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

2014-11-01  

Identity

HGNC
COLGALT1
LOCATION
19p13.11
LOCUSID
79709
ALIAS
BSVD3,ColGalT 1,GLT25D1
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
339847702021Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.3
339847702021Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.3
284284302017Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.5
284284302017Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.5
274028362016Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.26
274028362016Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.26
222162692011Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.7
222162692011Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.7
204703632010The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.18
204703632010The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.18
190750072009Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.60
190750072009Core 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/case-report-explorer/deep-insight-explorer/js/lib/zoomerang.js