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TYMP thymidine phosphorylase [ Homo sapiens (human) ]

Gene ID: 1890, updated on 13-Jul-2014
Official Symbol
TYMPprovided by HGNC
Official Full Name
thymidine phosphorylaseprovided by HGNC
Primary source
HGNC:3148
See related
Ensembl:ENSG00000025708; HPRD:08833; 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]
See TYMP in Epigenomics, MapViewer
Location:
22q13.33
Exon count :
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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 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...
  • 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, 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...
  • salvage pathways of pyrimidine deoxyribonucleotides, organism-specific biosystem (from BIOCYC)
    salvage pathways of pyrimidine deoxyribonucleotides, organism-specific biosystem
    salvage pathways of pyrimidine deoxyribonucleotides
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 IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor binding TAS
Traceable Author Statement
more info
PubMed 
pyrimidine-nucleoside phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
thymidine phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
transferase activity, transferring pentosyl groups EXP
Inferred from Experiment
more info
 
Process Evidence Code Pubs
DNA replication TAS
Traceable Author Statement
more info
PubMed 
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 TAS
Traceable Author Statement
more info
PubMed 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
more info
 
pyrimidine nucleobase metabolic process TAS
Traceable Author Statement
more info
 
pyrimidine nucleoside catabolic process TAS
Traceable Author Statement
more info
 
pyrimidine nucleoside salvage TAS
Traceable Author Statement
more info
 
pyrimidine nucleotide metabolic process TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
thymidine phosphorylase
Names
thymidine phosphorylase
tdRPase
gliostatin
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    B2RBL3
    UniProtKB/TrEMBL
    E5KRG5
    UniProtKB/Swiss-Prot
    P19971
    Related
    ENSP00000379036, OTTHUMP00000196768, ENST00000395678, OTTHUMT00000317085
    Conserved Domains (4) summary
    PRK05820
    Location:37470
    Blast Score: 1178
    deoA; thymidine phosphorylase; Reviewed
    smart00941
    Location:389462
    Blast Score: 162
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    pfam00591
    Location:109340
    Blast Score: 539
    Glycos_transf_3; Glycosyl transferase family, a/b domain
    pfam02885
    Location:3599
    Blast Score: 168
    Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
  2. NM_001113756.2NP_001107228.1  thymidine phosphorylase isoform 1 proprotein

    See proteins identical to 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/TrEMBL
    E5KRG5
    UniProtKB/Swiss-Prot
    P19971
    Conserved Domains (4) summary
    PRK05820
    Location:37470
    Blast Score: 1178
    deoA; thymidine phosphorylase; Reviewed
    smart00941
    Location:389462
    Blast Score: 162
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    pfam00591
    Location:109340
    Blast Score: 539
    Glycos_transf_3; Glycosyl transferase family, a/b domain
    pfam02885
    Location:3599
    Blast Score: 168
    Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
  3. NM_001257988.1NP_001244917.1  thymidine phosphorylase isoform 1 proprotein

    See proteins identical to 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/TrEMBL
    E5KRG5
    UniProtKB/Swiss-Prot
    P19971
    Related
    ENSP00000379037, OTTHUMP00000196769, ENST00000395680, OTTHUMT00000317086
    Conserved Domains (4) summary
    PRK05820
    Location:37470
    Blast Score: 1178
    deoA; thymidine phosphorylase; Reviewed
    smart00941
    Location:389462
    Blast Score: 162
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    pfam00591
    Location:109340
    Blast Score: 539
    Glycos_transf_3; Glycosyl transferase family, a/b domain
    pfam02885
    Location:3599
    Blast Score: 168
    Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
  4. NM_001257989.1NP_001244918.1  thymidine phosphorylase isoform 2 proprotein

    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.
    Source sequence(s)
    AK225269, BC052211, BM744178, U62317
    Consensus CDS
    CCDS58811.1
    UniProtKB/Swiss-Prot
    P19971
    Related
    ENSP00000379038, OTTHUMP00000196767, ENST00000395681, OTTHUMT00000317083
    Conserved Domains (4) summary
    smart00941
    Location:394467
    Blast Score: 162
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    TIGR02644
    Location:37451
    Blast Score: 1158
    Y_phosphoryl; pyrimidine-nucleoside phosphorylase
    pfam00591
    Location:109340
    Blast Score: 538
    Glycos_transf_3; Glycosyl transferase family, a/b domain
    pfam02885
    Location:3599
    Blast Score: 168
    Glycos_trans_3N; Glycosyl transferase family, helical bundle domain
  5. NM_001953.4NP_001944.1  thymidine phosphorylase isoform 1 proprotein

    See proteins identical to 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/TrEMBL
    E5KRG5
    UniProtKB/Swiss-Prot
    P19971
    Related
    ENSP00000252029, OTTHUMP00000196766, ENST00000252029, OTTHUMT00000317081
    Conserved Domains (4) summary
    PRK05820
    Location:37470
    Blast Score: 1178
    deoA; thymidine phosphorylase; Reviewed
    smart00941
    Location:389462
    Blast Score: 162
    PYNP_C; Pyrimidine nucleoside phosphorylase C-terminal domain
    pfam00591
    Location:109340
    Blast Score: 539
    Glycos_transf_3; Glycosyl transferase family, a/b domain
    pfam02885
    Location:3599
    Blast Score: 168
    Glycos_trans_3N; Glycosyl transferase family, helical bundle domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

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

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    33855199..33859532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

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

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