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

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 several processes, including determination of adult lifespan; lipid storage; and motor behavior. Predicted to be located in Golgi 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, Dec 2024]
Expression: Broad expression in duodenum adult (RPKM 129.5), small intestine adult (RPKM 90.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

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_000076.7 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?

Disordered testosterone transport in mice lacking the ganglioside GM2/GD2 synthase gene.
Title: Disordered testosterone transport in mice lacking the ganglioside GM2/GD2 synthase gene.
Study analyzed enzyme activity and intracellular localization of the products of mutant cDNAs from eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1, and noted a lack of enzyme activity in a majority of them except two family cases. Then compared profiles of clinical findings of patients with hereditary spastic paraplegia and abnormal phenotypes of B4galnt-KO mice.
Title: Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.
We used GM2/GD2 synthase (B4galnt1)-deficient mice to immunize by liposomes embedded with GD1alpha or acidic glycolipid fractions from brain of St3gal5-deficient mice. Specificities of established mAbs as analyzed by enzyme-linked immunosorbent assay and thin-layer chromatography-immunostaining were very high among various gangliosides.
Title: Expression analysis of 0-series gangliosides in human cancer cell lines with monoclonal antibodies generated using knockout mice of ganglioside synthase genes.
GM2 elevation is associated with activation of microglia and astrocytes in the injured developing brain, and GM2, GD2, or other downstream gangliosides may regulate astroglial responses in ethanol-induced neurodegeneration
Title: Ganglioside accumulation in activated glia in the developing brain: comparison between WT and GalNAcT KO mice.
This study demonistrated that Ganglioside deficiency(B4galnt1 and ST8SIA1 knockout mice causes inflammation and neurodegeneration via the activation of complement system in the spinal cord.
Title: Ganglioside deficiency causes inflammation and neurodegeneration via the activation of complement system in the spinal cord.
Galgt1 is required for presynaptic expression of the CT carbohydrate at the neuromuscular junction.
Title: Distinct contributions of Galgt1 and Galgt2 to carbohydrate expression and function at the mouse neuromuscular junction.
Impaired hippocampal long-term potentiation and failure of learning in beta1,4-N-acetylgalactosaminyltransferase gene transgenic mice
Title: Impaired hippocampal long-term potentiation and failure of learning in β1,4-N-acetylgalactosaminyltransferase gene transgenic mice.
To define maturation of cortical neurons in mice lacking B4galnt1 we performed a morphological analysis of Golgi-Cox impregnated pyramidal neurons.
Title: Dendritic morphology and spine density is not altered in motor cortex and dentate granular cells in mice lacking the ganglioside biosynthetic gene B4galnt1 - A quantitative Golgi cox study.
The results of this study indicated that destruction of glycolipid-enriched microdomain is caused by ganglioside deficiency with gradual intensity depending on the degree of defects of their compositions.
Title: Gangliosides are essential in the protection of inflammation and neurodegeneration via maintenance of lipid rafts: elucidation by a series of ganglioside-deficient mutant mice.
Our data indicate that it is highly unlikely that transmission failure at NMJs contributes to the progressive motor defects of aged GM2/GD2-synthase null-mutants.
Title: Neuromuscular synaptic transmission in aged ganglioside-deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L25885 (e-PCR)
- UniSTS:160052

B4galnt1 (e-PCR), detects polymorphism
- UniSTS:508000

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

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 ganglioside biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycosphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glycosphingolipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity 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
involved_in glycosphingolipid metabolic process	ISS Inferred from Sequence or Structural Similarity 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 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 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 apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 2.4.1.92

NP_001231547.1

EC 2.4.1.92

NP_001345506.1

EC 2.4.1.92

NP_001345507.1

EC 2.4.1.92

NP_032106.1

EC 2.4.1.92

NP_082015.2

EC 2.4.1.92

XP_006513282.1

EC 2.4.1.92

XP_017169292.1

EC 2.4.1.92

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_001244617.2 → NP_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
NM_001244618.2 → NP_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
NM_001358577.2 → NP_001345506.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC144852

Conserved Domains (1) summary

pfam00535
Location:247 → 393

Glycos_transf_2; Glycosyl transferase family 2
NM_001358578.2 → NP_001345507.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC144852

Conserved Domains (1) summary

pfam00535
Location:283 → 429

Glycos_transf_2; Glycosyl transferase family 2
NM_001428471.1 → NP_001415400.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC144852

UniProtKB/Swiss-Prot

Q09200

UniProtKB/TrEMBL

Q3UN35
NM_001428472.1 → NP_001415401.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC144852

UniProtKB/Swiss-Prot

Q09200

UniProtKB/TrEMBL

Q3UN35
NM_001428473.1 → NP_001415402.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC144852
NM_008080.6 → NP_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:280 → 426

Glycos_transf_2; Glycosyl transferase family 2
NM_027739.3 → NP_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:316 → 462

Glycos_transf_2; Glycosyl transferase family 2

RNA

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

127001025..127008209

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313803.2 → XP_017169292.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2
XM_006513219.5 → XP_006513282.1 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1

Conserved Domains (1) summary

pfam00535
Location:280 → 426

Glycos_transf_2; Glycosyl transferase family 2