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    C1GALT1C1 C1GALT1 specific chaperone 1 [ Homo sapiens (human) ]

    Gene ID: 29071, updated on 7-Feb-2016
    Official Symbol
    C1GALT1C1provided by HGNC
    Official Full Name
    C1GALT1 specific chaperone 1provided by HGNC
    Primary source
    HGNC:HGNC:24338
    See related
    Ensembl:ENSG00000171155; HPRD:06462; MIM:300611; Vega:OTTHUMG00000022305
    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
    TNPS; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1
    Summary
    This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
    Orthologs
    See C1GALT1C1 in Epigenomics, MapViewer
    Location:
    Xq24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (120625674..120630150, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119759529..119764005, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373327 Neighboring gene malignant T-cell amplified sequence 1 Neighboring gene glutaredoxin 5 pseudogene Neighboring gene proliferation-associated 2G4 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC19947

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    polypeptide N-acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    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
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    C1GALT1-specific chaperone 1
    Names
    C1Gal-T2
    C38H2-like protein 1
    beta 1,3-galactosyltransferase 2
    core 1 beta1,3-galactosyltransferase 2
    core 1 beta3-Gal-T2
    core 1 beta3-galactosyltransferase-specific molecular chaperone

    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_016219.1 RefSeqGene

      Range
      5001..9477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001011551.2NP_001011551.1  C1GALT1-specific chaperone 1

      See identical proteins and their annotated locations for NP_001011551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AJ238398, AY358642, BC050441, BM971206
      Consensus CDS
      CCDS14602.1
      UniProtKB/Swiss-Prot
      Q96EU7
      Related
      ENSP00000304364, OTTHUMP00000023952, ENST00000304661, OTTHUMT00000058117
    2. NM_152692.4NP_689905.1  C1GALT1-specific chaperone 1

      See identical proteins and their annotated locations for NP_689905.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA578739, AJ238398, AY159319, BM971206
      Consensus CDS
      CCDS14602.1
      UniProtKB/Swiss-Prot
      Q96EU7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      120625674..120630150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      119671176..119675652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)