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mutLBSgeneDB |
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| Gene summary for PPM1A |
 Gene summary |
| Basic gene Info. | Gene symbol | PPM1A |
| Gene name | protein phosphatase, Mg2+/Mn2+ dependent, 1A | |
| Synonyms | PP2C-ALPHA|PP2CA|PP2Calpha | |
| Cytomap | UCSC genome browser: 14q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021003.4, NM_177951.2,NM_177952.2, | |
| Description | protein phosphatase 1Aprotein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606108 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100614 | ||
| HPRD : 16199 | ||
| Vega : OTTHUMG00000140333 | ||
| Protein | UniProt: P35813 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PPM1A | |
| BioGPS: 5494 | ||
| Pathway | NCI Pathway Interaction Database: PPM1A | |
| KEGG: PPM1A | ||
| REACTOME: PPM1A | ||
| Pathway Commons: PPM1A | ||
| Context | iHOP: PPM1A | |
| ligand binding site mutation search in PubMed: PPM1A | ||
| UCL Cancer Institute: PPM1A | ||
| 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:0010991 | negative regulation of SMAD protein complex assembly | 16751101 | GO:0016055 | Wnt signaling pathway | 10644691 | GO:0016311 | dephosphorylation | 10644691 | GO:0030177 | positive regulation of Wnt signaling pathway | 10644691 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 16751101 | GO:0035970 | peptidyl-threonine dephosphorylation | 11559703 | GO:0045893 | positive regulation of transcription, DNA-templated | 10644691 |
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| Ligand binding site mutations for PPM1A |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L214 | S216L | BLCA | 1 | R33 | R33H | COAD | 1 | R33 | R33C | COAD | 1 | D282 | R281Q | UCEC | 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 PPM1A |
| 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 |
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| 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 | R33 | R33H | -0.88572686 | D282 | R281Q | -0.80857766 | R33 | R33C | -0.62451186 | L214 | S216L | -0.39060889 |
| (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 PPM1A from PDB |
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| Differential gene expression and gene-gene network for PPM1A |
| 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 PPM1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PPM1A |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PPM1A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 1a6q | A | D282 | MN | MANGANESE(2+) | 3fxj | A | D282 | MN | MANGANESE(2+) | 3fxk | A | D282 | MN | MANGANESE(2+) | 3fxl | A | D282 | MN | MANGANESE(2+) | 3fxm | A | D282 | MN | MANGANESE(2+) | 3fxo | A | D282 | MN | MANGANESE(2+) | 4ra2 | A | D282 | MN | MANGANESE(2+) | 4raf | A | D282 | MN | MANGANESE(2+) | 4rag | A | D282 | PO4 | PHOSPHATE ION | 3fxo | A | L214 | FLC | CITRATE(3-) | 3fxl | A | R33 | FLC | CITRATE(3-) | 3fxm | A | R33 |
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| Conservation information for LBS of PPM1A |
| Multiple alignments for P35813 in multiple species |
| LBS | AA sequence | # species | Species | A63 | VYDGHAGSQVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D201 | ALGDFDYKCVH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D239 | IILACDGIWDV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D282 | YKGSRDNMSVI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D38 | RVEMEDAHTAV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D60 | FFAVYDGHAGS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E37 | WRVEMEDAHTA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G61 | FAVYDGHAGSQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H62 | AVYDGHAGSQV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L214 | GPTEQLVSPEP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N188 | MIQRVNGSLAV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R186 | SVMIQRVNGSL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R33 | SMQGWRVEMED | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y202 | LGDFDYKCVHG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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