B4GALT6 - beta-1,4-galactosyltransferase 6 Gene

Also Known as B4Gal-T6; beta4Gal-T6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9331

About B4GALT6

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,622,246-31,724,641 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 6 paralogues. Broad expression in adrenal (RPKM 5.6), brain (RPKM 4.9) and 24 other tissues.

Summary

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]

B4GALT6 Products (4)

mRNA Protein Name
NM_001330570.3 NP_001317499.1 beta-1,4-galactosyltransferase 6 isoform 2
NM_001378109.1 NP_001365038.1 beta-1,4-galactosyltransferase 6 isoform 3
NM_001378110.1 NP_001365039.1 beta-1,4-galactosyltransferase 6 isoform 4
NM_004775.5 NP_004766.2 beta-1,4-galactosyltransferase 6 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IMP
IMP: Inferred from mutant phenotype
24498430 GOA
enables galactosyltransferase activity IDA
IDA: Inferred from direct assay
10320813 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in lactosylceramide biosynthetic process IDA
IDA: Inferred from direct assay
10320813 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

B4GALT6 Protein Structure

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (108 - 243)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (247 - 323)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
Protein Preferred Names Protein Names

beta-1,4-galactosyltransferase 6

  • UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6

B4GALT6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
B4GALT6 Q9UBX8 MAN2A2 Homo sapiens P49641
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

  • Jankovic-Rivera Syndrome

  • SMAPME

  • Sma-Pme

  • Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

  • Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

  • Hereditary Myoclonus With Progressive Distal Muscular Atrophy

  • Jankovic Rivera Syndrome

  • Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

  • Myoclonus Hereditary Progressive Distal Muscular Atrophy

  • Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
Thymus Lymphoma

  • Thymic Lymphoma
Polycystic Kidney Disease

  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant
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 (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS01324 B4GALT6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris B4GALT6 VGNC VGNC:38354
Felis catus B4GALT6 VGNC VGNC:69002
Rattus norvegicus B4GALT6 RGD RGD:71046
Macaca mulatta B4GALT6 VGNC VGNC:70213
Bos taurus B4GALT6 VGNC VGNC:26393
Mus musculus B4GALT6 MGD MGI:1928380
Others B4GALT6 NCBI