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

    Gene ID: 56913, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000151912
    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]
    Orthologs
    Location:
    7p22.1-p21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (7182547..7248651)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7222178..7288282)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375138 Neighboring gene zinc finger protein 655 pseudogene Neighboring gene microRNA 3683 Neighboring gene uncharacterized LOC101927354 Neighboring gene uncharacterized LOC107986764 Neighboring gene collagen type XXVIII alpha 1 chain

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    O-glycan processing, core 1 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intestinal epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    NP_064541.1

    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
      5001..71037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020156.4NP_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)
      AA443459, AC005532, AF155582, AI400132, CN360565, DA977378, DB106731, DB136152
      Consensus CDS
      CCDS5355.1
      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Related
      ENSP00000389176.2, ENST00000436587.6
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      7182547..7248651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249812.1XP_005249869.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X1

      Conserved Domains (1) summary
      cl21608
      Location:115256
      Galactosyl_T; Galactosyltransferase
    2. XM_017012445.1XP_016867934.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    3. XM_011515453.2XP_011513755.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011513755.1

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    4. XM_011515455.2XP_011513757.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011513757.1

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    5. XM_011515456.2XP_011513758.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011513758.1

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Related
      ENSP00000223122.2, OTTHUMP00000200760, ENST00000223122.3, OTTHUMT00000324379
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    6. XM_017012444.1XP_016867933.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    7. XM_017012447.1XP_016867936.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    8. XM_017012446.1XP_016867935.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    9. XM_017012442.1XP_016867931.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    10. XM_017012443.1XP_016867932.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    11. XM_017012448.1XP_016867937.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9NS00
      UniProtKB/TrEMBL
      A0A024RA32
      Conserved Domains (1) summary
      cl21608
      Location:107248
      Galactosyl_T; Galactosyltransferase
    12. XM_017012449.1XP_016867938.1  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform X3

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      7222244..7288282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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