C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1)

2012-12-01  

Identity

HGNC
C1GALT1
LOCATION
7p22.1
LOCUSID
56913
ALIAS
C1GALT,T-synthase
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56913
MIM: 610555
HGNC: 24337
Ensembl: ENSG00000106392

Variants:

dbSNP: 56913
ClinVar: 56913
TCGA: ENSG00000106392
COSMIC: C1GALT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106392ENST00000223122Q9NS00
ENSG00000106392ENST00000223122A0A024RA32
ENSG00000106392ENST00000402468Q9NS00
ENSG00000106392ENST00000429911C9K0C8
ENSG00000106392ENST00000436587Q9NS00
ENSG00000106392ENST00000436587A0A024RA32

Expression (GTEx)

0
5
10
15
20
25
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
Mucin type O-glycan biosynthesisKEGGko00512
Mucin type O-glycan biosynthesisKEGGhsa00512
Metabolic pathwaysKEGGhsa01100
O-glycan biosynthesis, mucin type coreKEGGhsa_M00056
O-glycan biosynthesis, mucin type coreKEGGM00056
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709

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
162519472005Protein glycosylation: chaperone mutation in Tn syndrome.106
195562442009Association of cell surface mucins with galectin-3 contributes to the ocular surface epithelial barrier.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
243986802014Cytokines alter IgA1 O-glycosylation by dysregulating C1GalT1 and ST6GalNAc-II enzymes.44
199232182010The endoplasmic reticulum chaperone Cosmc directly promotes in vitro folding of T-synthase.30
281871322017GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.28
238326672013C1GALT1 enhances proliferation of hepatocellular carcinoma cells via modulating MET glycosylation and dimerization.22
282098082017Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.22
172283612007Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.21
172283612007Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.21

Citation

Dessen P

C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53105/c1galt1