mutLBSgeneDB |
Gene summary for PTBP1 |
Gene summary |
Basic gene Info. | Gene symbol | PTBP1 |
Gene name | polypyrimidine tract binding protein 1 | |
Synonyms | HNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB | |
Cytomap | UCSC genome browser: 19p13.3 | |
Type of gene | protein-coding | |
RefGenes | NM_002819.4, NM_031990.3,NM_031991.3,NM_175847.2, | |
Description | 57 kDa RNA-binding protein PPTB-1RNA-binding proteinheterogeneous nuclear ribonucleoprotein Iheterogeneous nuclear ribonucleoprotein polypeptide IhnRNP Ipolypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)polypyrimidine t | |
Modification date | 20141207 | |
dbXrefs | MIM : 600693 | |
HGNC : HGNC | ||
Ensembl : ENSG00000011304 | ||
HPRD : 02823 | ||
Vega : OTTHUMG00000181789 | ||
Protein | UniProt: P26599 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PTBP1 | |
BioGPS: 5725 | ||
Pathway | NCI Pathway Interaction Database: PTBP1 | |
KEGG: PTBP1 | ||
REACTOME: PTBP1 | ||
Pathway Commons: PTBP1 | ||
Context | iHOP: PTBP1 | |
ligand binding site mutation search in PubMed: PTBP1 | ||
UCL Cancer Institute: PTBP1 | ||
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 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 16260624 | GO:0033119 | negative regulation of RNA splicing | 18335065 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 | GO:0051148 | negative regulation of muscle cell differentiation | 21518792 |
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Ligand binding site mutations for PTBP1 |
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 | R185 | V183M | BLCA | 1 | L263 | S262N | COAD | 1 | K368 | R366L | COAD | 1 | N376,L378 | A377T | COAD | 1 | R523 | R523P | LUAD | 1 | R52 | R52G | SKCM | 1 | L253 | R254H | STAD | 1 | R418 | R418C | STAD | 1 | H457 | T455M | STAD | 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 PTBP1 |
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 | L253 | R254H | -1.3416917 | R52 | R52G | -1.2016857 | R185 | V183M | -1.1953637 | L263 | S262N | -1.12968 | R523 | R523P | -0.9649879 | R418 | R418C | -0.89647237 | K368 | R366L | -0.83858439 | N376 | A377T | -0.70295778 | L378 | A377T | -0.70295778 | H457 | T455M | -0.60240656 |
(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 PTBP1 from PDB |
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Differential gene expression and gene-gene network for PTBP1 |
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 PTBP1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0007097 | Carcinoma | 2 | Biomarker |
umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PTBP1 |
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 PTBP1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2adc | A | H457 R523 | NUC | Nucleic Acids | 2adc | A | K368 N376 L378 R418 | III | Peptide ligand (SER,GLU,GLY,LEU,LEU,GLY,LEU) | 3zzz | B | L253 | NUC | Nucleic Acids | 2adb | A | R185 L263 | NUC | Nucleic Acids | 2ad9 | A | R52 |
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Conservation information for LBS of PTBP1 |
Multiple alignments for P26599 in multiple species |
LBS | AA sequence | # species | Species |
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