mutLBSgeneDB |
Gene summary for TPP1 |
Gene summary |
Basic gene Info. | Gene symbol | TPP1 |
Gene name | tripeptidyl peptidase I | |
Synonyms | CLN2|LPIC|SCAR7|TPP-1 | |
Cytomap | UCSC genome browser: 11p15 | |
Type of gene | protein-coding | |
RefGenes | NM_000391.3, | |
Description | cell growth-inhibiting gene 1 proteingrowth-inhibiting protein 1lysosomal pepstatin insensitive proteasetripeptidyl aminopeptidasetripeptidyl-peptidase 1 | |
Modification date | 20141219 | |
dbXrefs | MIM : 607998 | |
HGNC : HGNC | ||
Ensembl : ENSG00000166340 | ||
HPRD : 06415 | ||
Vega : OTTHUMG00000133404 | ||
Protein | UniProt: O14773 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TPP1 | |
BioGPS: 1200 | ||
Pathway | NCI Pathway Interaction Database: TPP1 | |
KEGG: TPP1 | ||
REACTOME: TPP1 | ||
Pathway Commons: TPP1 | ||
Context | iHOP: TPP1 | |
ligand binding site mutation search in PubMed: TPP1 | ||
UCL Cancer Institute: TPP1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for TPP1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H149 | T148A | COAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for TPP1 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | H149 | T148A | -1.6444095 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for TPP1 from PDB |
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Differential gene expression and gene-gene network for TPP1 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for TPP1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0027877 | Neuronal Ceroid-Lipofuscinoses | 31 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0002395 | Alzheimer Disease | 1 | Biomarker |
umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for TPP1 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of TPP1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3ee6 | A | H149 | ZN | ZINC(2+) | 3ee6 | B | H149 |
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Conservation information for LBS of TPP1 |
Multiple alignments for O14773 in multiple species |
LBS | AA sequence | # species | Species | D457 | VAALSDGYWVV | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | D517 | GAGLFDVTRGC | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | D517 | GTGLFDVTHGC | 1 | Mus musculus | D517 | GAGLFDVTHGC | 1 | Rattus norvegicus | D543 | SGPGWDPVTGW | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | E137 | LLPGAEFHHYV | 2 | Homo sapiens, Pan troglodytes | E137 | LLPGAEFHRYV | 2 | Mus musculus, Rattus norvegicus | E137 | LLSGAEFHRYV | 1 | Canis lupus familiaris | E137 | LLSGAEFHHYV | 1 | Bos taurus | E45 | RADPEEELSLT | 3 | Homo sapiens, Pan troglodytes, Bos taurus | E45 | RVDPEEELSLT | 2 | Mus musculus, Rattus norvegicus | E45 | RVDSEEELSLT | 1 | Canis lupus familiaris | G539 | QGFCSGPGWDP | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G541 | FCSGPGWDPVT | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | H140 | GAEFHHYVGGP | 3 | Homo sapiens, Pan troglodytes, Bos taurus | H140 | GAEFHRYVGGP | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | H149 | GPTETHVVRSP | 2 | Homo sapiens, Pan troglodytes | H149 | GPTKTHVIRSP | 1 | Mus musculus | H149 | GPAKTHIIRSP | 1 | Rattus norvegicus | H149 | GPTEIHVIRSL | 1 | Canis lupus familiaris | H149 | GPAETHAVRSL | 1 | Bos taurus | H155 | VVRSPHPYQLP | 2 | Homo sapiens, Pan troglodytes | H155 | VIRSPHPYQLP | 1 | Mus musculus | H155 | IIRSPHPYQLP | 1 | Rattus norvegicus | H155 | VIRSLRPYQLP | 1 | Canis lupus familiaris | H155 | AVRSLHPYRLP | 1 | Bos taurus | H197 | GTVGLHLGVTP | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | H197 | GTVSLHLGVTP | 1 | Mus musculus | H197 | GPVGLHLGVTP | 1 | Rattus norvegicus | P540 | GFCSGPGWDPV | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | T546 | GWDPVTGWGTP | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | V518 | AGLFDVTRGCH | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | V518 | TGLFDVTHGCH | 1 | Mus musculus | V518 | AGLFDVTHGCH | 1 | Rattus norvegicus |
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