C1GALT1C1 (C1GALT1 specific chaperone 1)

2008-07-01  

Identity

HGNC
C1GALT1C1
LOCATION
Xq24
LOCUSID
29071
ALIAS
C1GALT2,C38H2-L1,COSMC,HSPC067,MST143,TNPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29071
MIM: 300611
HGNC: 24338
Ensembl: ENSG00000171155

Variants:

dbSNP: 29071
ClinVar: 29071
TCGA: ENSG00000171155
COSMIC: C1GALT1C1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171155ENST00000304661Q96EU7
ENSG00000171155ENST00000371313Q96EU7

Expression (GTEx)

0
10
20
30
40
50
60
70
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
346442632021Cosmc transfection decreases malignant behavior of Tn(+) cells and enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via alteration of O-glycan structure.4
346442632021Cosmc transfection decreases malignant behavior of Tn(+) cells and enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via alteration of O-glycan structure.4
314712272020C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular carcinoma.2
316332992020Cosmc overexpression enhances malignancies in human colon cancer.8
321867522020MicroRNA‑196b targets COSMC in pediatric IgA nephropathy.3
314712272020C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular carcinoma.2
316332992020Cosmc overexpression enhances malignancies in human colon cancer.8
321867522020MicroRNA‑196b targets COSMC in pediatric IgA nephropathy.3
301150162018Differential expression of Cosmc, T-synthase and mucins in Tn-positive colorectal cancers.30
301150162018Differential expression of Cosmc, T-synthase and mucins in Tn-positive colorectal cancers.30
280353532017TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc.6
281871322017GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.69
286659622017Biochemical characterization of functional domains of the chaperone Cosmc.11
287089802017CD3/CD28 dynabeads induce expression of tn antigen in human t cells accompanied by hypermethylation of the cosmc promoter.3
280353532017TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc.6

Citation

Dessen P

C1GALT1C1 (C1GALT1 specific chaperone 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50225