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mutLBSgeneDB |
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| Gene summary for GBE1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GBE1 |
| Gene name | glucan (1,4-alpha-), branching enzyme 1 | |
| Synonyms | APBD|GBE|GSD4 | |
| Cytomap | UCSC genome browser: 3p12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000158.3, | |
| Description | 1,4-alpha-glucan-branching enzymeamylo-(1,4 to 1,6) transglucosidaseamylo-(1,4 to 1,6) transglycosylasebrancher enzymeglycogen branching enzymeglycogen-branching enzyme | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 607839 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000114480 | ||
| HPRD : 01985 | ||
| Vega : OTTHUMG00000158978 | ||
| Protein | UniProt: Q04446 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GBE1 | |
| BioGPS: 2632 | ||
| Pathway | NCI Pathway Interaction Database: GBE1 | |
| KEGG: GBE1 | ||
| REACTOME: GBE1 | ||
| Pathway Commons: GBE1 | ||
| Context | iHOP: GBE1 | |
| ligand binding site mutation search in PubMed: GBE1 | ||
| UCL Cancer Institute: GBE1 | ||
| 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 GBE1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K116 | K115N | COAD | 1 | K116 | Y114C | LUAD | 1 | R336 | R336K | 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 GBE1 |
| 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 | K116 | K115N | -1.160953 | K116 | Y114C | -0.95116073 | R336 | R336K | -0.54406957 |
| (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 GBE1 from PDB |
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| Differential gene expression and gene-gene network for GBE1 |
| 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 GBE1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017923 | Glycogen Storage Disease Type IV | 26 | Biomarker, GeneticVariation |
| umls:C1849722 | Polyglucosan Body Disease, Adult Form | 11 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GBE1 |
| 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 GBE1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLC | ALPHA-D-GLUCOSE | 5clw | B | K116 | GLC | ALPHA-D-GLUCOSE | 5clw | C | K116 | ACR | ACARBOSE | 5clt | A | R336 | ACR | ACARBOSE | 5clt | B | R336 | ACR | ACARBOSE | 5clt | C | R336 | GLC | ALPHA-D-GLUCOSE | 5clw | A | R336 | GLC | ALPHA-D-GLUCOSE | 5clw | B | R336 | GLC | ALPHA-D-GLUCOSE | 5clw | C | R336 |
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| Conservation information for LBS of GBE1 |
| Multiple alignments for Q04446 in multiple species |
| LBS | AA sequence | # species | Species | E63 | EN---EGG--- | 2 | Homo sapiens, Mus musculus | E63 | KY---EGG--- | 1 | Arabidopsis thaliana | E63 | KN---EGG--- | 1 | Arabidopsis thaliana | E63 | HAT-PDGSYQS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E63 | HSTNSEGRDTT | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | E63 | HAV--PGGRRS | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | G120 | -KLDYGKWELY | 1 | Homo sapiens | G120 | -RNEFGVWEIF | 1 | Arabidopsis thaliana | G120 | -RNDFGVWEIF | 1 | Arabidopsis thaliana | G120 | -KLEYGKWELY | 1 | Mus musculus | G120 | NKDEFGNFTIT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G120 | -RDEYGIFTTV | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | G120 | NKDEFGVFTGV | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | K116 | YPYK-KLDYGK | 1 | Homo sapiens | K116 | DIMT-RNEFGV | 1 | Arabidopsis thaliana | K116 | DVMA-RNDFGV | 1 | Arabidopsis thaliana | K116 | HPYK-KLEYGK | 1 | Mus musculus | K116 | HELKNKDEFGN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K116 | NEMQ-RDEYGI | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | K116 | HELQNKDEFGV | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | K121 | KLDYGKWELYI | 1 | Homo sapiens | K121 | RNEFGVWEIFL | 1 | Arabidopsis thaliana | K121 | RNDFGVWEIFL | 1 | Arabidopsis thaliana | K121 | KLEYGKWELYI | 1 | Mus musculus | K121 | KDEFGNFTITL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K121 | RDEYGIFTTVV | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | K121 | KDEFGVFTGVF | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | N62 | KNIGEN---EG | 1 | Homo sapiens | N62 | EEIDKY---EG | 1 | Arabidopsis thaliana | N62 | EEIDKN---EG | 1 | Arabidopsis thaliana | N62 | HDIGEN---EG | 1 | Mus musculus | N62 | YDITHAT-PDG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N62 | YKIEHSTNSEG | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | N62 | HDIEHAV--PG | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | P93 | CKEWAPGAEGV | 2 | Homo sapiens, Mus musculus | P93 | YREWAPGAKAA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P93 | YKEWAPNAERA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P93 | YKEWAPNAVRA | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | P93 | YREWAPNATRA | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | R336 | SWEVLRYLLSN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R336 | SWEILRFLLSN | 1 | Homo sapiens | R336 | SWEVLRFLLSN | 1 | Mus musculus | R336 | KFEVQRFLLAN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R336 | HFEVQRFLLAN | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | R336 | SFEVQRFLLAN | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | W91 | ITYREWAPGAK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | W91 | LYCKEWAPGAE | 1 | Homo sapiens | W91 | IYCKEWAPGAE | 1 | Mus musculus | W91 | ITYKEWAPNAE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W91 | IRYKEWAPNAV | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | W91 | ITYREWAPNAT | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) | Y119 | K-KLDYGKWEL | 1 | Homo sapiens | Y119 | T-RNEFGVWEI | 1 | Arabidopsis thaliana | Y119 | A-RNDFGVWEI | 1 | Arabidopsis thaliana | Y119 | K-KLEYGKWEL | 1 | Mus musculus | Y119 | KNKDEFGNFTI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y119 | Q-RDEYGIFTT | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | Y119 | QNKDEFGVFTG | 1 | Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056) |
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