| Tbio | Tripeptidyl-peptidase 1 |
Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).
This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer Disease | 83 | 0.0 | 0.0 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 2 | 1 | 0.0 | 0.0 |
| Neuronal Ceroid-Lipofuscinoses | 4 | 0.0 | 0.0 |
| Prostatic Neoplasms | 495 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 7.5e-13 |
| tuberculosis | 2010 | 1.0e-06 |
| Astrocytoma, Pilocytic | 3081 | 7.9e-06 |
| acute quadriplegic myopathy | 1158 | 1.9e-05 |
| Down syndrome | 499 | 2.0e-04 |
| oligodendroglioma | 2850 | 6.7e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.1e-03 |
| pediatric high grade glioma | 1064 | 4.2e-03 |
| group 3 medulloblastoma | 4104 | 8.6e-03 |
| ependymoma | 4679 | 9.1e-03 |
| astrocytic glioma | 2597 | 1.9e-02 |
| glioblastoma | 5792 | 2.2e-02 |
| Polycystic ovary syndrome | 360 | 4.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuronal ceroid lipofuscinosis | 28 | 7.374 | 3.7 |
| Neurodegenerative disease | 414 | 3.175 | 1.6 |
| Autosomal dominant cerebellar ataxia | 33 | 0.0 | 4.0 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.220 | 1.9e-05 |
| astrocytic glioma | 1.200 | 1.9e-02 |
| Astrocytoma, Pilocytic | 1.400 | 7.9e-06 |
| atypical teratoid / rhabdoid tumor | 1.200 | 1.1e-03 |
| Down syndrome | 2.100 | 2.0e-04 |
| ependymoma | 1.600 | 9.1e-03 |
| glioblastoma | 2.100 | 2.2e-02 |
| group 3 medulloblastoma | -1.300 | 8.6e-03 |
| oligodendroglioma | 2.200 | 6.7e-04 |
| ovarian cancer | -2.800 | 7.5e-13 |
| pediatric high grade glioma | 1.200 | 4.2e-03 |
| Polycystic ovary syndrome | -1.144 | 4.9e-02 |
| tuberculosis | 1.200 | 1.0e-06 |
MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSD 1 - 70 PSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHH 71 - 140 YVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYN 141 - 210 LTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYL 211 - 280 MSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAAR 281 - 350 GLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPS 351 - 420 YQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINE 421 - 490 HRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTL 491 - 560 LNP 561 - 563 //
