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

Gene ID: 9245, updated on 3-Apr-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
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Genomic context

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Location:
15q22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59549039..59622723)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (57413480..57424422)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59903982..59914922)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9493 Neighboring gene family with sequence similarity 81 member A Neighboring gene ribosomal protein L7a pseudogene 75 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:59721031-59721227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9497 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:59826686-59827885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6491 Neighboring gene ribosomal protein L21 pseudogene 114 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:59835403-59836602 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:59840860-59841630 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:59841631-59842401 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 ATAC-STARR-seq lymphoblastoid active region 9499 Neighboring gene general transcription factor IIA subunit 2 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. 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
  2. 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
  3. Core 2 Mucin-Type O-Glycan Is Related to EPEC and EHEC O157:H7 Adherence to Human Colon Carcinoma HT-29 Epithelial Cells. Ye J, et al. Dig Dis Sci, 2015 Jul. PMID 25701318
  4. Clinical relevance of the differential expression of the glycosyltransferase gene GCNT3 in colon cancer. González-Vallinas M, et al. Eur J Cancer, 2015 Jan. PMID 25466507
  5. 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

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. LINC00511 enhances LUAD malignancy by upregulating GCNT3 via miR-195-5p.
    Title: LINC00511 enhances LUAD malignancy by upregulating GCNT3 via miR-195-5p.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Golgi fragmentation is accompanied by the increased association of NMIIA with C2GnT-M and its degradation by proteasomes.
    Title: A non-enzymatic function of Golgi glycosyltransferases: mediation of Golgi fragmentation by interaction with non-muscle myosin IIA.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

Genotypes

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-seryl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables acetylgalactosaminyl-O-glycosyl-threonyl-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_004742.1
XP_047289297.1
XP_047289298.1
XP_047289299.1
XP_047289300.1

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_2023_10

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
    59549039..59622723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433344.1 → XP_047289300.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    O95395

  2. XM_047433343.1 → XP_047289299.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    O95395

  3. XM_047433342.1 → XP_047289298.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    O95395

  4. XM_047433341.1 → XP_047289297.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    O95395

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

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