TYMP
Thymidine phosphorylase
Also known as: ECGF1, MNGIE, TYPH_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19971
- Gene
- TYMP
- Ensembl
- ENSG00000025708
- Chromosome
- 22
- Canonical length
- 482 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies,Golgi apparatus,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
482 residues, UniProt reviewed canonical sequence.
>P19971|TYMP
1 MAALMTPGTG APPAPGDFSG EGSQGLPDPS PEPKQLPELI RMKRDGGRLS EADIRGFVAA
61 VVNGSAQGAQ IGAMLMAIRL RGMDLEETSV LTQALAQSGQ QLEWPEAWRQ QLVDKHSTGG
121 VGDKVSLVLA PALAACGCKV PMISGRGLGH TGGTLDKLES IPGFNVIQSP EQMQVLLDQA
181 GCCIVGQSEQ LVPADGILYA ARDVTATVDS LPLITASILS KKLVEGLSAL VVDVKFGGAA
241 VFPNQEQARE LAKTLVGVGA SLGLRVAAAL TAMDKPLGRC VGHALEVEEA LLCMDGAGPP
301 DLRDLVTTLG GALLWLSGHA GTQAQGAARV AAALDDGSAL GRFERMLAAQ GVDPGLARAL
361 CSGSPAERRQ LLPRAREQEE LLAPADGTVE LVRALPLALV LHELGAGRSR AGEPLRLGVG
421 AELLVDVGQR LRRGTPWLRV HRDGPALSGP QSRALQEALV LSDRAPFAAP SPFAELVLPP
481 QQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TYMP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 139 nTPM
Expression across tissuesHPA
Tissue
- spleen: 139 nTPM
- lung: 135 nTPM
- liver: 124 nTPM
- esophagus: 89 nTPM
- adipose tissue: 83 nTPM
- appendix: 73 nTPM
Single-cell type
- monocytes: 587 nCPM
- neutrophils: 410 nCPM
- extravillous trophoblasts: 378 nCPM
- cdc: 355 nCPM
- macrophages: 281 nCPM
- esophageal suprabasal cells: 240 nCPM
Immune cell
- classical monocyte: 137 nTPM
- neutrophil: 116 nTPM
- intermediate monocyte: 99 nTPM
- non-classical monocyte: 78 nTPM
- eosinophil: 75 nTPM
- myeloid DC: 40 nTPM
Brain region
- medulla oblongata: 50 nTPM
- thalamus: 42 nTPM
- midbrain: 41 nTPM
- pons: 36 nTPM
- choroid plexus: 29 nTPM
- white matter: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TYMP.
Disease | AllUniProt
Conditions TYMP is implicated in, by any mechanism.
- Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) MIM:603041
Disease | GeneticClinVar
198 pathogenic / likely-pathogenic of 1,105 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial DNA depletion syndrome 1
- Mitochondrial neurogastrointestinal encephalomyopathy
- TYMP-related disorder
- Inborn genetic diseases
- Thyroid cancer, nonmedullary, 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.92
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.1
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- cell differentiation
- chemotaxis
- dTMP catabolic process
- pyrimidine nucleobase metabolic process
- pyrimidine nucleoside metabolic process
Molecular functions
- 1,4-alpha-oligoglucan phosphorylase activity
- growth factor activity
- protein homodimerization activity
- thymidine phosphorylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thymidine/pyrimidine-nucleoside phosphorylase
- Glycosyl transferase, family 3
- Pyrimidine nucleoside phosphorylase, C-terminal
- Glycosyl transferase family 3, N-terminal domain
- Pyrimidine-nucleoside phosphorylase, conserved site
- Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic
- Nucleoside phosphorylase/phosphoribosyltransferase catalytic domain superfamily
- Glycosyl transferase family 3, N-terminal domain superfamily
- Pyrimidine nucleoside phosphorylase-like, C-terminal domain superfamily
- Glycosyl transferase family, a/b domain
- Glycosyl transferase family, helical bundle domain
- Pyrimidine nucleoside phosphorylase C-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TYMP as an antibody target. Whether an autoantibody or antibody against TYMP could matter depends on whether native TYMP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TYMP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TYMP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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