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mutLBSgeneDB |
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| Gene summary for PPIL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PPIL1 |
| Gene name | peptidylprolyl isomerase (cyclophilin)-like 1 | |
| Synonyms | CYPL1|PPIase|hCyPX | |
| Cytomap | UCSC genome browser: 6p21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016059.4, | |
| Description | cyclophilin-related gene 1peptidyl-prolyl cis-trans isomerasepeptidyl-prolyl cis-trans isomerase-like 1rotamase PPIL1 | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 601301 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137168 | ||
| HPRD : 03194 | ||
| Vega : OTTHUMG00000014612 | ||
| Protein | UniProt: Q9Y3C6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PPIL1 | |
| BioGPS: 51645 | ||
| Pathway | NCI Pathway Interaction Database: PPIL1 | |
| KEGG: PPIL1 | ||
| REACTOME: PPIL1 | ||
| Pathway Commons: PPIL1 | ||
| Context | iHOP: PPIL1 | |
| ligand binding site mutation search in PubMed: PPIL1 | ||
| UCL Cancer Institute: PPIL1 | ||
| 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 PPIL1 |
| 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 | G104 | P105S | COAD | 1 | N102 | N102S | SKCM | 1 | H126 | T127S | 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 PPIL1 |
| 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 | G104 | P105S | -1.2719938 | N102 | N102S | -0.86030473 | H126 | T127S | -0.81727747 |
| (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 PPIL1 from PDB |
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| Differential gene expression and gene-gene network for PPIL1 |
| 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 PPIL1 |
| 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 PPIL1 |
| 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 PPIL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (DAL,MLE,MLE,MVA,BMT,ABA,SAR,MLE,VAL,MLE,ALA) | 2x7k | A | N102 G104 H126 |
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| Conservation information for LBS of PPIL1 |
| Multiple alignments for Q9Y3C6 in multiple species |
| LBS | AA sequence | # species | Species | A101 | GILAMANAGPD | 3 | Homo sapiens, Bos taurus, Mus musculus | A101 | GILSMANAGPN | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana | A101 | GVLSMANAGPN | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | A103 | LAMANAGPDTN | 3 | Homo sapiens, Bos taurus, Mus musculus | A103 | LSMANAGPNTN | 3 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | F113 | NGSQFFVTLAP | 3 | Homo sapiens, Bos taurus, Mus musculus | F113 | NGSQFFITLAP | 2 | Arabidopsis thaliana, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | F113 | NSSQFFITLAP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F60 | RIIKDFMIQGG | 4 | Homo sapiens, Bos taurus, Mus musculus, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | F60 | RVIPDFVIQGG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F60 | RIVKDFIVQGG | 1 | Arabidopsis thaliana | G104 | AMANAGPDTNG | 3 | Homo sapiens, Bos taurus, Mus musculus | G104 | SMANAGPNTNG | 2 | Arabidopsis thaliana, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | G104 | SMANAGPNTNS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G71 | DPTGTGRGGAS | 3 | Homo sapiens, Bos taurus, Mus musculus | G71 | DPTGTGRGGTS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G71 | DPTGTGRGGES | 1 | Arabidopsis thaliana | G71 | DPTGTGRGGSS | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | H126 | WLDGKHTIFGR | 5 | Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Bos taurus, Mus musculus, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | H126 | SLDGKHTIFGR | 1 | Arabidopsis thaliana | I57 | KFHRIIKDFMI | 3 | Homo sapiens, Bos taurus, Mus musculus | I57 | IFHRVIPDFVI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I57 | LFHRIVKDFIV | 1 | Arabidopsis thaliana | I57 | VFHRIIKDFMI | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | L122 | APTQWLDGKHT | 3 | Homo sapiens, Bos taurus, Mus musculus | L122 | APTPWLDGKHT | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | L122 | APQPSLDGKHT | 1 | Arabidopsis thaliana | M61 | IIKDFMIQGGD | 4 | Homo sapiens, Bos taurus, Mus musculus, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | M61 | VIPDFVIQGGD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M61 | IVKDFIVQGGD | 1 | Arabidopsis thaliana | N102 | ILAMANAGPDT | 3 | Homo sapiens, Bos taurus, Mus musculus | N102 | ILSMANAGPNT | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana | N102 | VLSMANAGPNT | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | Q111 | DTNGSQFFVTL | 3 | Homo sapiens, Bos taurus, Mus musculus | Q111 | NTNGSQFFITL | 2 | Arabidopsis thaliana, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | Q111 | NTNSSQFFITL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q63 | KDFMIQGGDPT | 4 | Homo sapiens, Bos taurus, Mus musculus, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | Q63 | PDFVIQGGDPT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q63 | KDFIVQGGDPT | 1 | Arabidopsis thaliana | R55 | GTKFHRIIKDF | 3 | Homo sapiens, Bos taurus, Mus musculus | R55 | GVIFHRVIPDF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R55 | NVLFHRIVKDF | 1 | Arabidopsis thaliana | R55 | STVFHRIIKDF | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | W121 | LAPTQWLDGKH | 3 | Homo sapiens, Bos taurus, Mus musculus | W121 | LAPTPWLDGKH | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | W121 | LAPQPSLDGKH | 1 | Arabidopsis thaliana |
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