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    COLGALT1 collagen beta(1-O)galactosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79709, updated on 3-Nov-2024

    Summary

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    Official Symbol
    COLGALT1provided by HGNC
    Official Full Name
    collagen beta(1-O)galactosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:26182
    See related
    Ensembl:ENSG00000130309 MIM:617531; AllianceGenome:HGNC:26182
    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
    BSVD3; GLT25D1; ColGalT 1
    Summary
    The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in placenta (RPKM 27.5), appendix (RPKM 22.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COLGALT1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17555649..17583157)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17690267..17717783)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17666458..17693966)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PGLS divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17621962-17622618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10350 Neighboring gene Sharpr-MPRA regulatory region 7913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17623276-17623931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17641583-17642201 Neighboring gene 6-phosphogluconolactonase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10353 Neighboring gene niban apoptosis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10355 Neighboring gene Sharpr-MPRA regulatory region 8704 Neighboring gene ribosomal protein L21 pseudogene 130 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17709342-17709923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17715726-17716630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17716631-17717535 Neighboring gene unc-13 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17797343-17798304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17798305-17799265

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation. Webster JA, et al. Biosci Rep, 2017 Jun 30. PMID 28428430, Free PMC Article
    2. Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1. Perrin-Tricaud C, et al. PLoS One, 2011. PMID 22216269, Free PMC Article
    3. Collagen glycosylation. Hennet T. Curr Opin Struct Biol, 2019 Jun. PMID 30822656
    4. Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases. Schegg B, et al. Mol Cell Biol, 2009 Feb. PMID 19075007, Free PMC Article
    5. The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein. Liefhebber JM, et al. BMC Cell Biol, 2010 May 14. PMID 20470363, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.
      Title: Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.
    2. GLT25D1 regulates HMW adiponectin secretion.
      Title: Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.
    3. Loss of GLT25D1 led to increased expression and intracellular accumulation of collagen type I, whereas loss of GLT25D2 had no effect on collagen secretion. Inactivation of the GLT25D1 gene resulted in a compensatory induction of GLT25D2 expression.
      Title: Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.
    4. introduced substitution Q471R-V472M-N473Q-P474V in the CEECAM1-C-terminal construct, which is found in most animal GLT25D1 and GLT25D2 isoforms but not in CEECAM1. This substitution was shown to partially restore collagen galactosyltransferase activity
      Title: Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.
    5. Data indicate that galactosylation of collagenous proteins by the soluble GLT25D1 occurs in the early secretory pathway
      Title: The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.
    6. Two collagen beta(1-O)galactosyltransferases corresponding to the GLT25D1 and GLT25D2 proteins were identified.
      Title: Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Brain small vessel disease 3
    MedGen: C5193053 OMIM: 618360 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22329, MGC117270

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables procollagen galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables procollagen galactosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables procollagen galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in collagen fibril organization TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    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_078932.2
    XP_005260137.1
    XP_011526599.1
    XP_011526601.1
    XP_054178144.1
    XP_054178145.1
    XP_054178146.1

    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_024656.4 → NP_078932.2  procollagen galactosyltransferase 1 precursor

      See identical proteins and their annotated locations for NP_078932.2

      Status: REVIEWED

      Source sequence(s)
      AC010618, AK074941, AK075541, BU628916
      Consensus CDS
      CCDS12363.1
      UniProtKB/Swiss-Prot
      Q8NBJ5, Q8NC64
      Related
      ENSP00000252599.3, ENST00000252599.9
      Conserved Domains (2) summary
      cd00761
      Location:56 → 185
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
      cl01298
      Location:340 → 525
      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 ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17555649..17583157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260080.5 → XP_005260137.1  procollagen galactosyltransferase 1 isoform X1

      Conserved Domains (2) summary
      cl01298
      Location:257 → 442
      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:4 → 92
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. XM_011528297.3 → XP_011526599.1  procollagen galactosyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_011526599.1

      Conserved Domains (1) summary
      cl01298
      Location:247 → 432
      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 ...

    3. XM_011528299.4 → XP_011526601.1  procollagen galactosyltransferase 1 isoform X3

      Conserved Domains (1) summary
      cl01298
      Location:61 → 246
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17690267..17717783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322169.1 → XP_054178144.1  procollagen galactosyltransferase 1 isoform X1

    2. XM_054322170.1 → XP_054178145.1  procollagen galactosyltransferase 1 isoform X2

    3. XM_054322171.1 → XP_054178146.1  procollagen galactosyltransferase 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBJ5.1 GenPept UniProtKB/Swiss-Prot:Q8NBJ5

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