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    C1galt1c1 C1GALT1-specific chaperone 1 [ Mus musculus (house mouse) ]

    Gene ID: 59048, updated on 9-Dec-2024

    Summary

    Official Symbol
    C1galt1c1provided by MGI
    Official Full Name
    C1GALT1-specific chaperone 1provided by MGI
    Primary source
    MGI:MGI:1913493
    See related
    Ensembl:ENSMUSG00000048970 AllianceGenome:MGI:1913493
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cosmc; C1GalT2; 1500002I11Rik
    Summary
    Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within platelet activation; platelet morphogenesis; and protein O-linked glycosylation. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to human C1GALT1C1 (C1GALT1 specific chaperone 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 14.4), large intestine adult (RPKM 13.0) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C1galt1c1 in Genome Data Viewer
    Location:
    X A3.3; X 22.91 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (37719660..37724020, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (38630783..38635143, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene 9488 Neighboring gene cullin 4B Neighboring gene STARR-seq mESC enhancer starr_47020 Neighboring gene malignant T cell amplified sequence 1 Neighboring gene STARR-seq mESC enhancer starr_47021 Neighboring gene STARR-seq mESC enhancer starr_47022 Neighboring gene predicted gene, 52440 Neighboring gene MAK16 homolog pseudogene Neighboring gene adaptor-related protein complex 3, sigma 1 subunit, pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    C1GALT1-specific chaperone 1
    Names
    C1Gal-T2
    beta1,3-galactosyltransferase 2
    core 1 beta1,3-galactosyltransferase 2
    core 1 beta3-Gal-T2
    core 1 beta3-galactosyltransferase-specific molecular chaperone
    mC1Gal-T2

    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.

    mRNA and Protein(s)

    1. NM_021550.3NP_067525.1  C1GALT1-specific chaperone 1

      See identical proteins and their annotated locations for NP_067525.1

      Status: VALIDATED

      Source sequence(s)
      AK008040, AL590633, AL845279
      Consensus CDS
      CCDS30095.1
      UniProtKB/Swiss-Prot
      Q9JMG2
      Related
      ENSMUSP00000059224.8, ENSMUST00000058265.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      37719660..37724020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)