B4galt6 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: B4galt6provided by MGI
Official Full Name: UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6provided by MGI
Primary source: MGI:MGI:1928380
See related: Ensembl:ENSMUSG00000056124 AllianceGenome:MGI:1928380
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity. Involved in ganglioside biosynthetic process via lactosylceramide and neurogenesis. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; limb; nervous system; sensory organ; and urinary system. Orthologous to human B4GALT6 (beta-1,4-galactosyltransferase 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in small intestine adult (RPKM 16.5), duodenum adult (RPKM 16.3) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A2; 18 11.48 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (20817656..20879461, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (20684599..20746404, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lactosylceramide synthase is encoded by B4galt5 and 6 genes in the central nervous system, and these genes are indispensable for neuronal maturation, perineuronal nets formation, and axonal and myelin formation.
Title: Lactosylceramide synthases encoded by B4galt5 and 6 genes are pivotal for neuronal generation and myelin formation in mice.
lactosylceramide (LacCer) synthesized by beta-1,4-galactosyltransferase 6 (B4GALT6) is upregulated in the central nervous system during chronic experimental autoimmune encephalomyelitis, a model of multiple sclerosis.
Title: Regulation of astrocyte activation by glycolipids drives chronic CNS inflammation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

RH125587 (e-PCR)
- UniSTS:162401

B4galt6 (e-PCR), detects polymorphism
- UniSTS:508001

AU022389 (e-PCR)
- UniSTS:181095

NoName (e-PCR)
- UniSTS:237748

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables galactosyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ganglioside biosynthetic process via lactosylceramide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lactosylceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sphingolipid biosynthetic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beta-1,4-galactosyltransferase 6

Names: UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6; UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6; b4Gal-T6; beta-1, 4-galactosyltransferase VI; beta-1,4-GalTase 6; beta4Gal-T6; glucosylceramide beta-1,4-galactosyltransferase; lacCer synthase; lactosylceramide synthase

NP_062711.1

EC 2.4.1.274

XP_030106406.1

EC 2.4.1.274

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019737.2 → NP_062711.1 beta-1,4-galactosyltransferase 6

See identical proteins and their annotated locations for NP_062711.1

Status: VALIDATED

Source sequence(s)

AC129078, AF097158

Consensus CDS

CCDS29086.1

UniProtKB/Swiss-Prot

Q9WVK5

UniProtKB/TrEMBL

Q3UUA9, Q3UUN1

Related

ENSMUSP00000066515.6, ENSMUST00000070080.6

Conserved Domains (1) summary

cd00899
Location:155 → 371

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

20817656..20879461 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250546.2 → XP_030106406.1 beta-1,4-galactosyltransferase 6 isoform X1

UniProtKB/TrEMBL

Q3TPM8, Q3UUN1

Conserved Domains (1) summary

cd00899
Location:111 → 327

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids