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    C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 56913, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C1GALT1provided by HGNC
    Official Full Name
    core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:24337
    See related
    Ensembl:ENSG00000106392 MIM:610555; AllianceGenome:HGNC:24337
    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
    C1GALT; T-synthase
    Summary
    The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.5), duodenum (RPKM 6.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1GALT1 in Genome Data Viewer
    Location:
    7p22.1-p21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7157377..7248616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7301750..7367825)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7222175..7288247)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375138 Neighboring gene zinc finger protein 655 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:7131844-7132012 Neighboring gene uncharacterized LOC124901584 Neighboring gene CRISPRi-validated cis-regulatory element chr7.922 Neighboring gene CRISPRi-validated cis-regulatory element chr7.924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:7240975-7241493 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:7249044-7249615 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:7249616-7250186 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:7250187-7250758 Neighboring gene uncharacterized LOC107986764 Neighboring gene long intergenic non-protein coding RNA 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25640 Neighboring gene collagen type XXVIII alpha 1 chain Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:7478283-7479482 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:7505040-7505723

    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 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. High core 1β1,3-galactosyltransferase 1 expression is associated with poor prognosis and promotes cellular radioresistance in lung adenocarcinoma. Chen Y, et al. J Cancer Res Clin Oncol, 2024 Apr 25. PMID 38662050, Free PMC Article
    2. Association between C1GALT1 variants and genetic susceptibility to IgA nephropathy in Uygur. Li WL, et al. Genet Mol Res, 2015 May 22. PMID 26125729
    3. O-GlcNAcylation determines the function of the key O-GalNAc glycosyltransferase C1GalT1 in bladder cancer. Jiang Y, et al. Acta Biochim Biophys Sin (Shanghai), 2024 Aug 8. PMID 39126245, Free PMC Article
    4. Relationship between rs1047763 polymorphism of the C1GALT1 gene and susceptibility to immunoglobulin A nephropathy in Xinjiang Uyghur people. Xue JN, et al. Genet Mol Res, 2015 Dec 29. PMID 26782518
    5. C1GALT1 enhances proliferation of hepatocellular carcinoma cells via modulating MET glycosylation and dimerization. Wu YM, et al. Cancer Res, 2013 Sep 1. PMID 23832667

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. O-GlcNAcylation determines the function of the key O-GalNAc glycosyltransferase C1GalT1 in bladder cancer.
      Title: O-GlcNAcylation determines the function of the key O-GalNAc glycosyltransferase C1GalT1 in bladder cancer.
    2. Inhibition of the galactosyltransferase C1GALT1 reduces osteosarcoma cell proliferation by interfering with ERK signaling and cell cycle progression.
      Title: Inhibition of the galactosyltransferase C1GALT1 reduces osteosarcoma cell proliferation by interfering with ERK signaling and cell cycle progression.
    3. High core 1beta1,3-galactosyltransferase 1 expression is associated with poor prognosis and promotes cellular radioresistance in lung adenocarcinoma.
      Title: High core 1β1,3-galactosyltransferase 1 expression is associated with poor prognosis and promotes cellular radioresistance in lung adenocarcinoma.
    4. Truncation of GalNAc-type O-glycans Suppresses CD44-mediated Osteoclastogenesis and Bone Metastasis in Breast Cancer.
      Title: Truncation of GalNAc-type O-glycans Suppresses CD44-mediated Osteoclastogenesis and Bone Metastasis in Breast Cancer.
    5. Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer.
      Title: Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer.
    6. Interaction between G ALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
      Title: Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
    7. Elevated miR-124-3p in the aging colon disrupts mucus barrier and increases susceptibility to colitis by targeting T-synthase.
      Title: Elevated miR-124-3p in the aging colon disrupts mucus barrier and increases susceptibility to colitis by targeting T-synthase.
    8. C1GALT1 high expression is associated with poor survival of patients with pancreatic ductal adenocarcinoma and promotes cell invasiveness through integrin alphav.
      Title: C1GALT1 high expression is associated with poor survival of patients with pancreatic ductal adenocarcinoma and promotes cell invasiveness through integrin α(v).
    9. Association analysis of DNA methyltransferases in IgA nephropathy.
      Title: Association analysis of DNA methyltransferases in IgA nephropathy.
    10. C1GALT1 is associated with poor survival and promotes soluble Ephrin A1-mediated cell migration through activation of EPHA2 in gastric cancer.
      Title: C1GALT1 is associated with poor survival and promotes soluble Ephrin A1-mediated cell migration through activation of EPHA2 in gastric cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    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

    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 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intestinal epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
    Names
    B3Gal-T8
    core 1 O-glycan T-synthase
    core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1
    core 1 beta3-Gal-T1
    epididymis secretory sperm binding protein
    NP_064541.1
    XP_011513758.1
    XP_016867931.1
    XP_016867933.1
    XP_016867934.1
    XP_016867937.1
    XP_016867938.1
    XP_024302606.1
    XP_047276573.1
    XP_047276574.1
    XP_047276575.1
    XP_047276576.1
    XP_047276577.1
    XP_047276578.1
    XP_047276579.1
    XP_047276580.1
    XP_054214635.1
    XP_054214636.1
    XP_054214637.1
    XP_054214638.1
    XP_054214639.1
    XP_054214640.1
    XP_054214641.1
    XP_054214642.1
    XP_054214643.1
    XP_054214644.1
    XP_054214645.1
    XP_054214646.1
    XP_054214647.1

    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.

    Genomic

    1. NG_027732.1 RefSeqGene

      Range
      4930..71002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020156.5 → NP_064541.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

      See identical proteins and their annotated locations for NP_064541.1

      Status: REVIEWED

      Source sequence(s)
      AC005532
      Consensus CDS
      CCDS5355.1
      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Related
      ENSP00000389176.2, ENST00000436587.7
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      7157377..7248616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420620.1 → XP_047276576.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    2. XM_047420623.1 → XP_047276579.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Related
      ENSP00000223122.2, ENST00000223122.4

    3. XM_047420617.1 → XP_047276573.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    4. XM_017012444.2 → XP_016867933.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    5. XM_017012445.2 → XP_016867934.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    6. XM_047420621.1 → XP_047276577.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    7. XM_047420618.1 → XP_047276574.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    8. XM_047420619.1 → XP_047276575.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    9. XM_047420622.1 → XP_047276578.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    10. XM_011515456.3 → XP_011513758.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011513758.1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    11. XM_017012442.2 → XP_016867931.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    12. XM_024446838.2 → XP_024302606.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    13. XM_017012448.1 → XP_016867937.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107 → 221
      Galactosyl_T; Galactosyltransferase

    14. XM_047420624.1 → XP_047276580.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    15. XM_017012449.3 → XP_016867938.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      7301750..7367825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358666.1 → XP_054214641.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    2. XM_054358667.1 → XP_054214642.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    3. XM_054358669.1 → XP_054214644.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    4. XM_054358663.1 → XP_054214638.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    5. XM_054358664.1 → XP_054214639.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    6. XM_054358670.1 → XP_054214645.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    7. XM_054358662.1 → XP_054214637.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    8. XM_054358668.1 → XP_054214643.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    9. XM_054358661.1 → XP_054214636.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    10. XM_054358665.1 → XP_054214640.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    11. XM_054358660.1 → XP_054214635.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32

    12. XM_054358672.1 → XP_054214647.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    13. XM_054358671.1 → XP_054214646.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS00.1 GenPept UniProtKB/Swiss-Prot:Q9NS00

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