B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

Homo sapiens

Also known as B4Gal-T4; beta4Gal-T4

Gene ID: 8702 | Gene type: protein coding

About B4GALT4

Cytogenetic location: 3q13.32 Genomic coordinates (GRCh38): 3:119,211,742-119,240,878 (from NCBI)

This gene has 20 transcripts (splice variants), 233 orthologues and 6 paralogues. Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 15.3) 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. The Enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

B4GALT4 Products(2)

mRNA	Protein	Name
NM_003778.4	NP_003769.1	beta-1,4-galactosyltransferase 4
NM_212543.2	NP_997708.1	beta-1,4-galactosyltransferase 4

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	9792633	GOA
enables UDP-galactosyltransferase activity	IDA IDA: Inferred from direct assay	9792633	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32827291	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in keratan sulfate biosynthetic process	IDA IDA: Inferred from direct assay	17690104	GOA
involved in keratan sulfate biosynthetic process	IMP IMP: Inferred from mutant phenotype	32827291	GOA
involved in lactosylceramide biosynthetic process	IDA IDA: Inferred from direct assay	9792633	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	32827291	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

B4GALT4 Protein Structure

Glyco_transf_7N

Glyco_transf_7C

0
100
200
300
344 a.a.

Protein Preferred Names

Protein Names

beta-1,4-galactosyltransferase 4

N-acetyllactosamine synthase

Recombinant B4GALT4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7630	B4GALT4 Protein, Human (HEK293, His)	O60513 (Q39-A344)	≥95%

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type	Ehlers-Danlos Syndrome, Progeroid Type, 2
EDSSPD2	Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly	Edsp2, Formerly
Defective Biosynthesis Of Proteodermatan Sulfate	Xgpt Deficiency
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Speds	B3galt6-Related Spondylodysplastic Eds
Beta3galt6-Deficient Eds	Ehlers-Danlos Syndrome Progeroid Type 2
Speds-B3galt6	Edsp2
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2	Ehlers-Danlos Syndrome, Progeroid Form

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	Xgpt Deficiency
EDSSPD1	Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
Edssla	Proteodermatan Sulfate, Defective Biosynthesis Of
Pds, Defective Biosynthesis Of	Dermatan Sulfate Proteoglycan
Galactosyltransferase I Deficiency	Ehlers-Danlos Syndrome Spondylodysplastic Type 1
Spondylodysplastic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly
Edsp1, Formerly	Ehlers-Danlos Syndrome, Progeroid Type
Galactosyltransferase 1 Deficiency	Spondylodysplastic Eds
Speds	Defective Biosynthesis Of Pds
Defective Biosynthesis Of Proteodermatan Sulfate	Edsp1
Ehlers-Danlos Syndrome, Progeroid Type, 1	Proteodermatan Sulfate Defective Biosynthesis Of
Ehlers-Danlos, Spondylodysplastic Syndrome	Ehlers-Danlos Syndrome, Progeroid Form

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-RS01322	B4GALT4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	B4GALT4	VGNC	VGNC:38352
Macaca mulatta	B4GALT4	VGNC	VGNC:70211
Felis catus	B4GALT4	VGNC	VGNC:68990
Mus musculus	B4GALT4	MGD	MGI:1928387
Rattus norvegicus	B4GALT4	RGD	RGD:1307880
Bos taurus	B4GALT4	VGNC	VGNC:26391
Others	B4GALT4	NCBI

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