MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase [Homo sapiens] - Gene

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Summary

Official Symbol: MGAT5provided by HGNC
Official Full Name: mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferaseprovided by HGNC
Primary source: HGNC:7049
See related: Ensembl:ENSG00000152127; HPRD:03467; MIM:601774; Vega:OTTHUMG00000131681
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-V; GNT-VA; FLJ31899; FLJ43217; DKFZp686B24166
Summary: The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

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Genomic context

Location :: 2q21.3

Sequence :: Chromosome: 2; NC_000002.11 (135011830..135206468); Chromosome: 2; NC_000002.11 (135206960..135212192)

See MGAT5 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

33 directly measured and 13 derived glycosylation traits in 3533 individuals were identified and three novel gene association (MGAT5, B3GAT1 and SLC9A9) were identified using an additional European cohort.
Title: Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.
Inhibiting expression of N-acetylglucosaminyltransferase V inhibits the proliferation of PC-3 cells.
Title: [Short hairpin RNA targeting N-acetylglucosaminyltransferase V inhibits the proliferation of prostate cancer PC-3 cell line].
GnT-V expression is positively correlated with malignancy in nasopharyngeal carcinoma cells
Title: Down-regulation of GnT-V inhibits nasopharyngeal carcinoma cell CNE-2 malignancy in vitro and in vivo.
Findings suggest Mgat5 may play an important role during oncogenesis, identifying a potential therapeutic target for pulmonary adenocarcinoma.
Title: Knockdown of Mgat5 inhibits CD133+ human pulmonary adenocarcinoma cell growth in vitro and in vivo.
The rs1257169(G) allele of MGAT5 is associated with lower disease severity in multiple sclerosis
Title: MGAT5 and disease severity in progressive multiple sclerosis.
the modulation of glycosyltransferases MGAT3 and MGAT5 by synthetic N-acetyl-D-glucosamine-calix[4]arene correlated with the improvement of NK cell effector functions and the augmentation of tumor cells sensitivity to NK cell-mediated cytotoxicity.
Title: Glycosylation regulates NK cell-mediated effector function through PI3K pathway.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: MGAT5 alters the severity of multiple sclerosis.
Our results suggest that GnT-V could decrease human hepatoma SMMC-7721 cell adhesion and promote cell proliferation partially through RPTPkappa.
Title: The effect of receptor protein tyrosine phosphatase kappa on the change of cell adhesion and proliferation induced by N-acetylglucosaminyltransferase V.
The GnT-V was fully active without exogenous cation and in the presence of EDTA, and pH optimum for GnT-V was in the range of 6.5-7.0.
Title: Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX).
High expression of N-acetylglucosaminyltransferase V is associated with mucinous tumors of the ovary.
Title: High expression of N-acetylglucosaminyltransferase V in mucinous tumors of the ovary.

Submit: New GeneRIF Correction See all (30)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
transferase activity, transferring glycosyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular protein metabolic process	TAS Traceable Author Statement more info
metabolic process	IEA Inferred from Electronic Annotation more info
post-translational protein modification	TAS Traceable Author Statement more info
protein N-linked glycosylation	NAS Non-traceable Author Statement more info
protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	NAS Non-traceable Author Statement more info
Golgi membrane	TAS Traceable Author Statement more info
integral to membrane	NAS Non-traceable Author Statement more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A

Names: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; glcNAc-T V; N-acetylglucosaminyl-transferase V; mannoside acetylglucosaminyltransferase 5; alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase

NP_002401.1

EC 2.4.1.155

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_030324.1 RefSeqGene

Range

5001..205363

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002410.4 → NP_002401.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A

Status: REVIEWED

Source sequence(s)

AC013718, AC016906, AK056461, BU191961, BX647087, D17716, DB223638, DB237089

Consensus CDS

CCDS2171.1

UniProtKB/Swiss-Prot

Q09328

Related

ENSP00000281923, ENST00000281923

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

135011830..135206468

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

127004546..127199268

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC013276.5	AAY14747.1
genomic	AC013718.6	AAX93248.1
genomic	AC016906.7	AAY14791.1
genomic	AF004882.1	AAB81939.1
genomic	CH471058.2	EAX11657.1
		EAX11658.1
mRNA	AF055029.1	None
mRNA	AF113921.1	AAD22449.1
mRNA	AK056461.1	None
mRNA	AK125207.1	None
mRNA	BC041917.1	None
mRNA	BU191961.1	None
mRNA	BX647087.1	None
mRNA	D17716.1	BAA04570.1
mRNA	DB223638.1	None
mRNA	DB237089.1	None
other-genetic	BC156313.1	AAI56314.1
other-genetic	BC157048.1	AAI57049.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q09328.1	GenPept	UniProtKB/Swiss-Prot:Q09328
Q53SM9	GenPept	UniProtKB/TrEMBL:Q53SM9
Q53SV8	GenPept	UniProtKB/TrEMBL:Q53SV8
Q53SZ9	GenPept	UniProtKB/TrEMBL:Q53SZ9
Q71VM6	GenPept	UniProtKB/TrEMBL:Q71VM6