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    TYMP thymidine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 1890, updated on 8-Jul-2021

    Summary

    Official Symbol
    TYMPprovided by HGNC
    Official Full Name
    thymidine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:3148
    See related
    Ensembl:ENSG00000025708 MIM:131222
    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]
    Expression
    Broad expression in appendix (RPKM 56.4), spleen (RPKM 37.3) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TYMP in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50525752..50530085, complement)
    105.20201022 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 synthesis of cytochrome C oxidase 2 Neighboring gene outer dense fiber of sperm tails 3B Neighboring gene ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    GeneReviews: Not available
    Mitochondrial DNA depletion syndrome 1 (MNGIE type) Compare labs
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    GeneReviews: Not available
    Seventy-five genetic loci influencing the human red blood cell.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1,4-alpha-oligoglucan phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pyrimidine-nucleoside phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables thymidine phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thymidine phosphorylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dTMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pyrimidine nucleobase metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyrimidine nucleoside metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyrimidine nucleoside metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gastric motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transmission of nerve impulse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    thymidine phosphorylase
    Names
    gliostatin
    tdRPase
    NP_001107227.1
    NP_001107228.1
    NP_001244917.1
    NP_001244918.1
    NP_001944.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001113755.3NP_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
      Consensus CDS
      CCDS14096.1
      UniProtKB/Swiss-Prot
      P19971
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000379036.3, ENST00000395678.7
      Conserved Domains (1) summary
      cl27889
      Location:37446
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    2. NM_001113756.3NP_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
      Related
      ENSP00000498844.1, ENST00000487577.5
      Conserved Domains (1) summary
      cl27889
      Location:37446
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal 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, ENST00000395680.6
      Conserved Domains (1) summary
      cl27889
      Location:37446
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal 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, ENST00000395681.6
      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_001953.5NP_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, ENST00000252029.8
      Conserved Domains (1) summary
      cl27889
      Location:37446
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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