B4GALT6 - beta-1,4-galactosyltransferase 6 Gene

Homo sapiens

Also known as B4Gal-T6; beta4Gal-T6

Gene ID: 9331 | Gene type: protein coding

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	Reference	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	Reference	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_7C

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01324	B4GALT6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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