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TYMP thymidine phosphorylase [ Homo sapiens (human) ]

Gene ID: 1890, updated on 12-Jan-2019

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

Genomic context

See TYMP in Genome Data Viewer
Location:
22q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 SCO cytochrome c oxidase assembly protein 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mitochondrial DNA depletion syndrome 1 (MNGIE type) not available

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
phosphorylase activity IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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)

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, ENST00000395678.7
    Conserved Domains (1) summary
    cl27889
    Location:37446
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal 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 (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, ENST00000395680.5
    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, ENST00000395681.5
    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, ENST00000252029.7
    Conserved Domains (1) summary
    cl27889
    Location:37446
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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