A4galt alpha 1,4-galactosyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: A4galtprovided by MGI
Official Full Name: alpha 1,4-galactosyltransferaseprovided by MGI
Primary source: MGI:MGI:3512453
See related: Ensembl:ENSMUSG00000047878 AllianceGenome:MGI:3512453
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
Expression: Biased expression in ovary adult (RPKM 35.6), bladder adult (RPKM 35.2) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 39.4 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (83110923..83135930, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (83226722..83251729, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.
Title: The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.
The deficiency of Gb3 synthase in mice decreased the number of osteoblasts on the bone surface, and suppressed mRNA levels of osteogenic differentiation markers.
Title: Deletion of Gb3 Synthase in Mice Resulted in the Attenuation of Bone Formation via Decrease in Osteoblasts.
Verification of the function of Gb3 in the pathogenesis of hemolytic-uremic syndrome as the cellular receptor responsible for cytotoxicity caused by verotoxin (VT) elaborated by Shigella and certain strains of E.coli.
Title: [Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function].
Gb3 and Gb4 synthase are responsible for the expression of globo-series glycolipids
Title: Murine glycosyltransferases responsible for the expression of globo-series glycolipids: cDNA structures, mRNA expression, and distribution of their products.
Gb3/CD77 synthase has a role in synthesis of globo-series glycosphingolipids and sensitivity to verotoxins
Title: Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (5) 1 citation

General gene information

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Markers

A4galt (e-PCR), detects polymorphism
- UniSTS:546605

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables lactosylceramide 4-alpha-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables lactosylceramide 4-alpha-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables toxic substance binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within globoside biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within globoside biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within plasma membrane organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lactosylceramide 4-alpha-galactosyltransferase

Names: Gb3 synthase; Gb3/CD77 synthase; UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase; alpha-1,4-N-acetylglucosaminyltransferase; alpha4Gal-T1; globotriaosylceramide synthase

NP_001004150.2

EC 2.4.1.228

NP_001164425.2

EC 2.4.1.228

NP_001357576.1

EC 2.4.1.228

NP_001403027.1

EC 2.4.1.228

XP_036015295.1

EC 2.4.1.228

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_001004150.4 → NP_001004150.2 lactosylceramide 4-alpha-galactosyltransferase

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AL591952

UniProtKB/TrEMBL

Q0R0H6, Q3TRS1

Related

ENSMUSP00000057999.7, ENSMUST00000049530.14

Conserved Domains (2) summary

pfam04488
Location:89 → 209

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:222 → 344

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
NM_001170954.2 → NP_001164425.2 lactosylceramide 4-alpha-galactosyltransferase

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.

Source sequence(s)

AL591952

UniProtKB/TrEMBL

Q0R0H6, Q3TRS1

Related

ENSMUSP00000129719.2, ENSMUST00000164614.3

Conserved Domains (2) summary

pfam04488
Location:89 → 209

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:222 → 344

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
NM_001370647.1 → NP_001357576.1 lactosylceramide 4-alpha-galactosyltransferase

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AL591952

UniProtKB/TrEMBL

Q0R0H6, Q3TRS1

Conserved Domains (2) summary

pfam04488
Location:89 → 209

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:222 → 344

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
NM_001416098.1 → NP_001403027.1 lactosylceramide 4-alpha-galactosyltransferase

Status: REVIEWED

Source sequence(s)

AL591952

UniProtKB/TrEMBL

Q0R0H6, Q3TRS1

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_000081.7 Reference GRCm39 C57BL/6J

Range

83110923..83135930 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159402.1 → XP_036015295.1 lactosylceramide 4-alpha-galactosyltransferase isoform X1

UniProtKB/Swiss-Prot

Q67BJ4

UniProtKB/TrEMBL

Q3TRS1, Q3UF00

Conserved Domains (2) summary

pfam04488
Location:100 → 220

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:233 → 355

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region