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TYMP thymidine phosphorylase [ Homo sapiens (human) ]

Gene ID: 1890, updated on 5-Mar-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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Location:
22q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50525752..50530085, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51036317..51040646, complement)
105.20220307 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
  • 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. Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes. Gautheron J, et al. BMC Med, 2022 Mar 28. PMID 35341481, Free PMC Article
  2. Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review. Mojtabavi H, et al. J Mol Neurosci, 2021 Dec. PMID 33825174
  3. Kinetics mechanism and regulation of native human hepatic thymidine phosphorylase. Oh T, et al. Int J Biochem Cell Biol, 2019 May. PMID 30849523
  4. Thymidine phosphorylase promotes metastasis and serves as a marker of poor prognosis in hepatocellular carcinoma. Zhang Q, et al. Lab Invest, 2017 Aug. PMID 28530649
  5. Thymidine phosphorylase exerts complex effects on bone resorption and formation in myeloma. Liu H, et al. Sci Transl Med, 2016 Aug 24. PMID 27559096, Free PMC Article

See all (186) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 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
  
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_2023_10

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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