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

    Gene ID: 56913, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    Genomic

    1. NG_027732.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_020156.5NP_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:107221
      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_047420620.1XP_047276576.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    2. XM_047420623.1XP_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_047420617.1XP_047276573.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    4. XM_017012444.2XP_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:107221
      Galactosyl_T; Galactosyltransferase
    5. XM_017012445.2XP_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:107221
      Galactosyl_T; Galactosyltransferase
    6. XM_047420621.1XP_047276577.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    7. XM_047420618.1XP_047276574.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    8. XM_047420619.1XP_047276575.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    9. XM_047420622.1XP_047276578.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    10. XM_011515456.3XP_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:107221
      Galactosyl_T; Galactosyltransferase
    11. XM_017012442.2XP_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:107221
      Galactosyl_T; Galactosyltransferase
    12. XM_024446838.2XP_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:107221
      Galactosyl_T; Galactosyltransferase
    13. XM_017012448.1XP_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:107221
      Galactosyl_T; Galactosyltransferase
    14. XM_047420624.1XP_047276580.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

    15. XM_017012449.3XP_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_054358666.1XP_054214641.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    2. XM_054358667.1XP_054214642.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    3. XM_054358669.1XP_054214644.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    4. XM_054358663.1XP_054214638.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    5. XM_054358664.1XP_054214639.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    6. XM_054358670.1XP_054214645.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    7. XM_054358662.1XP_054214637.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    8. XM_054358668.1XP_054214643.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    9. XM_054358661.1XP_054214636.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    10. XM_054358665.1XP_054214640.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    11. XM_054358660.1XP_054214635.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96QH4, Q9BTU1, Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
    12. XM_054358672.1XP_054214647.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

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