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

Summary

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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126876 (e-PCR)
- UniSTS:209756

NoName (e-PCR)
- UniSTS:235925

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

EC 2.4.1.50

NP_666323.2

EC 2.4.1.50

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)

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
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