B4GALT1 Gene

HGNC Family	Glycosyltransferases
Name	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
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. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Beta‐1,4‐galactosyltransferase 1 (B4GALT1) is a glycosyltransferase that catalyzes the transfer of galactose in a β1,4 linkage to terminal N‐acetylglucosamine residues on N‐linked glycoproteins. This enzymatic activity is central to the formation and remodeling of complex glycan structures that modulate protein folding, stability, cell–cell adhesion, and signal transduction.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Several studies have demonstrated that B4GALT1 expression is subject to multifaceted regulation in both physiological and pathological contexts. In breast cancer cells, for example, estrogen stimulation rapidly induces B4GALT1 expression through direct binding of estrogen receptor‐α to estrogen response elements in its promoter; the induced enzyme localizes to both intracellular compartments and the plasma membrane where its catalytic activity contributes to the formation of Galβ1–4GlcNAc groups that are critical for cell proliferation (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In lung cancer cells, enhanced B4GALT1 expression—mediated by transcription factors such as E1AF and activated downstream of growth factor signals—has been linked to increased cell adhesion, migration, and invasion, suggesting a role in metastatic progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Studies addressing the intracellular dynamics of glycosyltransferases reveal that B4GALT1 cycles between the Golgi cisternae and the trans‐Golgi network, with its cytoplasmic tail providing necessary signals for proper localization, an essential feature for precise glycan synthesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Epigenetic mechanisms also influence B4GALT1 expression. For instance, promoter hypermethylation of the B4GALT1 gene in colorectal cancer is associated with downregulation of its mRNA, suggesting that altered B4GALT1 expression may serve as a biomarker for an invasive phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In pancreatic ductal adenocarcinoma, increased B4GALT1 expression correlates with poor clinical outcome, including larger tumor size, lymph node metastasis, enhanced chemoresistance, and overall disease progression; these observations further underscore the enzyme’s potential as a therapeutic target."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its role in tumor biology, inflammatory signals can modulate B4GALT1 expression. For example, tumor necrosis factor‐α (TNFα) promotes an increase in both the mRNA stability and catalytic activity of B4GALT1 in endothelial cells, leading to augmented glycosylation of newly synthesized glycoproteins that may influence leukocyte adhesion during inflammation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of immune cell differentiation, B4GALT1 has been identified as an OCA‐B–dependent gene in B cells, implying a role in antigen‐driven B cell maturation and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Lastly, the enzyme has been used as a specific substrate to monitor kinase activity in cell cycle regulatory studies; for instance, cyclin D3 was shown to enhance the kinase activity of p58(PITSLRE) using B4GALT1 as a substrate, thereby linking glycosylation processes to cell cycle control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings establish B4GALT1 as a multifunctional enzyme whose activity and regulation impact diverse biological processes including hormonal signaling, cancer progression, inflammatory responses, and immune cell differentiation.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dong-Yu Wang, Roberta Fulthorpe, Steven N Liss, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of estrogen-responsive genes by complementary deoxyribonucleic acid microarray and characterization of a novel early estrogen-induced gene: EEIG1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Endocrinol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/me.2003-0202"}], "href": "https://doi.org/10.1210/me.2003-0202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14605097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14605097"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hee-Jung Choi, Tae-Wook Chung, Cheorl-Ho Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Estrogen induced β-1,4-galactosyltransferase 1 expression regulates proliferation of human breast cancer MCF-7 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2012.08.140"}], "href": "https://doi.org/10.1016/j.bbrc.2012.08.140"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22982306"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22982306"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xiaoyu Zhu, Jianhai Jiang, Hailian Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elevated beta1,4-galactosyltransferase I in highly metastatic human lung cancer cells. Identification of E1AF as important transcription activator."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M413631200"}], "href": "https://doi.org/10.1074/jbc.M413631200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15611127"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15611127"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Beat E Schaub, Bea Berger, Eric G Berger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e06-08-0665"}], "href": "https://doi.org/10.1091/mbc.e06-08-0665"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17021253"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17021253"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Maria Luana Poeta, Emanuela Massi, Paola Parrella, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant promoter methylation of beta-1,4 galactosyltransferase 1 as potential cancer-specific biomarker of colorectal tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.21998"}], "href": "https://doi.org/10.1002/gcc.21998"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22927297"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22927297"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yitian Chen, Liangping Su, Cheng Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "p110"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": "."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.canlet.2020.12.006"}], "href": "https://doi.org/10.1016/j.canlet.2020.12.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33309857"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33309857"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Juan Jesús García-Vallejo, Willem van Dijk, Irma van Die, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tumor necrosis factor-alpha up-regulates the expression of beta1,4-galactosyltransferase I in primary human endothelial cells by mRNA stabilization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M410093200"}], "href": "https://doi.org/10.1074/jbc.M410093200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15668241"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15668241"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Unkyu Kim, Rachael Siegel, Xiaodi Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of transcription coactivator OCA-B-dependent genes involved in antigen-dependent B cell differentiation by cDNA array analyses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1033108100"}], "href": "https://doi.org/10.1073/pnas.1033108100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12857960"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12857960"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Songwen Zhang, Mingmei Cai, Si Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of p58(PITSLRE), a G2/M-specific protein kinase, with cyclin D3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M202179200"}], "href": "https://doi.org/10.1074/jbc.M202179200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12082095"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12082095"}]}]}]}
Synonyms	B4GAL-T1, CDG2D, GGTB2, BETA4GAL-T1, GT1
Proteins	B4GT1_HUMAN
NCBI Gene ID	2683
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

B4GALT1 has 9,127 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 137 datasets.

Click the + buttons to view associations for B4GALT1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

B4GALT1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of B4GALT1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of B4GALT1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of B4GALT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of B4GALT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of B4GALT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of B4GALT1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of B4GALT1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of B4GALT1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of B4GALT1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of B4GALT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of B4GALT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with B4GALT1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with B4GALT1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of B4GALT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of B4GALT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of B4GALT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with B4GALT1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing B4GALT1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of B4GALT1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing B4GALT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing B4GALT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing B4GALT1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing B4GALT1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with B4GALT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with B4GALT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of B4GALT1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with B4GALT1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with B4GALT1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with B4GALT1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with B4GALT1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of B4GALT1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by B4GALT1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving B4GALT1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving B4GALT1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with B4GALT1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with B4GALT1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with B4GALT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with B4GALT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with B4GALT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with B4GALT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.