      ENSP00000252029.3, OTTHUMP00000196766, ENST00000252029.7, OTTHUMT00000317081
      Conserved Domains (4) summary
      smart00941
      Location:389462
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37446
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:3898
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      50525752..50530085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      50922918..50927220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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