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

2014-11-01 Affiliation

Identity

HGNC

COLGALT1

LOCATION

19p13.11

LOCUSID

79709

ALIAS

BSVD3,ColGalT 1,GLT25D1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130309	ENST00000252599	Q8NBJ5
ENSG00000130309	ENST00000597147	M0QX72
ENSG00000130309	ENST00000600474	M0QYH0

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Other types of O-glycan biosynthesis	KEGG	ko00514
Lysine degradation	KEGG	hsa00310
Other types of O-glycan biosynthesis	KEGG	hsa00514
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33984770	2021	Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.	3
33984770	2021	Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.	3
28428430	2017	Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.	5
28428430	2017	Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.	5
27402836	2016	Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.	26
27402836	2016	Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.	26
22216269	2011	Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.	7
22216269	2011	Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.	7
20470363	2010	The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.	18
20470363	2010	The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.	18
19075007	2009	Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.	60
19075007	2009	Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.	60

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/gene-fusions/favicon/img/logo-atlas-4.svg