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    GCNT4 glucosaminyl (N-acetyl) transferase 4 [ Homo sapiens (human) ]

    Gene ID: 51301, updated on 17-Mar-2024

    Summary

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    Official Symbol
    GCNT4provided by HGNC
    Official Full Name
    glucosaminyl (N-acetyl) transferase 4provided by HGNC
    Primary source
    HGNC:HGNC:17973
    See related
    Ensembl:ENSG00000176928 MIM:616782; AllianceGenome:HGNC:17973
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2GNT3; LINC01336
    Summary
    Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing and carbohydrate metabolic process. Predicted to act upstream of or within several processes, including inter-male aggressive behavior; kidney morphogenesis; and thyroid hormone metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75016969..75054060, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75497819..75535608, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74321171..74348383, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379040 Neighboring gene Sharpr-MPRA regulatory region 2499 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74269438-74269939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22677 Neighboring gene ribosomal protein L27a pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74302578-74303200 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:74332401-74333600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16100 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:74351485-74352075 Neighboring gene ankyrin repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16101 Neighboring gene uncharacterized LOC124901006 Neighboring gene SUMO2 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Control of O-glycan branch formation. Molecular cloning and characterization of a novel thymus-associated core 2 beta1, 6-n-acetylglucosaminyltransferase. Schwientek T, et al. J Biol Chem, 2000 Apr 14. PMID 10753916
    2. Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop. Li P, et al. Toxicol In Vitro, 2022 Dec. PMID 35970245
    3. MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-β1/SMAD3 pathway. Hu W, et al. Bioengineered, 2021 Dec. PMID 34696660, Free PMC Article
    4. Identification and initial characterization of 5000 expressed sequenced tags (ESTs) each from adult human normal and osteoarthritic cartilage cDNA libraries. Kumar S, et al. Osteoarthritis Cartilage, 2001 Oct. PMID 11597177
    5. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircPRDM5 inhibits the proliferation, migration, invasion, and glucose metabolism of gastric cancer cells by reducing GCNT4 expression in a miR-485-3p-dependent manner.
      Title: CircPRDM5 inhibits the proliferation, migration, invasion, and glucose metabolism of gastric cancer cells by reducing GCNT4 expression in a miR-485-3p-dependent manner.
    2. Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop.
      Title: Circ_0005758 impedes gastric cancer progression through miR-1229-3p/GCNT4 feedback loop.
    3. MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-beta1/SMAD3 pathway.
      Title: MicroRNA MiR-130a-3p promotes gastric cancer by targeting Glucosaminyl N-acetyl transferase 4 (GCNT4) to regulate the TGF-β1/SMAD3 pathway.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inter-male aggressive behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutrophil homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in thyroid hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4
    Names
    core 2 beta-1,6-N-acetylglucosaminyltransferase 3
    core 2-branching enzyme 3
    core2-GlcNAc-transferase 3
    glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
    long intergenic non-protein coding RNA 1336
    NP_001353666.1
    XP_047273227.1
    XP_047273228.1
    XP_047273229.1
    XP_047273230.1
    XP_047273231.1
    XP_047273232.1
    XP_047273233.1
    XP_047273234.1
    XP_047273235.1
    XP_047273236.1
    XP_047273237.1
    XP_054208725.1
    XP_054208726.1
    XP_054208727.1
    XP_054208728.1
    XP_054208729.1
    XP_054208730.1
    XP_054208731.1
    XP_054208732.1
    XP_054208733.1
    XP_054208734.1
    XP_054208735.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001366737.1 → NP_001353666.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4

      Status: VALIDATED

      Source sequence(s)
      AC093259
      Consensus CDS
      CCDS4026.1
      UniProtKB/Swiss-Prot
      Q9P109
      Related
      ENSP00000498836.1, ENST00000652361.2
      Conserved Domains (1) summary
      cl27418
      Location:133 → 402
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      75016969..75054060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417280.1 → XP_047273236.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109
      Related
      ENSP00000317027.4, ENST00000322348.5

    2. XM_047417272.1 → XP_047273228.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    3. XM_047417276.1 → XP_047273232.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    4. XM_047417274.1 → XP_047273230.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    5. XM_047417278.1 → XP_047273234.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    6. XM_047417273.1 → XP_047273229.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    7. XM_047417275.1 → XP_047273231.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    8. XM_047417281.1 → XP_047273237.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    9. XM_047417271.1 → XP_047273227.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    10. XM_047417279.1 → XP_047273235.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    11. XM_047417277.1 → XP_047273233.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    RNA

    1. XR_007058605.1 RNA Sequence

    2. XR_007058606.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75497819..75535608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352759.1 → XP_054208734.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    2. XM_054352751.1 → XP_054208726.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    3. XM_054352755.1 → XP_054208730.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    4. XM_054352753.1 → XP_054208728.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    5. XM_054352757.1 → XP_054208732.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    6. XM_054352752.1 → XP_054208727.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    7. XM_054352754.1 → XP_054208729.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    8. XM_054352760.1 → XP_054208735.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    9. XM_054352750.1 → XP_054208725.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    10. XM_054352758.1 → XP_054208733.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    11. XM_054352756.1 → XP_054208731.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9P109

    RNA

    1. XR_008487122.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016591.2: Suppressed sequence

      Description
      NM_016591.2: This RefSeq was removed because currently there is insufficient support for the transcript.

    2. NR_126375.1: Suppressed sequence

      Description
      NR_126375.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P109.1 GenPept UniProtKB/Swiss-Prot:Q9P109

    Gene LinkOut

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

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