Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Galnt1provided by MGI
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 1provided by MGI
Primary source: MGI:MGI:894693
See related: Ensembl:ENSMUSG00000000420 AllianceGenome:MGI:894693
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. Acts upstream of or within protein O-linked glycosylation. 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; respiratory system; sensory organ; and skeleton. Used to study heart valve disease. Orthologous to human GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 19.5), placenta adult (RPKM 18.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A2; 18 12.9 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (24338401..24419873)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (24205321..24286816)

Chromosome 18 - NC_000084.7 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?

the ppGalNAc-T4 was highly expressed in MC3T3-E1 cells during osteogenesis for the first time; ppGalNAc-T1 and -T4 affected the expression of different osteogenic factors, suggesting distinct roles ppGalNAc-T isoforms play in regulating osteogenesis in vitro
Title: Isoform-specific regulation of osteogenic factors by polypeptide N-Acetylgalactosaminyltransferases 1 and 4.
Study show that in Galnt1 null mouse, there is compromised cardiac function that mimics human congenital heart disease suggesting that Galnt1 expression is required for normal heart valve development.
Title: Galnt1 is required for normal heart valve development and cardiac function.
The GALNT1 is the glycosyltransferase enzyme family covering a single known glycosidic linkage.
Title: Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family.
Polypeptide GalNAcT-1 plays a predominant role in leukocyte recruitment in vivo by attaching functionally relevant O-linked glycans to L-selectin ligands.
Title: Severe impairment of leukocyte recruitment in ppGalNAcT-1-deficient mice.
each ppGalNAc T isoform may be uniquely sensitive to peptide sequence and overall charge, which together dictates the substrate sites that will be glycosylated
Title: Emerging paradigms for the initiation of mucin-type protein O-glycosylation by the polypeptide GalNAc transferase family of glycosyltransferases.
Growth factor stimulation regulates O-glycosylation initiation in a Src-dependent fashion by GalNac-T redistribution from golgi to the endoplasmic reticulum.
Title: Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes.
ppGalNAcT-1 to be indispensable for O-glycosylation at specific sites of the bone glycoproteins OPN and BSP.
Title: Isoform-specific O-glycosylation of osteopontin and bone sialoprotein by polypeptide N-acetylgalactosaminyltransferase-1.
These findings reveal that the initiation of protein O glycosylation by ppGalNAcT-1 provides a distinctive repertoire of advantageous functions that support vascular responses and humoral immunity.
Title: Initiation of protein O glycosylation by the polypeptide GalNAcT-1 in vascular biology and humoral immunity.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1)
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

Galnt1 (e-PCR), detects polymorphism
- UniSTS:495907

RH125532 (e-PCR)
- UniSTS:162348

RH131344 (e-PCR)
- UniSTS:214627

RH124327 (e-PCR)
- UniSTS:161149

D19Wsu55e (e-PCR), detects polymorphism
- UniSTS:142226

RH124871 (e-PCR)
- UniSTS:161693

GALNT1 (e-PCR)
- UniSTS:504251

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables manganese ion binding	ISS Inferred from Sequence or Structural Similarity 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
acts_upstream_of_or_within protein O-linked glycosylation	IDA Inferred from Direct Assay 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

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 cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	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 1

Names: UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1; galNAc-T1; polypeptide GalNAc transferase 1; pp-GaNTase 1; ppGaNTase-T1; protein-UDP acetylgalactosaminyltransferase 1

NP_001153876.1

EC 2.4.1.41

NP_001348129.1

EC 2.4.1.41

NP_038842.3

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_001160404.1 → NP_001153876.1 polypeptide N-acetylgalactosaminyltransferase 1

See identical proteins and their annotated locations for NP_001153876.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK085878, AK148550, BC090962, BY711053, CX123572

Consensus CDS

CCDS29100.1

UniProtKB/Swiss-Prot

O08912, Q5BKS3, Q7TND1

Related

ENSMUSP00000132142.2, ENSMUST00000170243.8

Conserved Domains (2) summary

cd02510
Location:119 → 419

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

pfam00652
Location:432 → 548

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
NM_001361200.1 → NP_001348129.1 polypeptide N-acetylgalactosaminyltransferase 1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC134856

Consensus CDS

CCDS29100.1

UniProtKB/Swiss-Prot

O08912, Q5BKS3, Q7TND1

Conserved Domains (2) summary

cd02510
Location:119 → 419

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

pfam00652
Location:432 → 548

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
NM_013814.3 → NP_038842.3 polypeptide N-acetylgalactosaminyltransferase 1

See identical proteins and their annotated locations for NP_038842.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK085878, BC056215, BC090962, BY142456, CX123572

Consensus CDS

CCDS29100.1

UniProtKB/Swiss-Prot

O08912, Q5BKS3, Q7TND1

Related

ENSMUSP00000000430.8, ENSMUST00000000430.14

Conserved Domains (2) summary

cd02510
Location:119 → 419

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

pfam00652
Location:432 → 548

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain