B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

Also Known as B4Gal-T4; beta4Gal-T4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8702

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 References 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 References 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 References 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_7N: N-terminal region of glycosyl transferase group 7 (77 - 210)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (214 - 289)

  • 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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01322 B4GALT4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20624 B4galt4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27133 B4galt4 Rat Pre-designed siRNA Set A Pre-designed Set / 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