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] See more...

Aliases for A4GNT Gene

Aliases for A4GNT Gene

  • Alpha-1,4-N-Acetylglucosaminyltransferase 2 3 4 5
  • Alpha4GnT 2 3 4
  • EC 2.4.1.- 4
  • A4GNT 5

External Ids for A4GNT Gene

Previous GeneCards Identifiers for A4GNT Gene

  • GC03M139325
  • GC03M137842
  • GC03M135217

Summaries for A4GNT Gene

Entrez Gene Summary for A4GNT Gene

  • 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]

GeneCards Summary for A4GNT Gene

A4GNT (Alpha-1,4-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with A4GNT include Borna Disease and Tumor Of Exocrine Pancreas. Among its related pathways are Metabolism of proteins and heparan sulfate biosynthesis. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity. An important paralog of this gene is A4GALT.

UniProtKB/Swiss-Prot Summary for A4GNT Gene

  • Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans (PubMed:10430883). Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct (PubMed:10430883). May protect against inflammation-associated gastric adenocarcinomas (By similarity).

Additional gene information for A4GNT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for A4GNT Gene

Genomics for A4GNT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for A4GNT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J138132 Promoter 0.3 EPDnew 600.7 +0.9 900 0.1 A4GNT ENSG00000286396 DZIP1L
GH03J138173 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 38.5 -41.1 -41091 2.4 BRCA1 ARHGAP35 HNRNPL PRDM10 ZNF629 REST TFE3 ZNF512 IKZF1 ZNF692 DBR1 A4GNT lnc-A4GNT-1
GH03J138112 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.3 +19.0 18972 4.5 PRDM10 CTCF TARDBP PATZ1 POLR2A ZNF341 ZFX GATAD2B NONO KLF9 DZIP1L MN298040 piR-52403 A4GNT KRT8P36 CLDN18
GH03J138118 Enhancer 0.8 Ensembl ENCODE 29.2 +14.3 14309 1.2 CTCF FOXA1 REST RAD21 TRIM22 SMC3 ZFHX2 RFX5 ZNF335 STAT1 A4GNT MRAS DZIP1L MN298040 ENSG00000286396
GH03J138124 Enhancer 0.5 ENCODE 40.2 +7.7 7694 2.1 JUND FOS WT1 ZFHX2 SPI1 RCOR1 KLF17 ZNF398 CHD2 ENSG00000286396 A4GNT DZIP1L MN298040
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around A4GNT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for A4GNT

Top Transcription factor binding sites by QIAGEN in the A4GNT gene promoter:
  • Bach1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXO1a
  • POU2F1
  • POU2F1a

Genomic Locations for A4GNT Gene

Genomic Locations for A4GNT Gene
chr3:138,123,713-138,133,310
(GRCh38/hg38)
Size:
9,598 bases
Orientation:
Minus strand
chr3:137,842,560-137,851,229
(GRCh37/hg19)
Size:
8,670 bases
Orientation:
Minus strand

Genomic View for A4GNT Gene

Genes around A4GNT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
A4GNT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for A4GNT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for A4GNT Gene

Proteins for A4GNT Gene

  • Protein details for A4GNT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNA3-A4GCT_HUMAN
    Recommended name:
    Alpha-1,4-N-acetylglucosaminyltransferase
    Protein Accession:
    Q9UNA3
    Secondary Accessions:
    • Q0VDK1
    • Q0VDK2

    Protein attributes for A4GNT Gene

    Size:
    340 amino acids
    Molecular mass:
    39497 Da
    Quaternary structure:
    No Data Available

neXtProt entry for A4GNT Gene

Post-translational modifications for A4GNT Gene

  • Glycosylation at Asn99, Asn138, Asn251, and Asn282
  • Modification sites at PhosphoSitePlus

Other Protein References for A4GNT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for A4GNT Gene

Domains & Families for A4GNT Gene

Gene Families for A4GNT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for A4GNT Gene

InterPro:
Blocks:
  • Alpha 1,4-glycosyltransferase conserved region
ProtoNet:

Suggested Antigen Peptide Sequences for A4GNT Gene

GenScript: Design optimal peptide antigens:
  • Alpha-1,4-N-acetylglucosaminyltransferase (A4GCT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNA3

UniProtKB/Swiss-Prot:

A4GCT_HUMAN :
  • The conserved DXD motif is involved in enzyme activity.
  • Belongs to the glycosyltransferase 32 family.
Domain:
  • The conserved DXD motif is involved in enzyme activity.
Family:
  • Belongs to the glycosyltransferase 32 family.
genes like me logo Genes that share domains with A4GNT: view

Function for A4GNT Gene

Molecular function for A4GNT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans (PubMed:10430883). Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct (PubMed:10430883). May protect against inflammation-associated gastric adenocarcinomas (By similarity).

Enzyme Numbers (IUBMB) for A4GNT Gene

Phenotypes From GWAS Catalog for A4GNT Gene

Gene Ontology (GO) - Molecular Function for A4GNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA,TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IBA 21873635
genes like me logo Genes that share ontologies with A4GNT: view
genes like me logo Genes that share phenotypes with A4GNT: view

Animal Models for A4GNT Gene

MGI Knock Outs for A4GNT:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A4GNT

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for A4GNT Gene

Localization for A4GNT Gene

Subcellular locations from UniProtKB/Swiss-Prot for A4GNT Gene

Golgi apparatus membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for A4GNT gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 1
cytosol 1
plasma membrane 0
lysosome 0

Gene Ontology (GO) - Cellular Components for A4GNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane TAS 10430883
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with A4GNT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for A4GNT Gene

Pathways & Interactions for A4GNT Gene

genes like me logo Genes that share pathways with A4GNT: view

UniProtKB/Swiss-Prot Q9UNA3-A4GCT_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for A4GNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10430883
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IEA,IBA 21873635
GO:0009101 glycoprotein biosynthetic process IDA 10430883
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with A4GNT: view

No data available for SIGNOR curated interactions for A4GNT Gene

Drugs & Compounds for A4GNT Gene

No Compound Related Data Available

Transcripts for A4GNT Gene

mRNA/cDNA for A4GNT Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A4GNT

Alternative Splicing Database (ASD) splice patterns (SP) for A4GNT Gene

No ASD Table

Relevant External Links for A4GNT Gene

GeneLoc Exon Structure for
A4GNT

Expression for A4GNT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for A4GNT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for A4GNT Gene

This gene is overexpressed in Stomach (x19.3) and Pancreas (x12.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for A4GNT

SOURCE GeneReport for Unigene cluster for A4GNT Gene:

Hs.278960

mRNA Expression by UniProt/SwissProt for A4GNT Gene:

Q9UNA3-A4GCT_HUMAN
Tissue specificity: Detected in stomach and pancreas.

Evidence on tissue expression from TISSUES for A4GNT Gene

  • Stomach(4.5)
genes like me logo Genes that share expression patterns with A4GNT: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for A4GNT Gene

Orthologs for A4GNT Gene

This gene was present in the common ancestor of animals.

Orthologs for A4GNT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia A4GNT 30 31
  • 98.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia A4GNT 30 31
  • 83.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia A4GNT 30 31
  • 83.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia A4gnt 30
  • 78.63 (n)
Mouse
(Mus musculus)
Mammalia A4gnt 30 17 31
  • 77.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia A4GNT 31
  • 71 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia A4GNT 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves A4GNT 30 31
  • 66.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia A4GNT 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733902 30
  • 61.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alpha4GT1 31
  • 21 (a)
ManyToMany
alpha4GT2 31
  • 18 (a)
ManyToMany
Species where no ortholog for A4GNT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for A4GNT Gene

ENSEMBL:
Gene Tree for A4GNT (if available)
TreeFam:
Gene Tree for A4GNT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for A4GNT: view image

Paralogs for A4GNT Gene

Paralogs for A4GNT Gene

(1) SIMAP similar genes for A4GNT Gene using alignment to 1 proteins:

  • A4GCT_HUMAN

Pseudogenes.org Pseudogenes for A4GNT Gene

genes like me logo Genes that share paralogs with A4GNT: view

Variants for A4GNT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for A4GNT Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
713695 Likely Benign: not provided 138,124,491(-) G/A NONSENSE
rs2246945 - p.Ala218Asp

Additional dbSNP identifiers (rs#s) for A4GNT Gene

Structural Variations from Database of Genomic Variants (DGV) for A4GNT Gene

Variant ID Type Subtype PubMed ID
esv2751978 CNV loss 17911159
esv2759180 CNV loss 17122850
esv2762347 CNV gain 21179565
esv3442853 CNV insertion 20981092
esv3597911 CNV gain 21293372
nsv1007857 CNV gain 25217958
nsv428422 CNV gain+loss 18775914
nsv998106 CNV gain 25217958

Variation tolerance for A4GNT Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for A4GNT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
A4GNT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for A4GNT Gene

Disorders for A4GNT Gene

MalaCards: The human disease database

(2) MalaCards diseases for A4GNT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
borna disease
  • enzootic encephalomyelitis
tumor of exocrine pancreas
  • malignant neoplasm of the exocrine pancreas
- elite association - COSMIC cancer census association via MalaCards
Search A4GNT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for A4GNT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with A4GNT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for A4GNT Gene

Publications for A4GNT Gene

  1. Expression cloning of a human alpha1, 4-N-acetylglucosaminyltransferase that forms GlcNAcalpha1-->4Galbeta-->R, a glycan specifically expressed in the gastric gland mucous cell-type mucin. (PMID: 10430883) Nakayama J … Fukuda M (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Genetic variation in a4GnT in relation to Helicobacter pylori serology and gastric cancer risk. (PMID: 19751437) Zheng Z … Ye W (Helicobacter 2009) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Immunohistochemical demonstration of alpha1,4-N-acetylglucosaminyltransferase that forms GlcNAcalpha1,4Galbeta residues in human gastrointestinal mucosa. (PMID: 11304796) Zhang MX … Fukuda M (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2001) 3 23

Products for A4GNT Gene

  • Signalway Proteins for A4GNT

Sources for A4GNT Gene