Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Galnt3provided by MGI
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 3provided by MGI
Primary source: MGI:MGI:894695
See related: Ensembl:ENSMUSG00000026994 AllianceGenome:MGI:894695
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 polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Acts upstream of or within spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; limb; respiratory system; and sensory organ. Used to study hyperphosphatemic familial tumoral calcinosis. Orthologous to human GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in testis adult (RPKM 15.8), colon adult (RPKM 5.6) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.3; 2 38.99 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (65913110..65955217, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (66082766..66125056, complement)

Chromosome 2 - NC_000068.8 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 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?

In vivo mapping of the mouse Galnt3-specific O-glycoproteome.
Title: In vivo mapping of the mouse Galnt3-specific O-glycoproteome.
GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/beta-catenin signaling pathway.
Title: GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/β-catenin signaling pathway.
GALNT3 protects against vascular calcification by reducing oxidative stress and apoptosis of smooth muscle cells.
Title: GALNT3 protects against vascular calcification by reducing oxidative stress and apoptosis of smooth muscle cells.
Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome.
Title: Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome.
role of GALNT3 in regulating host responses during influenza A virus infection
Title: GALNT3 inhibits NF-κB signaling during influenza A virus infection.
Overexpression of Galnt3 in chondrocytes causes dwarfism due to the increase of mucin-type O-glycans and a reduction in chondroitin sulfates.
Title: Overexpression of Galnt3 in chondrocytes resulted in dwarfism due to the increase of mucin-type O-glycans and reduction of glycosaminoglycans.
The stabilized Fgf23-Autosomal dominant hypophosphatemic rickets allele reversed the Galnt3-null phenotype and normalized total Fgf23, serum phosphorus, and bone Fgf23 mRNA.
Title: Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.
The deficiency of Galnt3 results in a severe reduction of mucin-type O-glycans in spermatids and causes impaired acrosome formation, leading to oligoasthenoteratozoospermia, and Galnt3 may also be involved in the process of fertilization.
Title: Galnt3 deficiency disrupts acrosome formation and leads to oligoasthenoteratozoospermia.
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Title: A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
dietary phosphate restriction normalizes biochemical and skeletal phenotypes of Galnt3 knockout mice and, thus, can be an effective therapy for tumoral calcinosis.
Title: Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

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)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (3) 1 citation

General gene information

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Markers

Galnt3 (e-PCR), detects polymorphism
- UniSTS:495910

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables polypeptide N-acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation via serine	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation via serine	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation via threonine	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation via threonine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polypeptide N-acetylgalactosaminyltransferase 3

Names: UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3; galNAc-T3; polypeptide GalNAc transferase 3; pp-GaNTase 3; ppGaNTase-T3; protein-UDP acetylgalactosaminyltransferase 3

NP_056551.2

EC 2.4.1.41

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_015736.3 → NP_056551.2 polypeptide N-acetylgalactosaminyltransferase 3

See identical proteins and their annotated locations for NP_056551.2

Status: VALIDATED

Source sequence(s)

AL928586, AL929230

Consensus CDS

CCDS16075.1

UniProtKB/Swiss-Prot

P70419, Q3UXL2, Q80V55

Related

ENSMUSP00000028378.4, ENSMUST00000028378.4

Conserved Domains (4) summary

cd02510
Location:188 → 493

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

COG0463
Location:184 → 302

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

cd00161
Location:507 → 629

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

pfam00652
Location:506 → 627

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain