COLGALT1 (collagen beta(1-O)galactosyltransferase 1)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
BSVD3,ColGalT 1,GLT25D1
FUSION GENES

Other Information

Locus ID:

NCBI: 79709
MIM: 617531
HGNC: 26182
Ensembl: ENSG00000130309

Variants:

dbSNP: 79709
ClinVar: 79709
TCGA: ENSG00000130309
COSMIC: COLGALT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130309ENST00000252599Q8NBJ5
ENSG00000130309ENST00000597147M0QX72
ENSG00000130309ENST00000600474M0QYH0

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Other types of O-glycan biosynthesisKEGGko00514
Lysine degradationKEGGhsa00310
Other types of O-glycan biosynthesisKEGGhsa00514
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190750072009Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.37
204703632010The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.12
274028362016Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.7
222162692011Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.2
284284302017Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.2

Citation

Dessen P

COLGALT1 (collagen beta(1-O)galactosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62008/colgalt1