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    Colgalt1 collagen beta(1-O)galactosyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 234407, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Colgalt1provided by MGI
    Official Full Name
    collagen beta(1-O)galactosyltransferase 1provided by MGI
    Primary source
    MGI:MGI:1924348
    See related
    Ensembl:ENSMUSG00000034807 AllianceGenome:MGI:1924348
    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
    Glt25d1; 2810024B22Rik
    Summary
    Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in positive regulation of collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. Is expressed in axial skeleton and embryo. Human ortholog(s) of this gene implicated in brain small vessel disease 3. Orthologous to human COLGALT1 (collagen beta(1-O)galactosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 112.6), limb E14.5 (RPKM 81.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Colgalt1 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (72063631..72077555)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71610042..71624911)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene 6-phosphogluconolactonase Neighboring gene niban apoptosis regulator 3 Neighboring gene STARR-positive B cell enhancer ABC_E9025 Neighboring gene STARR-positive B cell enhancer ABC_E6654 Neighboring gene unc-13 homolog A Neighboring gene predicted gene, 39195 Neighboring gene microRNA 6769b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Role of Glycosyltransferase 25 Domain 1 in Type I Collagen Glycosylation and Molecular Phenotypes. Terajima M, et al. Biochemistry, 2019 Dec 17. PMID 31726007, Free PMC Article
    2. Downregulation of Glt25d1 aggravates carbon tetrachloride‑induced acute hepatic injury through activation of the TGF‑β1/Smad2 signaling pathway. Ye X, et al. Mol Med Rep, 2018 Oct. PMID 30132521, Free PMC Article
    3. Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects. Geister KA, et al. Dis Model Mech, 2019 Jun 17. PMID 31101663, Free PMC Article
    4. Down-regulation of GLT25D1 inhibited collagen secretion and involved in liver fibrogenesis. He L, et al. Gene, 2020 Mar 1. PMID 31759980
    5. Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice. Geister KA, et al. G3 (Bethesda), 2018 Feb 2. PMID 29208648, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GLT25D1 catalyzes galactosylation of Hyl throughout the type I collagen molecule and that this modification may regulate maturation of collagen cross-linking, fibrillogenesis, and mineralization
      Title: Role of Glycosyltransferase 25 Domain 1 in Type I Collagen Glycosylation and Molecular Phenotypes.
    2. Results demonstrate that Glt25d1 knockout results in embryonic lethality and down-regulation of Glt25d1 may inhibit collagen secretion during liver fibrogenesis.
      Title: Down-regulation of GLT25D1 inhibited collagen secretion and involved in liver fibrogenesis.
    3. Colgalt1 mutant could serve as a model of a human connective tissue disorder and/or congenital muscular dystrophy or myopathy.
      Title: Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects.
    4. The downregulation of Glt25d1 deteriorated CCl4induced liver injury in mice, which may involve triggering inflammatory responses, apoptosis and TGFbeta1/Smad2 signaling pathway activation.
      Title: Downregulation of Glt25d1 aggravates carbon tetrachloride‑induced acute hepatic injury through activation of the TGF‑β1/Smad2 signaling pathway.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38524

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables procollagen galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables procollagen galactosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables procollagen galactosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of collagen fibril organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    procollagen galactosyltransferase 1
    Names
    glycosyltransferase 25 domain containing 1
    glycosyltransferase 25 family member 1
    hydroxylysine galactosyltransferase 1
    NP_001351372.1
    NP_666323.2

    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.

    mRNA and Protein(s)

    1. NM_001364443.1 → NP_001351372.1  procollagen galactosyltransferase 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AK029433, BM944342
      Related
      ENSMUST00000212216.2
      Conserved Domains (2) summary
      cl01298
      Location:335 → 451
      Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
      cl11394
      Location:56 → 170
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. NM_146211.3 → NP_666323.2  procollagen galactosyltransferase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_666323.2

      Status: VALIDATED

      Source sequence(s)
      AK036165, BC056951, BE692044
      Consensus CDS
      CCDS22401.1
      UniProtKB/Swiss-Prot
      Q3V3R5, Q6PGL1, Q8K297
      Related
      ENSMUSP00000047923.9, ENSMUST00000047903.10
      Conserved Domains (2) summary
      cl01298
      Location:335 → 520
      Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
      cl11394
      Location:56 → 170
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      72063631..72077555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004934818.1 RNA Sequence

    2. XR_004934817.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K297.2 GenPept UniProtKB/Swiss-Prot:Q8K297

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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