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mutLBSgeneDB |
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| Gene summary for B3GAT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | B3GAT1 |
| Gene name | beta-1,3-glucuronyltransferase 1 | |
| Synonyms | CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1 | |
| Cytomap | UCSC genome browser: 11q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018644.3, NM_054025.2, | |
| Description | LEU7 antigenUDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferasegalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1glcUAT-Pglucuronosyltransferase P | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 151290 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109956 | ||
| HPRD : 06969 | ||
| Vega : OTTHUMG00000167180 | ||
| Protein | UniProt: Q9P2W7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_B3GAT1 | |
| BioGPS: 27087 | ||
| Pathway | NCI Pathway Interaction Database: B3GAT1 | |
| KEGG: B3GAT1 | ||
| REACTOME: B3GAT1 | ||
| Pathway Commons: B3GAT1 | ||
| Context | iHOP: B3GAT1 | |
| ligand binding site mutation search in PubMed: B3GAT1 | ||
| UCL Cancer Institute: B3GAT1 | ||
| 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 B3GAT1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R313 | R313Q | LUAD | 1 | I253 | I253T | OV | 1 | R165 | P164S | SKCM | 1 | G280 | G280R | SKCM | 1 | E228 | E228K | SKCM | 1 | E228 | A229V | 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 B3GAT1 |
| 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 | G280 | G280R | 0.33117426 | R165 | P164S | -1.4639329 | I253 | I253T | -1.3384776 | E228 | E228K | -1.0702272 | E228 | A229V | -0.56037484 | R313 | R313Q | -0.55430507 |
| (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 B3GAT1 from PDB |
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| Differential gene expression and gene-gene network for B3GAT1 |
| 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 B3GAT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for B3GAT1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01694 | D-tartaric acid | Small molecule |  |
| Experimental | DB03435 | Uridine-5'-Diphosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of B3GAT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GAL | BETA-D-GALACTOSE | 1v84 | A | E228 I253 | GAL | BETA-D-GALACTOSE | 1v84 | B | E228 I253 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1v84 | B | G280 | UDP | URIDINE-DIPHOSPHATE | 1v83 | A | R165 R313 | UDP | URIDINE-DIPHOSPHATE | 1v83 | B | R165 R313 | UDP | URIDINE-DIPHOSPHATE | 1v84 | A | R165 R313 | UDP | URIDINE-DIPHOSPHATE | 1v84 | B | R165 R313 | MN | MANGANESE(2+) | 1v83 | A | R313 | MN | MANGANESE(2+) | 1v83 | B | R313 | MN | MANGANESE(2+) | 1v84 | A | R313 | MN | MANGANESE(2+) | 1v84 | B | R313 |
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| Conservation information for LBS of B3GAT1 |
| Multiple alignments for Q9P2W7 in multiple species |
| LBS | AA sequence | # species | Species | D122 | WLVVEDAPRRT | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | D195 | VVYFADDDNTY | 3 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus | D195 | VVYFADDDNPY | 1 | Pan troglodytes | D196 | VYFADDDNTYS | 3 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus | D196 | VYFADDDNPYS | 1 | Pan troglodytes | D197 | YFADDDNTYSL | 3 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus | D197 | YFADDDNPYSL | 1 | Pan troglodytes | D254 | RPFAIDMAGFA | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | E228 | GGLRYEAPRVN | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | E284 | KGGYQESSLLR | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | F245 | GWKTVFDPHRP | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | G166 | PRIPRGTMQRN | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | G223 | PVAFVGGLRYE | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | G224 | VAFVGGLRYEA | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | G280 | LRGVKGGYQES | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | G281 | RGVKGGYQESS | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | H311 | KILVWHTRTEK | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | I253 | HRPFAIDMAGF | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | N198 | FADDDNTYSLE | 3 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus | N198 | FADDDNPYSLE | 1 | Pan troglodytes | P91 | IHVVTPTYSRP | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | R165 | DPRIPRGTMQR | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | R170 | RGTMQRNLALR | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | R249 | VFDPHRPFAID | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | R313 | LVWHTRTEKPV | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | T92 | HVVTPTYSRPV | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus | Y93 | VVTPTYSRPVQ | 4 | Homo sapiens, Canis lupus familiaris, Pan troglodytes, Rattus norvegicus |
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