MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MGAT3provided by HGNC
Official Full Name: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:7046
See related: Ensembl:ENSG00000128268 MIM:604621; AllianceGenome:HGNC:7046
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GNT3; GNT-III
Summary: There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 4.5), small intestine (RPKM 3.0) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (39457012..39492194)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (39927644..39962814)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (39853017..39888199)

Chromosome 22 - NC_000022.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppression of MGAT3 expression and the epithelial-mesenchymal transition of lung cancer cells by miR-188-5p.
Title: Suppression of MGAT3 expression and the epithelial-mesenchymal transition of lung cancer cells by miR-188-5p.
Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk.
Title: Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk.
Study found that N-Acetylglucosaminyltransferase III (GnT-III) is expressed in trophoblasts during normal human pregnancy and is involved in regulating trophoblast function.
Title: Expression of N-Acetylglucosaminyltransferase III Promotes Trophoblast Invasion and Migration in Early Human Placenta.
The expression of GnT-III in placenta suggests a role for GnT-III in the regulation of tropho- blast behavior. And decreased expression of GnT-III is associated with oxidative stress in preeclamptic pla- centas and, thus, may be involved in the pathogenesis of preeclampsia.
Title: Downregulated N-acetylglucosaminyltransferase III is involved in attenuating trophoblast migration and invasion under hypoxia-reoxygenation condition.
Results strongly indicate that the MGAT3 and BACH2 genes play an important role in IBD pathogenesis and suggest a possible disease pathway mediated by the pro-inflammatory properties of IgG antibodies acquired by alterations in Fc glycosylation.
Title: Promoter methylation of the MGAT3 and BACH2 genes correlates with the composition of the immunoglobulin G glycome in inflammatory bowel disease.
Novel insights into the epigenetic regulation of MGAT3/bisecting GlcNAc and demonstrate the importance of N-glycosylation in cancer progression.
Title: Epigenetic activation of MGAT3 and corresponding bisecting GlcNAc shortens the survival of cancer patients.
Data suggest that GNT-III expression regulates levels/activation of the heavily glycosylated Notch receptor involved in normal and malignant cell development; suppression of GNT-III in epithelial ovarian carcinoma cell lines results in down-regulation of Notch signaling that is more potent than pharmacologic blockage of Notch activation.
Title: The glycosyltransferase GnT-III activates Notch signaling and drives stem cell expansion to promote the growth and invasion of ovarian cancer.
MGAT3 expressed in cells stimulates lipid droplet growth. These findings provide additional evidence that MGAT3 likely functions as a triacylglycerol synthase in cells.
Title: Biochemical characterization of human acyl coenzyme A: 2-monoacylglycerol acyltransferase-3 (MGAT3).
Core-fucosylated tetra-antennary structures were decreased in quantity likely as a result of hypomethylated MGAT3 gene promoter followed by increased expression of this gene
Title: DNA hypomethylation upregulates expression of the MGAT3 gene in HepG2 cells and leads to changes in N-glycosylation of secreted glycoproteins.
High expression of alpha2,6-sialylation on the cell surface could affect the anti-migratory role of GnT-III, which provides an insight into the mechanistic roles of GnT-III in tumor metastasis.
Title: Expression of N-Acetylglucosaminyltransferase III Suppresses α2,3-Sialylation, and Its Distinctive Functions in Cell Migration Are Attributed to α2,6-Sialylation Levels.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482306

RH78550 (e-PCR)
- UniSTS:15448

G38154 (e-PCR)
- UniSTS:53341

RH80746 (e-PCR)
- UniSTS:85627

SHGC-144567 (e-PCR)
- UniSTS:172283

RH121145 (e-PCR)
- UniSTS:134140

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info
enables glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amyloid-beta metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cellular response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cognition	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of lysosomal protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of protein localization to early endosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein N-linked glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

Names: GlcNAc-T III; N-acetylglucosaminyltransferase III; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III; mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase

NP_001091740.1

EC 2.4.1.144

NP_002400.3

EC 2.4.1.144

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_001098270.2 → NP_001091740.1 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

See identical proteins and their annotated locations for NP_001091740.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and is transcribed from the H204 promoter. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK125361, AL022312, BC113383, BG683192, BM675328, CR456519, DA261678, DA370485, DA519457

Consensus CDS

CCDS13994.2

UniProtKB/Swiss-Prot

A6NGD0, Q09327, Q14CK5, Q6IC49, Q9UH32

UniProtKB/TrEMBL

B2R969

Conserved Domains (1) summary

pfam04724
Location:201 → 498

Glyco_transf_17; Glycosyltransferase family 17
NM_002409.5 → NP_002400.3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

See identical proteins and their annotated locations for NP_002400.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and is transcribed from the H20 promoter. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK125361, BC113383, BG683192, BM675328, DA261678, DA370485, DA519457, Z83845

Consensus CDS

CCDS13994.2

UniProtKB/Swiss-Prot

A6NGD0, Q09327, Q14CK5, Q6IC49, Q9UH32

UniProtKB/TrEMBL

B2R969

Related

ENSP00000345270.6, ENST00000341184.7

Conserved Domains (1) summary

pfam04724
Location:201 → 498

Glyco_transf_17; Glycosyltransferase family 17