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    A4GNT alpha-1,4-N-acetylglucosaminyltransferase [ Homo sapiens (human) ]

    Gene ID: 51146, updated on 4-Jan-2025

    Summary

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    Official Symbol
    A4GNTprovided by HGNC
    Official Full Name
    alpha-1,4-N-acetylglucosaminyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:17968
    See related
    Ensembl:ENSG00000118017 MIM:616709; AllianceGenome:HGNC:17968
    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
    alpha4GnT
    Summary
    This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in stomach (RPKM 9.5), duodenum (RPKM 0.9) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See A4GNT in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138123713..138133302, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (140864300..140873888, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137842555..137851232, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374128 Neighboring gene NANOG hESC enhancer GRCh37_chr3:137765865-137766518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137789569-137790070 Neighboring gene DAZ interacting zinc finger protein 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137833761-137834262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137834263-137834762 Neighboring gene keratin 8 pseudogene 36 Neighboring gene OCT4 hESC enhancer GRCh37_chr3:137879291-137879792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20601 Neighboring gene debranching RNA lariats 1 Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene NME/NM23 family member 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Usefulness of the real-time reverse transcription-polymerase chain reaction assay targeted to alpha1,4-N-acetylglucosaminyltransferase for the detection of gastric cancer. Shimizu F, et al. Lab Invest, 2003 Feb. PMID 12594234
    2. Immunohistochemical demonstration of alpha1,4-N-acetylglucosaminyltransferase that forms GlcNAcalpha1,4Galbeta residues in human gastrointestinal mucosa. Zhang MX, et al. J Histochem Cytochem, 2001 May. PMID 11304796
    3. Clinical utility of quantitative RT-PCR targeted to alpha1,4-N-acetylglucosaminyltransferase mRNA for detection of pancreatic cancer. Ishizone S, et al. Cancer Sci, 2006 Feb. PMID 16441422, Free PMC Article
    4. Essential role of gastric gland mucin in preventing gastric cancer in mice. Karasawa F, et al. J Clin Invest, 2012 Mar. PMID 22307328, Free PMC Article
    5. Genetic variation in a4GnT in relation to Helicobacter pylori serology and gastric cancer risk. Zheng Z, et al. Helicobacter, 2009 Oct. PMID 19751437, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. human alpha1,4-N-acetylglucosaminyltransferase (alpha4GnT) is responsible for O-glycan biosynthesis and has a role in preventing gastric cancer by inhibiting H. pylori infection and also suppressing tumor-promoting inflammation
      Title: Essential role of gastric gland mucin in preventing gastric cancer in mice.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variation in a4GnT in relation to Helicobacter pylori serology and gastric cancer risk.
    4. Up-regulation of alpha-1,4-N-acetylglucosaminyltransferase is associated with pancreatic cancer
      Title: Clinical utility of quantitative RT-PCR targeted to alpha1,4-N-acetylglucosaminyltransferase mRNA for detection of pancreatic cancer.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149493

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acetylglucosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glycoprotein biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    alpha-1,4-N-acetylglucosaminyltransferase

    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)

    1. NM_016161.3 → NP_057245.1  alpha-1,4-N-acetylglucosaminyltransferase

      Status: REVIEWED

      Source sequence(s)
      AC023049
      Consensus CDS
      CCDS3097.1
      UniProtKB/Swiss-Prot
      Q0VDK1, Q0VDK2, Q9UNA3
      Related
      ENSP00000236709.3, ENST00000236709.4
      Conserved Domains (2) summary
      pfam04488
      Location:64 → 182
      Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
      pfam04572
      Location:201 → 321
      Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      138123713..138133302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006544.2 → XP_016862033.1  alpha-1,4-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q0VDK1, Q0VDK2, Q9UNA3
      Conserved Domains (2) summary
      pfam04488
      Location:64 → 182
      Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
      pfam04572
      Location:201 → 321
      Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

    2. XM_017006543.3 → XP_016862032.1  alpha-1,4-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q0VDK1, Q0VDK2, Q9UNA3
      Conserved Domains (2) summary
      pfam04488
      Location:64 → 182
      Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
      pfam04572
      Location:201 → 321
      Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      140864300..140873888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346723.1 → XP_054202698.1  alpha-1,4-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q0VDK1, Q0VDK2, Q9UNA3

    2. XM_054346722.1 → XP_054202697.1  alpha-1,4-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q0VDK1, Q0VDK2, Q9UNA3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNA3.1 GenPept UniProtKB/Swiss-Prot:Q9UNA3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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