hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_09464.1
Complex Portal: CPX-13525
Confidence: Moderate High
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| TK2 | Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2'-deoxyuridine kinase TK2) (EC 2.7.1.74) (Deoxycytidine kinase TK2) (EC 2.7.1.-) (Mt-TK) | 5 | UniProt NCBI |
| NHLRC1 | E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1) | 5 | UniProt NCBI |
| EPM2A | Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase) | 5 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| HP:0100318 | 1.26540735158e-05 | 0.666666666667 | NHLRC1 EPM2A | Lafora bodies |
| HP:0025357 | 0.000126523416231 | 0.666666666667 | NHLRC1 EPM2A | Erratic myoclonus |
| HP:0011165 | 0.000126523416231 | 0.666666666667 | NHLRC1 EPM2A | Focal sensory seizure with visual features |
| HP:0007537 | 0.000189776464884 | 0.666666666667 | NHLRC1 EPM2A | Severe photosensitivity |
| HP:0001312 | 0.000189776464884 | 0.666666666667 | NHLRC1 EPM2A | Giant somatosensory evoked potentials |
| REAC:R-HSA-3785653 | 0.00024538606603 | 0.666666666667 | NHLRC1 EPM2A | Myoclonic epilepsy of Lafora |
| REAC:R-HSA-3229121 | 0.000620139908703 | 0.666666666667 | NHLRC1 EPM2A | Glycogen storage diseases |
| REAC:R-HSA-3322077 | 0.000620139908703 | 0.666666666667 | NHLRC1 EPM2A | Glycogen synthesis |
| HP:0011157 | 0.00115089028102 | 0.666666666667 | NHLRC1 EPM2A | Focal sensory seizure |
| HP:0031358 | 0.00115089028102 | 0.666666666667 | NHLRC1 EPM2A | Vegetative state |
| HP:0007377 | 0.00132788970801 | 0.666666666667 | NHLRC1 EPM2A | Abnormality of somatosensory evoked potentials |
| HP:0002367 | 0.00132788970801 | 0.666666666667 | NHLRC1 EPM2A | Visual hallucination |
| REAC:R-HSA-8982491 | 0.00188000535098 | 0.666666666667 | NHLRC1 EPM2A | Glycogen metabolism |
| HP:0033348 | 0.00216216836724 | 0.666666666667 | NHLRC1 EPM2A | Epileptic aura |
| HP:0002090 | 0.00242132445096 | 1.0 | TK2 EPM2A NHLRC1 | Pneumonia |
| REAC:R-HSA-5663084 | 0.00296224002415 | 0.666666666667 | NHLRC1 EPM2A | Diseases of carbohydrate metabolism |
| HP:0002197 | 0.00344756089384 | 1.0 | TK2 EPM2A NHLRC1 | Generalized-onset seizure |
| HP:0002100 | 0.00410807097178 | 0.666666666667 | NHLRC1 EPM2A | Recurrent aspiration pneumonia |
| HP:0002540 | 0.00421684162259 | 1.0 | TK2 EPM2A NHLRC1 | Inability to walk |
| HP:0007270 | 0.00443651401809 | 0.666666666667 | NHLRC1 EPM2A | Atypical absence seizure |
| HP:0001268 | 0.00490874658422 | 1.0 | TK2 EPM2A NHLRC1 | Mental deterioration |
| HP:0000716 | 0.00662194256932 | 1.0 | TK2 EPM2A NHLRC1 | Depression |
| HP:0003678 | 0.00708857159683 | 0.666666666667 | NHLRC1 EPM2A | Rapidly progressive |
| HP:0040288 | 0.00708857159683 | 0.666666666667 | NHLRC1 EPM2A | Nasogastric tube feeding |
| HP:0032679 | 0.00708857159683 | 0.666666666667 | NHLRC1 EPM2A | Focal non-motor seizure |
| HP:0003679 | 0.00810836106939 | 1.0 | TK2 EPM2A NHLRC1 | Pace of progression |
| HP:0007334 | 0.00985306624309 | 0.666666666667 | NHLRC1 EPM2A | Bilateral tonic-clonic seizure with focal onset |
| HP:0100314 | 0.00985306624309 | 0.666666666667 | NHLRC1 EPM2A | Cerebral inclusion bodies |
| HP:0001260 | 0.0202930882181 | 1.0 | TK2 EPM2A NHLRC1 | Dysarthria |
| HP:0002344 | 0.0215948176879 | 0.666666666667 | NHLRC1 EPM2A | Progressive neurologic deterioration |
| HP:0001289 | 0.023094623718 | 0.666666666667 | NHLRC1 EPM2A | Confusion |
| HP:0000745 | 0.0234917943256 | 1.0 | TK2 EPM2A NHLRC1 | Diminished motivation |
| HP:5200275 | 0.0244069601643 | 1.0 | TK2 EPM2A NHLRC1 | Abnormal motivation |
| HP:0100851 | 0.0272944330425 | 1.0 | TK2 EPM2A NHLRC1 | Abnormal emotion |
| HP:0011947 | 0.0389077603189 | 1.0 | TK2 EPM2A NHLRC1 | Respiratory tract infection |
| HP:0010819 | 0.0439470786184 | 0.666666666667 | NHLRC1 EPM2A | Atonic seizure |
| HP:0012444 | 0.0474117601369 | 1.0 | TK2 EPM2A NHLRC1 | Brain atrophy |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD | Interface Overlap | Evidence |
|---|---|---|---|---|---|
| NHLRC1 | EPM2A | 0.996 | bioplex3_WMM bioplex3_HCT116 WMM_only | ||
| NHLRC1 | TK2 | 0.991 | bioplex3_WMM bioplex3_HCT116 WMM_only | ||
| TK2 | EPM2A | 0.378 | bioplex3_WMM WMM_only |
Related Complexes