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

Gene ID: 239559, updated on 21-Apr-2024

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
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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_000081.7Genomic Context describing neighboring genes Neighboring gene RNA U12, small nuclear Neighboring gene cytochrome b5 reductase 3 Neighboring gene STARR-positive B cell enhancer ABC_E4142 Neighboring gene STARR-seq mESC enhancer starr_39316 Neighboring gene STARR-seq mESC enhancer starr_39317 Neighboring gene STARR-seq mESC enhancer starr_39321 Neighboring gene STARR-positive B cell enhancer ABC_E5503 Neighboring gene RIKEN cDNA C130064B19 gene Neighboring gene predicted gene, 32886

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables galactosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
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 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

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
NP_001164425.2
NP_001357576.1
NP_001403027.1
XP_036015295.1

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)

  1. NM_001004150.4NP_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:89209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
  2. NM_001170954.2NP_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:89209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
  3. NM_001370647.1NP_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:89209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
  4. NM_001416098.1NP_001403027.1  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL591952
    UniProtKB/TrEMBL
    Q0R0H6

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

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    83110923..83135930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q67BJ4
    UniProtKB/TrEMBL
    Q3TRS1, Q3UF00
    Conserved Domains (2) summary
    pfam04488
    Location:100220
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:233355
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region