Collagen beta(1-o)galactosyltransferase 1

COLGALT1
Identifiers
Aliases	COLGALT1, GLT25D1, collagen beta(1-O)galactosyltransferase 1, ColGalT 1, BSVD3
External IDs	OMIM: 617531; MGI: 1924348; HomoloGene: 23465; GeneCards: COLGALT1; OMA:COLGALT1 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	17,583,162 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	72,077,555 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; granulocyte; ; monocyte; ; spleen; ; right coronary artery; ; upper lobe of left lung; ; canal of the cervix; ; left coronary artery; ; smooth muscle tissue; ; apex of heart;
	Top expressed in
	calvaria; ; dermis; ; stroma of bone marrow; ; efferent ductule; ; human fetus; ; vas deferens; ; body of femur; ; Gonadal ridge; ; umbilical cord; ; carotid body;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; glycosyltransferase activity; procollagen galactosyltransferase activity;
Cellular component	endoplasmic reticulum lumen; membrane; endoplasmic reticulum;
Biological process	positive regulation of collagen fibril organization;
	Sources:Amigo / QuickGO
Orthologs
	79709
	234407
	ENSG00000130309
	ENSMUSG00000034807
	Q8NBJ5
	Q8K297
	NM_024656
	NM_146211; NM_001364443
	NP_078932
	NP_666323; NP_001351372
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen beta(1-O)galactosyltransferase 1 is a protein that in humans is encoded by the COLGALT1 gene. ^[5]

Function

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130309 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034807 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Collagen beta(1-O)galactosyltransferase 1". Retrieved 2017-05-16.

Schegg B, Hülsmeier AJ, Rutschmann C, Maag C, Hennet T (2009). "Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases". Mol. Cell. Biol. 29 (4): 943–52. doi:10.1128/MCB.02085-07. PMC 2643808. PMID 19075007.
Liefhebber JM, Punt S, Spaan WJ, van Leeuwen HC (2010). "The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein". BMC Cell Biol. 11: 33. doi:10.1186/1471-2121-11-33. PMC 2877668. PMID 20470363.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130309 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034807 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Collagen beta(1-O)galactosyltransferase 1". Retrieved 2017-05-16.

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Function

References

Further reading