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    TYMP thymidine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 1890, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TYMPprovided by HGNC
    Official Full Name
    thymidine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:3148
    See related
    Ensembl:ENSG00000025708 MIM:131222; AllianceGenome:HGNC:3148
    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
    mouse all
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    Genomic context

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    See TYMP in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50525752..50530085, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51036317..51040646, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 19321 Neighboring gene lipase maturation factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13984 Neighboring gene non-SMC condensin II complex subunit H2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50955745-50956678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50965237-50965808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19324 Neighboring gene synthesis of cytochrome C oxidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50969361-50969866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13994 Neighboring gene ciliary microtubule associated protein 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19326 Neighboring gene ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC102724608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19329 Neighboring gene Sharpr-MPRA regulatory region 5393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19330 Neighboring gene KLHDC7B divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Thymidine phosphorylase expression and benefit from capecitabine in patients with advanced breast cancer. Andreetta C, et al. Ann Oncol, 2009 Feb. PMID 18765464
    2. Role of platelet derived endothelial cell growth factor/thymidine phosphorylase in fluoropyrimidine sensitivity and potential role of deoxyribose-1-phosphate. de Bruin M, et al. Nucleosides Nucleotides Nucleic Acids, 2004 Oct. PMID 15571282
    3. A novel thymidine phosphorylase mutation in a Spanish MNGIE patient. Gamez J, et al. J Neurol Sci, 2005 Jan 15. PMID 15607208
    4. Expression of thymidine phosphorylase correlates with microvessel density in prostate cancer. Kataoka A, et al. Oncol Rep, 2005 Apr. PMID 15756429
    5. Thymidine phosphorylase expression and efficacy of adjuvant doxifluridine in advanced colorectal cancer patients. Hasegawa S, et al. Oncol Rep, 2005 Apr. PMID 15756433

    See all (188) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifying TYMP as an Immune Prognostic Marker in Clear Cell Renal Cell Carcinoma.
      Title: Identifying TYMP as an Immune Prognostic Marker in Clear Cell Renal Cell Carcinoma.
    2. Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
      Title: Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
    3. Impact of thymidine phosphorylase and CD163 expression on prognosis in stage II colorectal cancer.
      Title: Impact of thymidine phosphorylase and CD163 expression on prognosis in stage II colorectal cancer.
    4. Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
      Title: Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
    5. Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.
      Title: Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.
    6. Thymidine phosphorylase promotes angiogenesis and tumour growth in intrahepatic cholangiocarcinoma.
      Title: Thymidine phosphorylase promotes angiogenesis and tumour growth in intrahepatic cholangiocarcinoma.
    7. These results indicated that hDHFR is not the only target of Pyr. We further found that thymidine phosphorylase (TP), an enzyme that is closely associated with the EMT of cancer cells, is also a target protein of Pyr. The data retrieved from the Cancer Genome Atlas (TCGA) database revealed that TP overexpression is associated with poor prognosis of patients with lung cancer
      Title: Antimalarial Drug Pyrimethamine Plays a Dual Role in Antitumor Proliferation and Metastasis through Targeting DHFR and TP.
    8. Kinetics mechanism and regulation of native human hepatic thymidine phosphorylase
      Title: Kinetics mechanism and regulation of native human hepatic thymidine phosphorylase.
    9. Sp1-binding sites in the TP promoter were methylated in epidermoid carcinoma. 5-Aza-CdR demethylated Sp1-binding sites and enhanced sensitivity to 5-FU
      Title: 5-Aza-2-deoxycytidine Enhances the Sensitivity of 5-Fluorouracil by Demethylation of the Thymidine Phosphorylase Promoter.
    10. Data show that thymidine phosphorylase (TYMP) positive patients had higher systemic immune-inflammation index (SII) score.
      Title: Systemic immune-inflammation index, thymidine phosphorylase and survival of localized gastric cancer patients after curative resection.
    Submit: New GeneRIF Correction See all GeneRIFs (130)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial DNA depletion syndrome 1
    MedGen: C4551995 OMIM: 603041 GeneReviews: Mitochondrial Neurogastrointestinal Encephalopathy Disease
    		not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 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
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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    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_001113755.3 → NP_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
      A8MW15, H9KVA0, P19971, Q13390, Q8WVB7
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000379036.3, ENST00000395678.7
      Conserved Domains (1) summary
      cl40719
      Location:37 → 446
      PRK06078; pyrimidine-nucleoside phosphorylase; Reviewed

    2. NM_001113756.3 → NP_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
      A8MW15, H9KVA0, P19971, Q13390, Q8WVB7
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000498844.1, ENST00000487577.5
      Conserved Domains (1) summary
      cl40719
      Location:37 → 446
      PRK06078; pyrimidine-nucleoside phosphorylase; Reviewed

    3. NM_001257988.1 → NP_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
      A8MW15, H9KVA0, P19971, Q13390, Q8WVB7
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000379037.1, ENST00000395680.6
      Conserved Domains (1) summary
      cl40719
      Location:37 → 446
      PRK06078; pyrimidine-nucleoside phosphorylase; Reviewed

    4. NM_001257989.1 → NP_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/TrEMBL
      B2RBL3
      Related
      ENSP00000379038.1, ENST00000395681.6
      Conserved Domains (4) summary
      smart00941
      Location:394 → 467
      PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
      TIGR02644
      Location:37 → 451
      Y_phosphoryl; pyrimidine-nucleoside phosphorylase
      pfam00591
      Location:109 → 340
      Glycos_transf_3; Glycosyl transferase family, a/b domain
      pfam02885
      Location:38 → 98
      Glycos_trans_3N; Glycosyl transferase family, helical bundle domain

    5. NM_001953.5 → NP_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
      A8MW15, H9KVA0, P19971, Q13390, Q8WVB7
      UniProtKB/TrEMBL
      B2RBL3, E5KRG5
      Related
      ENSP00000252029.3, ENST00000252029.8
      Conserved Domains (1) summary
      cl40719
      Location:37 → 446
      PRK06078; pyrimidine-nucleoside phosphorylase; Reviewed

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51036317..51040646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19971.2 GenPept UniProtKB/Swiss-Prot:P19971

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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