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B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 [ Mus musculus (house mouse) ]

Gene ID: 14421, updated on 3-Apr-2024

Summary

Official Symbol
B4galnt1provided by MGI
Official Full Name
beta-1,4-N-acetyl-galactosaminyl transferase 1provided by MGI
Primary source
MGI:MGI:1342057
See related
Ensembl:ENSMUSG00000006731 AllianceGenome:MGI:1342057
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
Also known as
Ggm2; Ggm-2; Galgt1; GalNAcT; GalNAc-T; Gal-NAc-T; 4933429D13Rik
Summary
Enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Acts upstream of or within glycosphingolipid metabolic process; lipid storage; and spermatogenesis. Predicted to be located in Golgi membrane and plasma membrane. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 26. Orthologous to human B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum adult (RPKM 129.5), small intestine adult (RPKM 90.3) and 19 other tissues See more
Orthologs
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Genomic context

See B4galnt1 in Genome Data Viewer
Location:
10 D3; 10 74.5 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (127001025..127008209)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (127165156..127172340)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 23664 Neighboring gene STARR-seq mESC enhancer starr_28209 Neighboring gene predicted gene, 51819 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:126608171-126608358 Neighboring gene solute carrier family 26, member 10 Neighboring gene Rho guanine nucleotide exchange factor 25 Neighboring gene RIKEN cDNA F420014N23 gene Neighboring gene deltex 3, E3 ubiquitin ligase

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)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within determination of adult lifespan IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ganglioside biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within ganglioside biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within ganglioside biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ganglioside biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ganglioside biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in glycosphingolipid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within glycosphingolipid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycosphingolipid metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within limb development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in lipid glycosylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid storage IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within motor behavior IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within nerve development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vacuole organization IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-1,4 N-acetylgalactosaminyltransferase 1
Names
(N-acetylneuraminyl)-galactosylglucosylceramide
GM2/GD2 synthase
UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase
beta1,4GalNAC-T
NP_001231546.1
NP_001231547.1
NP_001345506.1
NP_001345507.1
NP_032106.1
NP_082015.2
XP_006513282.1
XP_017169292.1

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_001244617.2NP_001231546.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3

    See identical proteins and their annotated locations for NP_001231546.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC144852
    UniProtKB/TrEMBL
    Q8VDF0
    Related
    ENSMUST00000219523.2
  2. NM_001244618.2NP_001231547.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 4

    See identical proteins and their annotated locations for NP_001231547.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and lacks several 3' exons but contains an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AC144852
    Related
    ENSMUST00000220055.2
  3. NM_001358577.2NP_001345506.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC144852
    Conserved Domains (1) summary
    pfam00535
    Location:247393
    Glycos_transf_2; Glycosyl transferase family 2
  4. NM_001358578.2NP_001345507.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC144852
    Conserved Domains (1) summary
    pfam00535
    Location:283429
    Glycos_transf_2; Glycosyl transferase family 2
  5. NM_001428471.1NP_001415400.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC144852
    UniProtKB/Swiss-Prot
    Q09200
    UniProtKB/TrEMBL
    Q3UN35
  6. NM_001428472.1NP_001415401.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC144852
    UniProtKB/Swiss-Prot
    Q09200
    UniProtKB/TrEMBL
    Q3UN35
  7. NM_001428473.1NP_001415402.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC144852
  8. NM_008080.6NP_032106.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_032106.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 8, and 9 all encode the same isoform (1).
    Source sequence(s)
    AC144852
    Consensus CDS
    CCDS24230.1
    UniProtKB/Swiss-Prot
    Q09200
    UniProtKB/TrEMBL
    Q3UN35
    Related
    ENSMUSP00000006914.10, ENSMUST00000006914.11
    Conserved Domains (1) summary
    pfam00535
    Location:280426
    Glycos_transf_2; Glycosyl transferase family 2
  9. NM_027739.3NP_082015.2  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_082015.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AC144852
    UniProtKB/TrEMBL
    A0A1Z4EAV4
    Conserved Domains (1) summary
    pfam00535
    Location:316462
    Glycos_transf_2; Glycosyl transferase family 2

RNA

  1. NR_045166.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC144852
    Related
    ENSMUST00000217678.2

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_000076.7 Reference GRCm39 C57BL/6J

    Range
    127001025..127008209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017313803.2XP_017169292.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2

  2. XM_006513219.5XP_006513282.1  beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam00535
    Location:280426
    Glycos_transf_2; Glycosyl transferase family 2