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mutLBSgeneDB |
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| Gene summary for GLB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GLB1 |
| Gene name | galactosidase, beta 1 | |
| Synonyms | EBP|ELNR1|MPS4B | |
| Cytomap | UCSC genome browser: 3p21.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000404.2, NM_001079811.1,NM_001135602.1, | |
| Description | acid beta-galactosidasebeta-galactosidaseelastin receptor 1, 67kDalactase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 611458 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170266 | ||
| HPRD : 01975 | ||
| Vega : OTTHUMG00000155781 | ||
| Protein | UniProt: P16278 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GLB1 | |
| BioGPS: 2720 | ||
| Pathway | NCI Pathway Interaction Database: GLB1 | |
| KEGG: GLB1 | ||
| REACTOME: GLB1 | ||
| Pathway Commons: GLB1 | ||
| Context | iHOP: GLB1 | |
| ligand binding site mutation search in PubMed: GLB1 | ||
| UCL Cancer Institute: GLB1 | ||
| 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 GLB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P613 | S611L | HNSC | 1 | I505 | S503F | SKCM | 1 | N555 | N555D | UCEC | 1 | H523 | C521Y | 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 GLB1 |
| 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 | N555 | N555D | -0.85540414 | I505 | S503F | -0.36370281 | P613 | S611L | -0.10676166 |
| (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 GLB1 from PDB |
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| Differential gene expression and gene-gene network for GLB1 |
| 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 GLB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0085131 | Gangliosidosis, GM1 | 66 | Biomarker, GeneticVariation |
| umls:C0086652 | Mucopolysaccharidosis Type IVB | 26 | Biomarker, GeneticVariation |
| umls:C0268271 | GM1-GANGLIOSIDOSIS, TYPE I | 7 | Biomarker, GeneticVariation |
| umls:C0268272 | GM1-GANGLIOSIDOSIS, TYPE II | 3 | Biomarker, GeneticVariation |
| umls:C0026707 | Mucopolysaccharidosis IV | 3 | Biomarker |
| umls:C0268273 | Adult GM1 gangliosidosis | 2 | Biomarker, GeneticVariation |
| umls:C0005941 | Bone Diseases, Developmental | 1 | Biomarker |
| umls:C0010038 | Corneal Opacity | 1 | Biomarker |
| umls:C0011615 | Dermatitis, Atopic | 1 | Biomarker |
| umls:C0029422 | Osteochondrodysplasias | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GLB1 |
| 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 GLB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | D | H523 N555 P613 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | A | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | B | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | C | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | D | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3wf3 | C | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3wf3 | D | I505 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3thc | B | N555 P613 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3wf3 | B | N555 P613 |
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| Conservation information for LBS of GLB1 |
| Multiple alignments for P16278 in multiple species |
| LBS | AA sequence | # species | Species | A128 | GPYICAEWDMG | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | A128 | GPYICGEWDLG | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | A128 | GPYICAEWEMG | 1 | Homo sapiens | C127 | PGPYICAEWDM | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | C127 | PGPYICAEWEM | 1 | Homo sapiens | C127 | AGPYICGEWDL | 1 | Arabidopsis thaliana | C127 | VGPYICGEWDL | 1 | Oryza sativa subsp. japonica | D250 | GSNITDAFLSQ | 1 | Homo sapiens | D250 | GNNITQAFLVQ | 1 | Mus musculus | D250 | GTNLTAAFMLQ | 1 | Bos taurus | D250 | GANITAAFQIQ | 1 | Canis lupus familiaris | D250 | GDDPWPIFKLQ | 1 | Arabidopsis thaliana | D250 | GSNPWPIFQLQ | 1 | Oryza sativa subsp. japonica | E129 | PYICAEWDMGG | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | E129 | PYICGEWDLGG | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | E129 | PYICAEWEMGG | 1 | Homo sapiens | E188 | VQVENEYGSYF | 2 | Homo sapiens, Mus musculus | E188 | VQVENEYGSYL | 1 | Bos taurus | E188 | MQVENEYGSYF | 1 | Canis lupus familiaris | E188 | VQIENEYGSY- | 1 | Arabidopsis thaliana | E188 | VQIENEFGSF- | 1 | Oryza sativa subsp. japonica | E268 | PLINSEFYTGW | 2 | Homo sapiens, Mus musculus | E268 | PLVNSEFYTGW | 2 | Bos taurus, Canis lupus familiaris | E268 | PPLSSEFYTGW | 1 | Arabidopsis thaliana | E268 | APLSSEFYTGW | 1 | Oryza sativa subsp. japonica | H276 | TGWLDHWGQPH | 2 | Homo sapiens, Canis lupus familiaris | H276 | TGWLDHWGKPH | 1 | Mus musculus | H276 | TGWLDHWGQRH | 1 | Bos taurus | H276 | TGWLTHWGEKI | 1 | Arabidopsis thaliana | H276 | TGWLTHWGERI | 1 | Oryza sativa subsp. japonica | H523 | AVR-SHLGGWG | 1 | Homo sapiens | H523 | MVR-NHLWGRE | 1 | Mus musculus | H523 | AVR-SHLGTWG | 1 | Bos taurus | H523 | AVR-SHLGGWH | 1 | Canis lupus familiaris | H523 | LNQEPNLTFEM | 1 | Arabidopsis thaliana | H523 | VGNLSKLQLIM | 1 | Oryza sativa subsp. japonica | I126 | RPGPYICAEWD | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | I126 | RPGPYICAEWE | 1 | Homo sapiens | I126 | RAGPYICGEWD | 1 | Arabidopsis thaliana | I126 | RVGPYICGEWD | 1 | Oryza sativa subsp. japonica | I505 | TLSSNILTDWT | 1 | Homo sapiens | I505 | TINSTVLTNWT | 1 | Mus musculus | I505 | TLGSKILTNWE | 1 | Bos taurus | I505 | TLGSSILTNWM | 1 | Canis lupus familiaris | I505 | YLDGQILHGWK | 1 | Arabidopsis thaliana | I505 | EIDGIILRHWK | 1 | Oryza sativa subsp. japonica | L274 | FYTGWLDHWGQ | 3 | Homo sapiens, Bos taurus, Canis lupus familiaris | L274 | FYTGWLTHWGE | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | L274 | FYTGWLDHWGK | 1 | Mus musculus | M553 | -PAFYMGNFSI | 2 | Homo sapiens, Canis lupus familiaris | M553 | -PTFYVGNFSI | 1 | Mus musculus | M553 | -PTFYVGNFTI | 1 | Bos taurus | M553 | -PALFAGEFSI | 1 | Arabidopsis thaliana | M553 | EPAFYEGHFHI | 1 | Oryza sativa subsp. japonica | N187 | TVQVENEYGSY | 3 | Homo sapiens, Mus musculus, Bos taurus | N187 | TMQVENEYGSY | 1 | Canis lupus familiaris | N187 | MVQIENEYGSY | 1 | Arabidopsis thaliana | N187 | MVQIENEFGSF | 1 | Oryza sativa subsp. japonica | N247 | FGTGSNITDAF | 1 | Homo sapiens | N247 | FGTGNNITQAF | 1 | Mus musculus | N247 | FSPGTNLTAAF | 1 | Bos taurus | N247 | FGPGANITAAF | 1 | Canis lupus familiaris | N247 | FSTGDDPWPIF | 1 | Arabidopsis thaliana | N247 | FDTGSNPWPIF | 1 | Oryza sativa subsp. japonica | N321 | YWNGANS---- | 1 | Homo sapiens | N321 | YWNGANT---- | 1 | Mus musculus | N321 | YWNGANI---- | 1 | Bos taurus | N321 | YWNGANM---- | 1 | Canis lupus familiaris | N321 | FYNGANTGSEE | 1 | Arabidopsis thaliana | N321 | FYNGANTGQNE | 1 | Oryza sativa subsp. japonica | N498 | KGLVSNLTLSS | 1 | Homo sapiens | N498 | KGLISNMTINS | 1 | Mus musculus | N498 | KGLVSNLTLGS | 1 | Bos taurus | N498 | KGLISNLTLGS | 1 | Canis lupus familiaris | N498 | KGILSSVYLDG | 1 | Arabidopsis thaliana | N498 | KGILSSVEIDG | 1 | Oryza sativa subsp. japonica | N555 | AFYMGNFSIPS | 2 | Homo sapiens, Canis lupus familiaris | N555 | TFYVGNFSIPS | 1 | Mus musculus | N555 | TFYVGNFTIPS | 1 | Bos taurus | N555 | ALFAGEFSINS | 1 | Arabidopsis thaliana | N555 | AFYEGHFHIDS | 1 | Oryza sativa subsp. japonica | P613 | LMTSAPNTITV | 1 | Homo sapiens | P613 | LTTSAPNNITV | 1 | Mus musculus | P613 | LVTSTPNTIVV | 1 | Bos taurus | P613 | LVTSTPNTIMV | 1 | Canis lupus familiaris | P613 | L-KRGKNTLVV | 1 | Arabidopsis thaliana | P613 | L-KPGDNVIVI | 1 | Oryza sativa subsp. japonica | S497 | FKGLVSNLTLS | 1 | Homo sapiens | S497 | FKGLISNMTIN | 1 | Mus musculus | S497 | FKGLVSNLTLG | 1 | Bos taurus | S497 | FKGLISNLTLG | 1 | Canis lupus familiaris | S497 | DKGILSSVYLD | 1 | Arabidopsis thaliana | S497 | QKGILSSVEID | 1 | Oryza sativa subsp. japonica | T249 | TGSNITDAFLS | 1 | Homo sapiens | T249 | TGNNITQAFLV | 1 | Mus musculus | T249 | PGTNLTAAFML | 1 | Bos taurus | T249 | PGANITAAFQI | 1 | Canis lupus familiaris | T249 | TGDDPWPIFKL | 1 | Arabidopsis thaliana | T249 | TGSNPWPIFQL | 1 | Oryza sativa subsp. japonica | T615 | TSAPNTITVLE | 1 | Homo sapiens | T615 | TSAPNNITVLE | 1 | Mus musculus | T615 | TSTPNTIVVLE | 1 | Bos taurus | T615 | TSTPNTIMVLE | 1 | Canis lupus familiaris | T615 | KRGKNTLVVFE | 1 | Arabidopsis thaliana | T615 | KPGDNVIVIFE | 1 | Oryza sativa subsp. japonica | W273 | EFYTGWLDHWG | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | W273 | EFYTGWLTHWG | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | Y270 | INSEFYTGWLD | 2 | Homo sapiens, Mus musculus | Y270 | VNSEFYTGWLD | 2 | Bos taurus, Canis lupus familiaris | Y270 | LSSEFYTGWLT | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | Y306 | ANVNLYMFIGG | 2 | Mus musculus, Canis lupus familiaris | Y306 | ASVNLYMFIGG | 1 | Homo sapiens | Y306 | ANVNMYMFIGG | 1 | Bos taurus | Y306 | GSAVLYMVHGG | 1 | Arabidopsis thaliana | Y306 | GSAVLYMAHGG | 1 | Oryza sativa subsp. japonica | Y333 | PTSYDYDAPLS | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | Y333 | LTSYDYDAPIK | 1 | Arabidopsis thaliana | Y333 | LTSYDYDAPIR | 1 | Oryza sativa subsp. japonica | Y402 | PIKSLYPLTFI | 1 | Homo sapiens | Y402 | PVKSLYPLTFT | 1 | Mus musculus | Y402 | PIKSVYPLTFI | 1 | Bos taurus | Y402 | PINSLYPLTFI | 1 | Canis lupus familiaris | Y402 | VITSANPISME | 1 | Arabidopsis thaliana | Y402 | VAFSEQPLSME | 1 | Oryza sativa subsp. japonica | Y485 | MGRVNYGPYIF | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | Y485 | MGRVNYGAYIN | 1 | Homo sapiens | Y485 | MGRVNYGRFIN | 1 | Mus musculus | Y485 | MGRVNYGSSIN | 1 | Bos taurus | Y485 | MGRVNYGRYIN | 1 | Canis lupus familiaris | Y83 | NAIQTYVPWNF | 2 | Homo sapiens, Canis lupus familiaris | Y83 | NAIQMYVPWNF | 1 | Mus musculus | Y83 | NAIQTYVAWNF | 1 | Bos taurus | Y83 | NTIQVYVPWNL | 1 | Arabidopsis thaliana | Y83 | NTIQTYVPWNL | 1 | Oryza sativa subsp. japonica |
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