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Aliases for GCNT1 Gene

Aliases for GCNT1 Gene

  • Glucosaminyl (N-Acetyl) Transferase 1, Core 2 2 3 5
  • Glucosaminyl (N-Acetyl) Transferase 1, Core 2 (Beta-1,6-N-Acetylglucosaminyltransferase) 2 3
  • Beta-1,3-Galactosyl-O-Glycosyl-Glycoprotein Beta-1,6-N--Acetylglucosaminyltransferase 2 3
  • Core 2 Beta1,6 N-Acetylglucosaminyltransferase-I 2 3
  • Core2-GlcNAc-Transferase 3 4
  • Core 2-Branching Enzyme 3 4
  • NACGT2 3 4
  • C2GNT 3 4
  • Core 2 Beta-1,6-N-Acetylglucosaminyltransferase I 3
  • Beta-1,6-N-Acetylglucosaminyltransferase 3
  • Core 2 Branching Enzyme 3
  • EC 2.4.1.102 4
  • Core 2 GnT 3
  • Core 2 GNT 4
  • C2GNT-L 3
  • C2GNT1 3
  • NAGCT2 3
  • G6NT 3

External Ids for GCNT1 Gene

Previous HGNC Symbols for GCNT1 Gene

  • NACGT2

Previous GeneCards Identifiers for GCNT1 Gene

  • GC09P070160
  • GC09P070930
  • GC09P072644
  • GC09P074531
  • GC09P076303
  • GC09P078263
  • GC09P079035
  • GC09P048885
  • GC09P079036

Summaries for GCNT1 Gene

Entrez Gene Summary for GCNT1 Gene

  • This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for GCNT1 Gene

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1, Core 2) is a Protein Coding gene. Among its related pathways are Metabolism and Mucin type O-Glycan biosynthesis. GO annotations related to this gene include acetylglucosaminyltransferase activity and beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is XYLT2.

UniProtKB/Swiss-Prot for GCNT1 Gene

  • Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes.

Gene Wiki entry for GCNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCNT1 Gene

Genomics for GCNT1 Gene

Regulatory Elements for GCNT1 Gene

Enhancers for GCNT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCNT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GCNT1 Gene

Chromosome:
9
Start:
76,419,850 bp from pter
End:
76,507,416 bp from pter
Size:
87,567 bases
Orientation:
Plus strand

Genomic View for GCNT1 Gene

Genes around GCNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT1 Gene

Proteins for GCNT1 Gene

  • Protein details for GCNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02742-GCNT1_HUMAN
    Recommended name:
    Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
    Protein Accession:
    Q02742
    Secondary Accessions:
    • Q6DJZ4

    Protein attributes for GCNT1 Gene

    Size:
    428 amino acids
    Molecular mass:
    49799 Da
    Quaternary structure:
    • Interacts with GOLPH3; may control GCNT1 retention in the Golgi.

neXtProt entry for GCNT1 Gene

Proteomics data for GCNT1 Gene at MOPED

Post-translational modifications for GCNT1 Gene

  • Glycosylation at Asn 58 and Asn 95
  • Modification sites at PhosphoSitePlus

Other Protein References for GCNT1 Gene

Antibody Products

  • R&D Systems Antibodies for GCNT1 (Glucosaminyl (N-acetyl) Transferase 1/GCNT1)
  • Abcam antibodies for GCNT1

No data available for DME Specific Peptides for GCNT1 Gene

Domains & Families for GCNT1 Gene

Protein Domains for GCNT1 Gene

Suggested Antigen Peptide Sequences for GCNT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02742

UniProtKB/Swiss-Prot:

GCNT1_HUMAN :
  • Belongs to the glycosyltransferase 14 family.
Family:
  • Belongs to the glycosyltransferase 14 family.
genes like me logo Genes that share domains with GCNT1: view

Function for GCNT1 Gene

Molecular function for GCNT1 Gene

GENATLAS Biochemistry:
beta-1,6-N-acetyl-glucosaminyl transferase 1,leukocyte type core 2 branching enzyme in O-glycans,widely expressed,including lymph node and bone marrow
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,3-N-acetyl-D-galactosaminyl-R = UDP + beta-D-galactosyl-1,3-(N-acetyl-beta-D-glucosaminyl-1,6)-N-acetyl-D-galactosaminyl-R.
UniProtKB/Swiss-Prot Function:
Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes.

Enzyme Numbers (IUBMB) for GCNT1 Gene

genes like me logo Genes that share phenotypes with GCNT1: view

Animal Models for GCNT1 Gene

MGI Knock Outs for GCNT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GCNT1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GCNT1 Gene

Localization for GCNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCNT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Note=Also detected in the trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCNT1 Gene COMPARTMENTS Subcellular localization image for GCNT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GCNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network IDA 23027862
GO:0016021 integral component of membrane IEA --
GO:0031985 Golgi cisterna IDA 23027862
genes like me logo Genes that share ontologies with GCNT1: view

Pathways & Interactions for GCNT1 Gene

genes like me logo Genes that share pathways with GCNT1: view

Pathways by source for GCNT1 Gene

UniProtKB/Swiss-Prot Q02742-GCNT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GCNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009101 glycoprotein biosynthetic process IMP 23027862
GO:0016266 O-glycan processing TAS --
GO:0032868 response to insulin IEA --
GO:0048729 tissue morphogenesis IEA --
GO:0050901 leukocyte tethering or rolling IMP 23027862
genes like me logo Genes that share ontologies with GCNT1: view

No data available for SIGNOR curated interactions for GCNT1 Gene

Drugs & Compounds for GCNT1 Gene

(2) Drugs for GCNT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(5) Additional Compounds for GCNT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GCNT1: view

Transcripts for GCNT1 Gene

Unigene Clusters for GCNT1 Gene

Glucosaminyl (N-acetyl) transferase 1, core 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCNT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - -
SP2: - - - -
SP3: -
SP4: - - - - -
SP5:
SP6:

Relevant External Links for GCNT1 Gene

GeneLoc Exon Structure for
GCNT1
ECgene alternative splicing isoforms for
GCNT1

Expression for GCNT1 Gene

mRNA expression in normal human tissues for GCNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCNT1 Gene

This gene is overexpressed in Stomach (x4.3).

Protein differential expression in normal tissues from HIPED for GCNT1 Gene

This gene is overexpressed in Stomach (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GCNT1 Gene



SOURCE GeneReport for Unigene cluster for GCNT1 Gene Hs.521568

mRNA Expression by UniProt/SwissProt for GCNT1 Gene

Q02742-GCNT1_HUMAN
Tissue specificity: Highly expressed in activated T-lymphocytes and myeloid cells.
genes like me logo Genes that share expression patterns with GCNT1: view

Protein tissue co-expression partners for GCNT1 Gene

Primer Products

Orthologs for GCNT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GCNT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GCNT1 35
  • 84.27 (n)
  • 84.98 (a)
GCNT1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCNT1 35
  • 85.57 (n)
  • 88.04 (a)
GCNT1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt1 35
  • 83.49 (n)
  • 85.17 (a)
Gcnt1 16
Gcnt1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCNT1 35
  • 98.99 (n)
  • 99.07 (a)
GCNT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcnt1 35
  • 83.85 (n)
  • 84.65 (a)
oppossum
(Monodelphis domestica)
Mammalia GCNT1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCNT1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCNT1 35
  • 71.85 (n)
  • 73.83 (a)
GCNT1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCNT1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcnt1 35
  • 67.41 (n)
  • 64.85 (a)
African clawed frog
(Xenopus laevis)
Amphibia gcnt1-prov 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for GCNT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 GCNT1 Gene

ENSEMBL:
Gene Tree for GCNT1 (if available)
TreeFam:
Gene Tree for GCNT1 (if available)

Paralogs for GCNT1 Gene

Paralogs for GCNT1 Gene

(8) SIMAP similar genes for GCNT1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GCNT1: view

Variants for GCNT1 Gene

Sequence variations from dbSNP and Humsavar for GCNT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2282683 - 76,502,835(+) ATTGC(A/G)TTCAT reference, missense
rs11546569 - 76,502,854(+) AAAAT(C/G)CGAGG reference, missense
rs636654 -- 76,491,829(+) atttg(A/G)agcac intron-variant
rs638410 -- 76,484,285(+) ggtgg(A/T)aggat intron-variant
rs639335 -- 76,484,481(+) TTTca(A/G)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GCNT1 Gene

Variant ID Type Subtype PubMed ID
nsv893478 CNV Gain 21882294
nsv893479 CNV Gain 21882294
nsv520423 CNV Loss 19592680
esv2304624 CNV Deletion 18987734
esv2738598 CNV Deletion 23290073
nsv893480 CNV Gain 21882294
nsv437089 CNV Loss 16327808
nsv515152 CNV Loss 21397061

Variation tolerance for GCNT1 Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.10; 80.50% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GCNT1 Gene

Disorders for GCNT1 Gene

Relevant External Links for GCNT1

Genetic Association Database (GAD)
GCNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCNT1

No disorders were found for GCNT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GCNT1 Gene

Publications for GCNT1 Gene

  1. Genomic organization of core 2 and I branching beta-1,6-N- acetylglucosaminyltransferases. Implication for evolution of the beta- 1,6-N-acetylglucosaminyltransferase gene family. (PMID: 7579796) Bierhuizen M.F.A. … Fukuda M. (Glycobiology 1995) 3 4 23 67
  2. Molecular cloning and expression of a novel beta-1, 6-N- acetylglucosaminyltransferase that forms core 2, core 4, and I branches. (PMID: 9915862) Yeh J.-C. … Fukuda M. (J. Biol. Chem. 1999) 2 3 23
  3. The high affinity selectin glycan ligand C2-O-sLex and mRNA transcripts of the core 2 beta-1,6-N-acetylglucosaminyltransferase (C2GnT1) gene are highly expressed in human colorectal adenocarcinomas. (PMID: 19267921) St Hill C.A. … Walcheck B. (BMC Cancer 2009) 3 23
  4. Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2. (PMID: 19524017) Brockhausen I. … Paulsen H. (Biochim. Biophys. Acta 2009) 3 23
  5. Pancreas carcinoma antigen fused to invariant chain elicits T-cell response and tumor growth inhibition. (PMID: 18815556) Nagaraj S. … Schmidt-Wolf I.G. (Pancreas 2008) 3 23

Products for GCNT1 Gene

Sources for GCNT1 Gene

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