B4GALT3 - beta-1,4-galactosyltransferase 3 Gene

Homo sapiens

Also known as beta4Gal-T3

Gene ID: 8703 | Gene type: protein coding

About B4GALT3

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,171,310-161,177,968 (from NCBI)

This gene has 13 transcripts (splice variants), 229 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) 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 encodes an Enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

B4GALT3 Products(3)

mRNA	Protein	Name
NM_001199873.1	NP_001186802.1	beta-1,4-galactosyltransferase 3
NM_001199874.1	NP_001186803.1	beta-1,4-galactosyltransferase 3
NM_003779.4	NP_003770.1	beta-1,4-galactosyltransferase 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables galactosyltransferase activity	IDA IDA: Inferred from direct assay	9405390	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in galactosylceramide biosynthetic process	IDA IDA: Inferred from direct assay	9405390	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

B4GALT3 Protein Structure

Glyco_transf_7N

Glyco_transf_7C

0
100
200
300
393 a.a.

Protein Preferred Names

Protein Names

beta-1,4-galactosyltransferase 3

N-acetyllactosamine synthase

Recombinant B4GALT3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7629	B4GALT3 Protein, Human (HEK293, His)	O60512 (R32-S392)	≥95%

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z	Charcot-Marie-Tooth Disease Axonal Type 2z
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z	Charcot-Marie-Tooth Neuropathy, Type 2z
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z	Charcot-Marie-Tooth Neuropathy Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation
Charcot-Marie-Tooth Disease 2z	Charcot-Marie-Tooth Disease, Type 2z

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01321	B4GALT3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	B4GALT3	VGNC	VGNC:68988
Rattus norvegicus	B4GALT3	RGD	RGD:1359221
Canis familiaris	B4GALT3	VGNC	VGNC:38351
Macaca mulatta	B4GALT3	VGNC	VGNC:70210
Mus musculus	B4GALT3	MGD	MGI:1928767
Bos taurus	B4GALT3	VGNC	VGNC:26390
Others	B4GALT3	NCBI

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