Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.2.4
Transferases;
Glycosyltransferases;
Pentosyltransferases;
thymidine phosphorylase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1UOU | 2.11 | Crystal structure of human thymidine phosphorylase in complex with a small molecule inhibitor |
| 2J0F | 2.31 | Structural basis for non-competitive product inhibition in human thymidine phosphorylase: implication for drug design |
| 2WK5 | 2.99 | Structural features of native human thymidine phosphorylase and in complex with 5-iodouracil |
| 2WK6 | 2.5 | Structural features of native human thymidine phosphorylase and in complex with 5-iodouracil |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0001525 | angiogenesis |
| Biological Process | GO:0030154 | cell differentiation |
| Biological Process | GO:0006935 | chemotaxis |
| Biological Process | GO:0046074 | dTMP catabolic process |
| Biological Process | GO:0000002 | mitochondrial genome maintenance |
| Biological Process | GO:0006206 | pyrimidine nucleobase metabolic process |
| Biological Process | GO:0006213 | pyrimidine nucleoside metabolic process |
| Biological Process | GO:1905333 | regulation of gastric motility |
| Biological Process | GO:0031641 | regulation of myelination |
| Biological Process | GO:0051969 | regulation of transmission of nerve impulse |
| Molecular Function | GO:0004645 | 1,4-alpha-oligoglucan phosphorylase activity |
| Molecular Function | GO:0008083 | growth factor activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0016154 | pyrimidine-nucleoside phosphorylase activity |
| Molecular Function | GO:0009032 | thymidine phosphorylase activity |
| Cellular Component | GO:0005829 | cytosol |
| InterPro
|
InterPro name |
|---|---|
| IPR000053 | Thymidine/pyrimidine-nucleoside phosphorylase |
| IPR000312 | Glycosyl transferase, family 3 |
| IPR013102 | Pyrimidine nucleoside phosphorylase, C-terminal |
| IPR017459 | Glycosyl transferase family 3, N-terminal domain |
| IPR017872 | Pyrimidine-nucleoside phosphorylase, conserved site |
| IPR018090 | Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic |
| IPR035902 | Nucleoside phosphorylase/phosphoribosyltransferase catalytic domain superfamily |
| IPR036320 | Glycosyl transferase family 3, N-terminal domain superfamily |
| IPR036566 | Pyrimidine nucleoside phosphorylase-like, C-terminal domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00591 | Glycosyl transferase family, a/b domain |
| PF02885 | Glycosyl transferase family, helical bundle domain |
| PF07831 | Pyrimidine nucleoside phosphorylase C-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-73614 | Pyrimidine salvage | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-73621 | Pyrimidine catabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000651 | Diplopia |
| HP:0000726 | Dementia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001155 | Abnormality of the hand |
| HP:0001249 | Intellectual disability |
| HP:0001284 | Areflexia |
| HP:0001394 | Cirrhosis |
| HP:0001403 | Macrovesicular hepatic steatosis |
| HP:0001533 | Slender build |
| HP:0001824 | Weight loss |
| HP:0001903 | Anemia |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002018 | Nausea |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002024 | Malabsorption |
| HP:0002027 | Abdominal pain |
| HP:0002253 | Colonic diverticula |
| HP:0002254 | Intermittent diarrhea |
| HP:0002352 | Leukoencephalopathy |
| HP:0002460 | Distal muscle weakness |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002578 | Gastroparesis |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0002922 | Increased CSF protein concentration |
| HP:0002936 | Distal sensory impairment |
| HP:0003128 | Lactic acidosis |
| HP:0003199 | Decreased muscle mass |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003270 | Abdominal distention |
| HP:0003348 | Hyperalaninemia |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0003388 | Easy fatigability |
| HP:0003401 | Paresthesia |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0003693 | Distal amyotrophy |
| HP:0003737 | Mitochondrial myopathy |
| HP:0004326 | Cachexia |
| HP:0004389 | Intestinal pseudo-obstruction |
| HP:0004395 | Malnutrition |
| HP:0004396 | Poor appetite |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0008049 | Abnormality of the extraocular muscles |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0012533 | Allodynia |
| HP:0012850 | Small intestinal dysmotility |
| HP:0025149 | Atrophic muscularis propria |
| HP:0025461 | Abnormal cell morphology |
| HP:0030143 | Hyperactive bowel sounds |
| HP:0031368 | Intestinal perforation |
| HP:0032155 | Abdominal cramps |
| HP:0033748 | Hypoesthesia |
| HP:0033842 | Early satiety |
| HP:0034276 | Elevated circulating thymidine concentration |
| HP:0034277 | Elevated circulating deoxyuridine concentration |
| HP:0100613 | Death in early adulthood |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| endometrium 1 | cells in endometrial stroma | Low | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| kidney | cells in tubules | Low | Enhanced |
| lung | macrophages | Medium | Enhanced |
| lymph node | non-germinal center cells | Medium | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Low | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | epidermal cells | Medium | Enhanced |
| spleen | cells in red pulp | Medium | Enhanced |
| spleen | cells in white pulp | Medium | Enhanced |
| tonsil | non-germinal center cells | Low | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mitochondrial dna depletion syndrome 1 | MONDO:0011283 | G71 | chapter6, Diseases of the nervous system | OMIM:603041 | Orphanet:298 |
| mitochondrial neurogastrointestinal encephalomyopathy | MONDO:0017575 | G71 | chapter6, Diseases of the nervous system | Orphanet:298 |