B4GALT1 - beta-1,4-galactosyltransferase 1 Gene

Homo sapiens

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

Gene ID: 2683 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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%

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70289	Bovin beta-1,4-galactosyltransferase 1 (Y289L)		/	Unkown
HY-E70046	β-1,4-Galactosyltransferase, neisseria meningitides		90.00%	Unkown
HY-E70285	beta-1,4-Galactosyltransferase 1 (Y285L)		/	Unkown
HY-RS01319	B4GALT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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