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
162519472005Protein glycosylation: chaperone mutation in Tn syndrome.106
183398422008Human tumor antigens Tn and sialyl Tn arise from mutations in Cosmc.93
186950442008Regulation of protein O-glycosylation by the endoplasmic reticulum-localized molecular chaperone Cosmc.51
260213142015COSMC knockdown mediated aberrant O-glycosylation promotes oncogenic properties in pancreatic cancer.34
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
172283612007Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.21
185379742008New mutations in C1GALT1C1 in individuals with Tn positive phenotype.19
123619562002Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan.16
224161362012Tight complex formation between Cosmc chaperone and its specific client non-native T-synthase leads to enzyme activity and client-driven dissociation.15

Citation

Dessen P

C1GALT1C1 (C1GALT1 specific chaperone 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50225/c1galt1c1