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

Gene ID: 51146, updated on 2-Nov-2024

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: 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

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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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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

    See identical proteins and their annotated locations for NP_057245.1

    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

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