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

    Gene ID: 11320, updated on 2-Nov-2024

    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
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    Genomic context

    See MGAT4A in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16269 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:99224127-99225116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11802 Neighboring gene cytochrome c oxidase assembly factor 5 Neighboring gene unc-50 inner nuclear membrane RNA binding protein Neighboring gene uncharacterized LOC124906050 Neighboring gene YWHAQ pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11803 Neighboring gene uncharacterized LOC107985922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11804 Neighboring gene Sharpr-MPRA regulatory region 13812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99364030-99364530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99364531-99365031 Neighboring gene long intergenic non-protein coding RNA 2611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99386702-99387202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99387203-99387703

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: COA5

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in N-glycan processing  
    involved_in glyoxylate metabolic process  
    involved_in protein N-linked glycosylation  
    involved_in protein glycosylation PubMed 
    involved_in viral protein processing  
    Component Evidence Code Pubs
    located_in Golgi membrane  
    is_active_in Golgi stack  
    is_active_in endoplasmic reticulum  
    located_in endoplasmic reticulum lumen  
    is_active_in endoplasmic reticulum-Golgi intermediate compartment  
    located_in extracellular exosome PubMed 
    located_in peroxisome  

    General protein information

    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
    NP_036346.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001160154.2NP_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:7252
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
    2. NM_012214.3NP_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:103380
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:287311
      PGAP4-like; putative TM2 helix [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      98619106..98731132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      99077498..99189568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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