B4GALT1 - beta-1,4-galactosyltransferase 1 Gene

Also Known as GT1; GTB; CDG2D; GGTB2; B4GAL-T1; beta4Gal-T1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2683

About B4GALT1

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:33,104,077-33,185,089 (from NCBI)

This gene has 2 transcripts (splice variants), 279 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 45.3), gall bladder (RPKM 35.7) and 25 other tissues.

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]

B4GALT1 Products (4)

mRNA	Protein	Name
NM_001378495.1	NP_001365424.1	beta-1,4-galactosyltransferase 1 isoform 2
NM_001378496.1	NP_001365425.1	beta-1,4-galactosyltransferase 1 isoform 3
NM_001378497.1	NP_001365426.1	beta-1,4-galactosyltransferase 1 isoform 4
NM_001497.4	NP_001488.2	beta-1,4-galactosyltransferase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N-acetyllactosamine synthase activity	IDA IDA: Inferred from direct assay	33805	GOA
enables UDP-galactosyltransferase activity	IDA IDA: Inferred from direct assay	3917437	GOA
enables UDP-galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	34855475	GOA
enables alpha-tubulin binding	IDA IDA: Inferred from direct assay	7744867	GOA
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA IDA: Inferred from direct assay	33805	GOA
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	34855475	GOA
enables beta-tubulin binding	IPI IPI: Inferred from physical interaction	7744867	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	7744867	GOA
enables lactose synthase activity	EXP EXP: Inferred from Experiment	11419947	GOA
enables lactose synthase activity	IDA IDA: Inferred from direct assay	33805	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	16157350	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lipid metabolic process	IMP IMP: Inferred from mutant phenotype	34855475	GOA
involved in oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	2120039	GOA
involved in positive regulation of circulating fibrinogen levels	IMP IMP: Inferred from mutant phenotype	34855475	GOA
involved in protein N-linked glycosylation	IDA IDA: Inferred from direct assay	16157350	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	7744867	GOA
located in Golgi trans cisterna	IDA IDA: Inferred from direct assay	6121819	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	3917437	GOA
located in brush border membrane	IDA IDA: Inferred from direct assay	3917437	GOA
located in desmosome	IDA IDA: Inferred from direct assay	3917437	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	3917437	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B4GALT1 Protein Structure

Glyco_transf_7N

Glyco_transf_7C

0
100
200
300
398 a.a.

Protein Preferred Names	Protein Names
beta-1,4-galactosyltransferase 1	N-acetyllactosamine synthase

Recombinant B4GALT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7628	B4GALT1 Protein, Human (HEK293, Y285L, His)	P15291-1 (G44-S398, Y285L)	≥ 95%, as determined by reducing SDS-PAGE.

B4GALT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811132	B4GALT1 Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P89816	β-1,4-Gal-T1 Antibody (YA9160)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iid	CDG2D Congenital Disorder Of Glycosylation Type Iid Cdg Iid Cdgiid B4galt1-Cdg Cdg-Iid Congenital Disorder Of Glycosylation Type 2d Beta-1,4-Galactosyltransferase Deficiency Cdg Syndrome Type Iid Carbohydrate Deficient Glycoprotein Syndrome Type Iid Congenital Disorder Of Glycosylation 2d Glycosylation, Congenital Disorder Of, Type Iid Congenital Disorder Of Glycosylation, Type Iiid
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Tibialis Tendinitis
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Mgat2-Cdg Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
Congenital Disorder Of Glycosylation, Type Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70289	Bovin beta-1,4-galactosyltransferase 1 (Y289L)		/	Unkown
HY-E70285	beta-1,4-Galactosyltransferase 1 (Y285L)		/	Unkown
HY-E70046	β-1,4-Galactosyltransferase, neisseria meningitides		/	Unkown
HY-E70046A	Bovine beta-1,4-Galactosyltransferase		/	Unkown
HY-RS01319	B4GALT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18013	B4galt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24486	B4galt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	B4GALT1	VGNC	VGNC:26388
Macaca mulatta	B4GALT1	VGNC	VGNC:104877
Canis familiaris	B4GALT1	VGNC	VGNC:38349
Mus musculus	B4GALT1	MGD	MGI:95705
Felis catus	B4GALT1	VGNC	VGNC:68980
Rattus norvegicus	B4GALT1	RGD	RGD:620900
Others	B4GALT1	NCBI