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

Gene ID: 4248, updated on 22-Aug-2020

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
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

Genomic context

See MGAT3 in Genome Data Viewer
Location:
22q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (39457012..39492194)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39843235..39888199)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Neighboring gene uncharacterized LOC100506472 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2018 Neighboring gene MGAT3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8945 Neighboring gene uncharacterized LOC105373035 Neighboring gene mitochondrial elongation factor 1 Neighboring gene activating transcription factor 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43371, MGC141943, MGC142278

Gene Ontology Provided by GOA

Process Evidence Code Pubs
N-acetylglucosamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
cognition ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of lysosomal protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein localization to early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
protein N-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_002400.3

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.

mRNA and Protein(s)

  1. NM_001098270.2NP_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
    Q09327
    Conserved Domains (1) summary
    pfam04724
    Location:201498
    Glyco_transf_17; Glycosyltransferase family 17
  2. NM_002409.5NP_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
    Q09327
    Related
    ENSP00000345270.6, ENST00000341184.7
    Conserved Domains (1) summary
    pfam04724
    Location:201498
    Glyco_transf_17; Glycosyltransferase family 17

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    39457012..39492194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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