mutLBSgeneDB |
Gene summary for PEX5 |
Gene summary |
Basic gene Info. | Gene symbol | PEX5 |
Gene name | peroxisomal biogenesis factor 5 | |
Synonyms | PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1 | |
Cytomap | UCSC genome browser: 12p13.31 | |
Type of gene | protein-coding | |
RefGenes | NM_000319.4, NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1, NM_001300789.1, | |
Description | PTS1 receptorperoxin-5peroxisomal C-terminal targeting signal import receptorperoxisomal targeting signal 1 (SKL type) receptorperoxisomal targeting signal 1 receptorperoxisomal targeting signal import receptorperoxisomal targeting signal receptor 1 | |
Modification date | 20141222 | |
dbXrefs | MIM : 600414 | |
HGNC : HGNC | ||
Ensembl : ENSG00000139197 | ||
HPRD : 02684 | ||
Vega : OTTHUMG00000168175 | ||
Protein | UniProt: P50542 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PEX5 | |
BioGPS: 5830 | ||
Pathway | NCI Pathway Interaction Database: PEX5 | |
KEGG: PEX5 | ||
REACTOME: PEX5 | ||
Pathway Commons: PEX5 | ||
Context | iHOP: PEX5 | |
ligand binding site mutation search in PubMed: PEX5 | ||
UCL Cancer Institute: PEX5 | ||
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:0006625 | protein targeting to peroxisome | 21375735 | GO:0016560 | protein import into peroxisome matrix, docking | 21976670 | GO:0016561 | protein import into peroxisome matrix, translocation | 11336669 | GO:0051262 | protein tetramerization | 12456682 | GO:1901094 | negative regulation of protein homotetramerization | 21976670 |
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Ligand binding site mutations for PEX5 |
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 | Y560 | R559H | COAD | 1 | N568 | L569F | SKCM | 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 PEX5 |
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 | Y560 | R559H | -1.1648284 | N568 | L569F | -0.98549778 |
(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 PEX5 from PDB |
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Differential gene expression and gene-gene network for PEX5 |
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 PEX5 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0043459 | Zellweger Syndrome | 4 | Biomarker, GeneticVariation |
umls:C3550234 | PEROXISOME BIOGENESIS DISORDER 2B | 1 | Biomarker, GeneticVariation |
umls:C0282525 | Neonatal adrenoleukodystrophy | 1 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PEX5 |
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 PEX5 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of PEX5 |
Multiple alignments for P50542 in multiple species |
LBS | AA sequence | # species | Species | A530 | WNKLGATLANG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | A533 | LGATLANGNQS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A533 | LGATLANGNRS | 1 | Gallus gallus | D505 | LSGEYDKAVDC | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D505 | LSGEYEKAVDC | 1 | Gallus gallus | D509 | YDKAVDCFTAA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D509 | YEKAVDCFSAA | 1 | Gallus gallus | E383 | TQAENEQELLA | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | E540 | GNQSEEAVAAY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E540 | GNRSEEAVAAY | 1 | Gallus gallus | I564 | RYNLGISCINL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | K506 | SGEYDKAVDCF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K506 | SGEYEKAVDCF | 1 | Gallus gallus | K527 | YLLWNKLGATL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K527 | HLLWNKLGATL | 1 | Gallus gallus | K527 | YLMWNKLGATL | 1 | Mus musculus | L609 | WSTLRLALSML | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L609 | WSTLRMALSML | 1 | Gallus gallus | N415 | AVSFTNESLQR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N415 | AVSFTNESLQK | 1 | Gallus gallus | N499 | LGVLFNLSGEY | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | N526 | DYLLWNKLGAT | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | N526 | DHLLWNKLGAT | 1 | Gallus gallus | N526 | DYLMWNKLGAT | 1 | Mus musculus | N534 | GATLANGNQSE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N534 | GATLANGNRSE | 1 | Gallus gallus | N561 | IRSRYNLGISC | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | N568 | GISCINLGAHR | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | Q537 | LANGNQSEEAV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q537 | LANGNRSEEAV | 1 | Gallus gallus | R557 | QPGYIRSRYNL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | T414 | LAVSFTNESLQ | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | T531 | NKLGATLANGN | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | T606 | ENIWSTLRLAL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T606 | DNIWSTLRMAL | 1 | Gallus gallus | V411 | LMALAVSFTNE | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | V508 | EYDKAVDCFTA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V508 | EYEKAVDCFSA | 1 | Gallus gallus | Y545 | EAVAAYRRALE | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | Y560 | YIRSRYNLGIS | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus |
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