Gene Name	B4GALT1
Gene ID	2683
Gene Full Name	beta-1,4-galactosyltransferase 1
Gene Alias	B4GAL-T1|CDG2D|CLDLFIB|GGTB2|GT1|GTB|beta4Gal-T1
Transcripts	ENSG00000086062
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Golgi apparatus;Intracellular and membrane;
Membrane Info	Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins
Uniport_ID	P15291
HGNC ID	HGNC:924
OMIM ID	137060
Summary	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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
6001610	chr9	176	165	45	386	View
6007431	chr9	37	13	5	55	View
6025056	chr9	3	0	0	3	View

Data ID	Experiment type	Sample number	Platform
GSE52244	Expression array	15	[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]
GSE10789	Expression array	6	NCI/ATC Hs-OperonV3
GSE224047	RNA-seq	10	Illumina NextSeq 500 (Homo sapiens)
GSE189602	Methylation profiling (Array)	4	Infinium MethylationEPIC
GSE136189	Methylation profiling (Array)	40	Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip