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    GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type [ Homo sapiens (human) ]

    Gene ID: 9245, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GCNT3provided by HGNC
    Official Full Name
    glucosaminyl (N-acetyl) transferase 3, mucin typeprovided by HGNC
    Primary source
    HGNC:HGNC:4205
    See related
    Ensembl:ENSG00000140297 MIM:606836; AllianceGenome:HGNC:4205
    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
    GNTM; C24GNT; C2GNT2; C2GNTM; C2/4GnT
    Summary
    This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]
    Expression
    Biased expression in colon (RPKM 74.9), small intestine (RPKM 64.2) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GCNT3 in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59611783..59622723)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (57413480..57424422)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59903982..59914922)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 117 Neighboring gene RNA, 5S ribosomal pseudogene 396 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:59908775-59909010 Neighboring gene general transcription factor IIA subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9499 Neighboring gene BCL2 interacting protein 2 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H pseudogene 1

    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
    • 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. Characterization of mice with targeted deletion of the gene encoding core 2 beta1,6-N-acetylglucosaminyltransferase-2. Stone EL, et al. Methods Enzymol, 2010. PMID 20816165
    2. Functional analysis of GCNT3 for cell migration and EMT of castration-resistant prostate cancer cells. Yamamoto D, et al. Glycobiology, 2022 Sep 19. PMID 35867813
    3. Control of O-glycan branch formation. Molecular cloning of human cDNA encoding a novel beta1,6-N-acetylglucosaminyltransferase forming core 2 and core 4. Schwientek T, et al. J Biol Chem, 1999 Feb 19. PMID 9988682
    4. C2GnT-M is downregulated in colorectal cancer and its re-expression causes growth inhibition of colon cancer cells. Huang MC, et al. Oncogene, 2006 Jun 1. PMID 16418723
    5. Global analysis of human glycosyltransferases reveals novel targets for pancreatic cancer pathogenesis. Gupta R, et al. Br J Cancer, 2020 May. PMID 32203219, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GCNT3 regulated MUC13 to promote the development of hepatocellular carcinoma through the GSK3beta/beta-catenin pathway.
      Title: GCNT3 regulated MUC13 to promote the development of hepatocellular carcinoma through the GSK3β/β-catenin pathway.
    2. Functional analysis of GCNT3 for cell migration and EMT of castration-resistant prostate cancer cells.
      Title: Functional analysis of GCNT3 for cell migration and EMT of castration-resistant prostate cancer cells.
    3. LINC00511 enhances LUAD malignancy by upregulating GCNT3 via miR-195-5p.
      Title: LINC00511 enhances LUAD malignancy by upregulating GCNT3 via miR-195-5p.
    4. Global analysis of human glycosyltransferases reveals novel targets for pancreatic cancer pathogenesis.
      Title: Global analysis of human glycosyltransferases reveals novel targets for pancreatic cancer pathogenesis.
    5. High GCNT3 expression is associated with metastatic melanomas.
      Title: β-1,3-Galactosyl-O-Glycosyl-Glycoprotein β-1,6-N-Acetylglucosaminyltransferase 3 Increases MCAM Stability, Which Enhances S100A8/A9-Mediated Cancer Motility.
    6. GCNT3 was regarded as an oncogene in non-small cell lung cancer, and a target of miR-302b-3p, which regulated cell proliferation, migration and invasion in a GCNT3-dependent manner and E-cadherin, N-cadherin, vimentin, cyclin D1 and p-Erk appeared to be downstream molecules of the miR-302b-3p/GCNT3 pathway.
      Title: Downregulation of N-Acetylglucosaminyltransferase GCNT3 by miR-302b-3p Decreases Non-Small Cell Lung Cancer (NSCLC) Cell Proliferation, Migration and Invasion.
    7. In this Molecular Pathways article, we briefly discuss the potential role of mucin synthesis in cancers, ways to improve drug delivery and disrupt mucin mesh to overcome chemoresistance by targeting mucin synthesis, and the unique opportunity to target the GCNT3 pathway for the prevention and treatment of cancers.
      Title: Molecular Pathways: Mucins and Drug Delivery in Cancer.
    8. This study provides the concepts toward the design of carbohydrate-dependent inhibition of EPEC and EHEC O157:H7 adhesion to human intestinal epithelial cells.
      Title: Core 2 Mucin-Type O-Glycan Is Related to EPEC and EHEC O157:H7 Adherence to Human Colon Carcinoma HT-29 Epithelial Cells.
    9. In HeLa cells transiently expressing C2GnT-M-GFP, knockdown of KRT1 does not affect Golgi morphology but leaves C2GnT-M outside of the Golgi, resulting in the formation of sialyl-T antigen.
      Title: Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail.
    10. low GCNT3 expression is a promising prognostic biomarker for colon cancer that could be used to identify early-stage colon cancer patients at high risk of relapse.
      Title: Clinical relevance of the differential expression of the glycosyltransferase gene GCNT3 in colon cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intestinal absorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3
    Names
    C2GnT-mucin type
    beta1,6-N-acetylglucosaminyltransferase-M
    beta1,6GlcNAc-transferase
    core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase
    hC2GnT-M
    mucus-type core 2 beta-1,6-N-acetylglucosaminyltransferase
    NP_001413591.1
    NP_004742.1

    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_001426662.1 → NP_001413591.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      CP068263

    2. NM_004751.3 → NP_004742.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform 1

      See identical proteins and their annotated locations for NP_004742.1

      Status: REVIEWED

      Source sequence(s)
      AC092755, BC017032, BP243086
      Consensus CDS
      CCDS10172.1
      UniProtKB/Swiss-Prot
      O95395
      UniProtKB/TrEMBL
      B2R758
      Related
      ENSP00000379377.1, ENST00000396065.3
      Conserved Domains (1) summary
      pfam02485
      Location:133 → 401
      Branch; Core-2/I-Branching enzyme

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      59611783..59622723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      57413480..57424422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95395.1 GenPept UniProtKB/Swiss-Prot:O95395

    Gene LinkOut

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

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