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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| B4GALT1 | 2683 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1  | 9 | beta4Gal-T1  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22927297    | 2012 | Cell line : - Source : - Sample Type : CRC tumor and Normal tissue No. of Sample : 130 colorectal adenocarcinomas, 13 adenomas, and in paired normal tissue Stage : TNM Stage I-IV | Methylation specific PCR | Methylation | - | Glycogene B4GALT1 represent a valuable candidate biomarker of invasive phenotype of colorectal cancer. B4GALT1 methylation is a frequent and specific event in colorectal cancer and correlates with downregulation of mRNA expression. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | Beta 4-glycosyltransferases |
| Description | This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase.   | Chromosome | 9 |
| Location | 9p13 |
| Start | 33110637   |
| End | 33167358   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 56722   |
| OMIM ID | 137060    |
| HGNC ID | HGNC:924    |
| Unigene ID | Hs.272011    |
| Ensembl ID | ENSG00000086062    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | XM_005251440.3 |
|---|---|
| Exon | join(33..601,31935..32170,46753..46940,53481..53585, 53773..56722)   | mRNA Sequence |    Download   Select all |
| Length | 4214   |
CDS Information
| Location | join(190..601,31935..32170,46753..46940,53481..53585, 53773..53905) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | - |    
Protein Information
| Protein ID | NP_001488.2 |
|---|---|
| Protein Name | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
| Molecular Wt. (Da) | 43789 |
| Protein Sequence |    Download   Select all |
| Length | 398   |
| Uniprot ID | P16402 |    
| Ensembl Protein ID | ENSP00000244534   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 74 |
| S | Phosphorylation | 64 |
Enzyme Information
| EC | 2.4.1.22 |    
|---|---|
| Name | lactose synthase UDP-galactose---glucose galactosyltransferase N-acetyllactosamine synthase uridine diphosphogalactose-glucose galactosyltransferase lactose synthetase UDP-galactose:D-glucose 4-beta-D-galactotransferase UDP-galactose:D-glucose 4-beta-D-galactosyltransferase |
| Class | Transferases; Glycosyltransferases; Hexosyltransferases |
| Sysname | UDP-alpha-D-galactose:D-glucose 4-beta-D-galactosyltransferase   |
| Substrate | UDP-alpha-D-galactose [CPD:C00052]; D-glucose [CPD:C00031]   |
| Product | UDP [CPD:C00015]; lactose [CPD:C00243]   |
| Reaction (IUBMB) | ![]() |
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 985 |    CDC2L2 |    308 |    NP_277073.1 |    in vitro |    11506180    |
| 7277 |    TUBA4A |    1851 |    NP_005991.1 |    in vivo |    7744867    |
| 203068 |    TUBB |    1852 |    NP_001060.1 |    in vivo |    7744867    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Galactose metabolism |    hsa00052 |    
| Glycosaminoglycan biosynthesis - keratan sulfate |    hsa00533 |    
| Glycosphingolipid biosynthesis - lacto and neolacto series |    hsa00601 |    
| Metabolic pathways |    hsa01100 |    
| N-Glycan biosynthesis |    hsa00510 |    
| Other types of O-glycan biosynthesis |    hsa00514 |    
Structure Information
| PDB ID | 2AE7 |
|---|---|
| Resolution | 2 |
| Method | ?? X-RAY DIFFRACTION |
| Chains | A, B,   |
| Molecule | Beta-1,4-galactosyltransferase 1   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00899 | 175-393  | b4GalT |
| cl11394 | 175-393  | Glyco_tranf_GTA_type superfamily |
| pfam13733 | 130-262  | Glyco_transf_7N |
| cl15817 | 130-262  | Glyco_transf_7N superfamily |
| pfam02709 | 267-337  | Glyco_transf_7C |
| cd06420 | 219-325  | GT2_Chondriotin_Pol_N |
| cd00761 | 180-330  | Glyco_tranf_GTA_type |
| TIGR04440 | 177-241  | glyco_TIGR04440 |
| pfam10111 | 212-331  | Glyco_tranf_2_2 |
| pfam15449 | 42-135  | Retinal |
| PTZ00118 | 162-197  | PTZ00118 |
Ontology Information
| HPRD ID | 3889 |    
|---|---|
| Molecular Class | Enzyme: Galactosyltransferase |
| Molecular Function | Molecular function unknown (GO:0005554) |
| Biological Process | Carbohydrate metabolism (GO:0005975)   |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| P15291 | DB00141 | N-Acetyl-D-glucosamine | SmallMoleculeDrug |
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    

