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mutLBSgeneDB |
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| Gene summary for B4GALT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | B4GALT1 |
| Gene name | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | |
| Synonyms | B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1 | |
| Cytomap | UCSC genome browser: 9p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001497.3, | |
| Description | UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1beta-1,4-GalTase 1beta-1,4-galactosyltransferase 1glycoprotein-4-beta-galactosyltransferase 2lactose synthase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 137060 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000086062 | ||
| HPRD : 00659 | ||
| Vega : OTTHUMG00000019764 | ||
| Protein | UniProt: P15291 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_B4GALT1 | |
| BioGPS: 2683 | ||
| Pathway | NCI Pathway Interaction Database: B4GALT1 | |
| KEGG: B4GALT1 | ||
| REACTOME: B4GALT1 | ||
| Pathway Commons: B4GALT1 | ||
| Context | iHOP: B4GALT1 | |
| ligand binding site mutation search in PubMed: B4GALT1 | ||
| UCL Cancer Institute: B4GALT1 | ||
| 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:0006487 | protein N-linked glycosylation | 16157350 | GO:0009312 | oligosaccharide biosynthetic process | 2120039 |
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| Ligand binding site mutations for B4GALT1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P183 | P183L | BRCA | 1 | R342 | I341V | COAD | 1 | F356 | D357E | STAD | 1 | R185 | R185H | 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 B4GALT1 |
| 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 | R342 | I341V | -1.2736822 | R185 | R185H | -1.0993504 | P183 | P183L | -0.53432138 | F356 | D357E | -0.42983911 |
| (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 B4GALT1 from PDB |
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| Differential gene expression and gene-gene network for B4GALT1 |
| 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 B4GALT1 |
| 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 B4GALT1 |
| 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 |
| Approved|nutraceutical | DB00141 | N-Acetyl-D-glucosamine | Small molecule |  |
| Experimental | DB02696 | 6-Aminohexyl-Uridine-C1,5'-Diphosphate | Small molecule |  |
| Experimental | DB03013 | Di(N-Acetyl-D-Glucosamine) | Small molecule |  |
| Experimental | DB03501 | Uridine Diphosphate Galactose | Small molecule |  |
| Experimental | DB03685 | Uridine-5'-Monophosphate | Small molecule |  |
| Experimental | DB03814 | 2-(N-Morpholino)-Ethanesulfonic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of B4GALT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MAN | ALPHA-D-MANNOSE | 2ae7 | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2ae7 | B | F356 | MAN | ALPHA-D-MANNOSE | 2ae7 | B | F356 | MAN | ALPHA-D-MANNOSE | 2aec | A | F356 | MAN | ALPHA-D-MANNOSE | 2aec | B | F356 | MAN | ALPHA-D-MANNOSE | 2aec | C | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2aes | A | F356 | MAN | ALPHA-D-MANNOSE | 2aes | A | F356 | BMA | BETA-D-MANNOSE | 2aes | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2aes | B | F356 | BMA | BETA-D-MANNOSE | 2aes | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2aes | C | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2agd | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2agd | B | F356 | CTO | TRIACETYLCHITOTRIOSE | 2ah9 | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3ee5 | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3ee5 | C | F356 | GAL | BETA-D-GALACTOSE | 4ee3 | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4ee3 | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4ee4 | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4ee4 | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4ee5 | B | F356 | GAL | BETA-D-GALACTOSE | 4eea | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4eea | A | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4eea | B | F356 | BBV | BENZYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4eeo | A | F356 | BBV | BENZYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4eeo | B | F356 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4eeo | B | F356 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ae7 | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ae7 | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ae7 | C | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aec | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aec | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aec | C | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aes | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aes | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2aes | C | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2agd | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2agd | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ah9 | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ah9 | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2ah9 | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 2fyb | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 3ee5 | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 3ee5 | B | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 3ee5 | C | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 4ee3 | A | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 4ee3 | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee4 | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee4 | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee4 | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee5 | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee5 | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4ee5 | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eea | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eea | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eea | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeg | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeg | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeg | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eem | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eem | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eem | C | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeo | A | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeo | B | P183 R185 | UDP | URIDINE-DIPHOSPHATE | 4eeo | C | P183 R185 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 2agd | C | P183 R185 R342 | UDH | 6-AMINOHEXYL-URIDINE-C1,5'-DIPHOSPHATE | 4ee3 | C | P183 R185 R342 |
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| Conservation information for LBS of B4GALT1 |
| Multiple alignments for P15291 in multiple species |
| LBS | AA sequence | # species | Species | D248 | CFVFSDVDLIP | 3 | Homo sapiens, Bos taurus, Mus musculus | D250 | VFSDVDLIPMN | 2 | Homo sapiens, Bos taurus | D250 | VFSDVDLIPMD | 1 | Mus musculus | D314 | GWGGEDDDIFN | 2 | Homo sapiens, Mus musculus | D314 | GWGGEDDDIYN | 1 | Bos taurus | D315 | WGGEDDDIFNR | 2 | Homo sapiens, Mus musculus | D315 | WGGEDDDIYNR | 1 | Bos taurus | D346 | IRHSRDKKNEP | 3 | Homo sapiens, Bos taurus, Mus musculus | F184 | AIIIPFRNRQE | 3 | Homo sapiens, Bos taurus, Mus musculus | F222 | AGDTIFNRAKL | 1 | Homo sapiens | F222 | AGESMFNRAKL | 1 | Bos taurus | F222 | AGDTMFNRAKL | 1 | Mus musculus | F276 | VAMDKFGFSLP | 3 | Homo sapiens, Bos taurus, Mus musculus | F356 | PNPQRFDRIAH | 3 | Homo sapiens, Bos taurus, Mus musculus | G311 | NYWGWGGEDDD | 3 | Homo sapiens, Bos taurus, Mus musculus | G312 | YWGWGGEDDDI | 3 | Homo sapiens, Bos taurus, Mus musculus | H343 | CRMIRHSRDKK | 3 | Homo sapiens, Bos taurus, Mus musculus | I359 | QRFDRIAHTKE | 3 | Homo sapiens, Bos taurus, Mus musculus | K275 | SVAMDKFGFSL | 3 | Homo sapiens, Bos taurus, Mus musculus | N349 | SRDKKNEPNPQ | 3 | Homo sapiens, Bos taurus, Mus musculus | P183 | VAIIIPFRNRQ | 3 | Homo sapiens, Bos taurus, Mus musculus | Q284 | SLPYVQYFGGV | 3 | Homo sapiens, Bos taurus, Mus musculus | R185 | IIIPFRNRQEH | 3 | Homo sapiens, Bos taurus, Mus musculus | R187 | IPFRNRQEHLK | 3 | Homo sapiens, Bos taurus, Mus musculus | R342 | RCRMIRHSRDK | 2 | Homo sapiens, Mus musculus | R342 | KCRMIRHSRDK | 1 | Bos taurus | R345 | MIRHSRDKKNE | 3 | Homo sapiens, Bos taurus, Mus musculus | R355 | EPNPQRFDRIA | 3 | Homo sapiens, Bos taurus, Mus musculus | S344 | RMIRHSRDKKN | 3 | Homo sapiens, Bos taurus, Mus musculus | V249 | FVFSDVDLIPM | 3 | Homo sapiens, Bos taurus, Mus musculus | W310 | NNYWGWGGEDD | 3 | Homo sapiens, Bos taurus, Mus musculus | Y282 | GFSLPYVQYFG | 3 | Homo sapiens, Bos taurus, Mus musculus | Y285 | LPYVQYFGGVS | 3 | Homo sapiens, Bos taurus, Mus musculus |
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