MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MGAT4Aprovided by HGNC
Official Full Name: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Aprovided by HGNC
Primary source: HGNC:HGNC:7047
See related: Ensembl:ENSG00000071073 MIM:604623; AllianceGenome:HGNC:7047
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: GNT-IV; GnT-4a; GNT-IVA
Summary: This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
Expression: Broad expression in small intestine (RPKM 18.3), colon (RPKM 13.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (98619106..98731132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (99077498..99189568, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (99235569..99347595, complement)

Chromosome 2 - NC_000002.12 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?

N-glycosylation by N-acetylglucosaminyltransferase IVa enhances the interaction of integrin beta1 with vimentin and promotes hepatocellular carcinoma cell motility.
Title: N-glycosylation by N-acetylglucosaminyltransferase IVa enhances the interaction of integrin β1 with vimentin and promotes hepatocellular carcinoma cell motility.
GnT-IVa may contribute to the malignancy of choriocarcinoma by promoting cell adhesion, migration and invasion through glycosylation of integrin beta1 and LAMP-2.
Title: N-acetylglucosaminyltransferase IVa promotes invasion of choriocarcinoma.
Data suggest microRNA-424 regulates expression of MGAT4A (mannoside beta-1,4-N-acetylglucosaminyltransferase A), OGT (O-linked N-acetylglucosamine transferase), and GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13) in mammary epithelium.
Title: MicroRNA-424 Predicts a Role for β-1,4 Branched Glycosylation in Cell Cycle Progression.
Findings suggest that GnT-IVa is involved in regulating invasion of choriocarcinoma through modifications of the oligosaccharide chains of beta1 integrin.
Title: High expression of N-acetylglucosaminyltransferase IVa promotes invasion of choriocarcinoma.
GNT-IV genetic variation is not associated with gastric cancer.
Title: Genetic variation in a4GnT in relation to Helicobacter pylori serology and gastric cancer risk.
The results of this work suggest that in T2D subjects, high levels of glucose and triglycerides are accompanied by an increase on MGAT4A mRNA levels and WBC count; condition that suggests a pro-inflammatory state due to a chronic metabolic stress.
Title: The transcription of MGAT4A glycosyl transferase is increased in white cells of peripheral blood of type 2 diabetes patients.
GnT-IVa is more active than GnT-IVb under physiological conditions and it primarily contributes to the biosynthesis of N-glycans.
Title: Kinetic properties and substrate specificities of two recombinant human N-acetylglucosaminyltransferase-IV isozymes.
We investigated mRNA levels of glycosyltransferases, namely, N-acetylglucosaminyltransferase a (GnT)-IVa, and found that (GnT)-IVa expression was decreased in HLE-cells Epirubicin resistant.
Title: N-glycan alterations are associated with drug resistance in human hepatocellular carcinoma.
analysis of expression of N-acetylglucosaminyltransferase-IVa and IVb (GnT-IVa and b) in pancreatic cancer
Title: Aberrant expression of N-acetylglucosaminyltransferase-IVa and IVb (GnT-IVa and b) in pancreatic cancer.
upregulation of mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetyl-glucosaminyl-transferase is associated with metastatic colorectal carcinoma
Title: Metastatic transcriptional pattern revealed by gene expression profiling in primary colorectal carcinoma.

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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
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed
Envelope transmembrane glycoprotein gp41	env	Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36125 (e-PCR)
- UniSTS:59929

NoName (e-PCR)
- UniSTS:482331

Cda19d01 (e-PCR)
- UniSTS:26405

A005M31 (e-PCR)
- UniSTS:24879

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

G32240 (e-PCR)
- UniSTS:116843

MGAT4A_9262 (e-PCR)
- UniSTS:468083

RH46073 (e-PCR)
- UniSTS:16540

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alanine-glyoxylate transaminase activity	ISS Inferred from Sequence or Structural Similarity more info
enables alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in N-glycan processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in glyoxylate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in Golgi stack	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A

Names: N-acetylglucosaminyltransferase IVa; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa; UDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IV; UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa; UDP-N-acetylglucosamine:alpha1,3-d-mannoside beta1,4-N-acetylglucosaminyltransferase; alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase; glcNAc-T IVa; mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A; mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A

NP_001153626.1

EC 2.4.1.145

NP_036346.1

EC 2.4.1.145

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_001160154.2 → NP_001153626.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 2

See identical proteins and their annotated locations for NP_001153626.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, and lacks an alternate segment in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, and a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK092952, AK304393, AW138839, BC127108

Consensus CDS

CCDS54380.1

UniProtKB/Swiss-Prot

Q9UM21

Related

ENSP00000404889.2, ENST00000414521.6

Conserved Domains (1) summary

pfam04666
Location:7 → 252

Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
NM_012214.3 → NP_036346.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1

See identical proteins and their annotated locations for NP_036346.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB000616, AC064860, AC109826

Consensus CDS

CCDS2036.1

UniProtKB/Swiss-Prot

B4E2R6, D3DVH6, E9PEN2, Q53S97, Q86Z15, Q9UM21

UniProtKB/TrEMBL

A8K668

Related

ENSP00000377127.1, ENST00000393487.6

Conserved Domains (2) summary

pfam04666
Location:103 → 380

Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

cd21105
Location:287 → 311

PGAP4-like; putative TM2 helix [structural motif]