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FLASH GENE

Symbol

C1GALT1C1

contributors: mct - updated : 14-11-2018

HGNC name	C1GALT1-specific chaperone 1
HGNC id	24338

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001011551 2 - 1743 NP_001011551 36.2 318 - 2008 18695044 NM_152692 3 - 1915 NP_689905 36.2 318 - 2008 18695044

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly   salivary gland       highly   stomach       highly Lymphoid/Immune thymus         Nervous brain hindbrain cerebellum     Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic mature hematopoietic

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	umbilical cord blood

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a structured N-terminal domain (Cosmc delta256), mediating T-synthase binding and chaperone function,
	has a unique ER-retention motif within its transmembrane domain (TMD), providing new insights into the molecular mechanisms by which TMDs of resident ER proteins contribute to ER localization
	a C-terminal domain necessary for oligomerization and metal binding

HOMOLOGY

interspecies	homolog to murine C1galt1c1 (93.7pc)
	homolog to rattus C1galt1c1 (93.4pc)

Homologene

FAMILY	glycosyltransferase 31 family
	Beta3-Gal-T subfamily

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	type II transmembrane protein

basic FUNCTION	playing an important role in synthesizing O-glycans in digestive organs
	required for the proper folding and hence full activity of C1GALT1
	molecular chaperone, required for the functioning of T-synthase (beta 1,3-galactosyltransferase), a glycosyltransferase essential for the correct biosynthesis of O-glycans
	promotes folding of C1GALT1
	controls the intracellula dynamics of C1GALT1 in association with core 1 synthase activity
	first ER chaperone identified to be required for folding of a glycosyltransferase
	may play a key role in the regulation of IgA1 O-glycosylation and in in IgA nephropathy
	molecular chaperone thought to be required for expression of active T-synthase, the only enzyme that galactosylates the Tn antigen (GalNAcalpha1-Ser/Thr-R) to form core 1 Galbeta1-3GalNAcalpha1-Ser/Thr (T antigen) during mucin type O-glycan biosynthesis
	plays a crucial role in blood vessel formation and is characterized as a molecular chaperone of C1GALT1 which catalyzes the synthesis of T antigen
	is a novel regulator for KDR signaling in endothelial cells and dysregulation of C1GALT1C1 expression may contribute to the pathogenesis of hemangioma
	C1GALT1 and its molecular chaperone C1GALT1C1 regulate the biosynthesis of mucin type O-glycans on glycoproteins
	is essential for the synthesis of the core 1 structure of mucin-type O-glycans

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associating with C1GALT1
	essential for folding and normal activity of the Golgi enzyme C1GALT1
	C1GALT1C1 was able to regulate VEGF-triggered phosphorylation of KDR
	TNF was shown to down-regulate the C1GALT1C1 gene as evidenced by reduced levels of the C1GALT1C1 mRNA and protein, as well as hypermethylation of the CpG islands of the C1GALT1C1 gene promoter
	TGFB1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and C1GALT1C1
	C1GALT1C1 is required for TIMD4-dependent normal efferocytosis and may contribute to the stable expression of the TIMD4 glycoprotein

cell & other

REGULATION

Other

important role of the GC-rich sequence of CpG islands in the regulation of transcription and expression ofC1GALT1C1 and C1GALT1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in Tn syndrome (autoimmune disease with blood cells carrying an incompletely glycosylated membrane glycoprotein) (OMIM: 300622) constitutional         truncated protein in human colorectal cell line and in Jurkat cells constitutional somatic mutation       abolishing function of a glycosyltransferase, disrupting O-glycan core 1 synthesis and creating a tumor-specific glycopeptidic neoepitope consisting of a monosaccharide and a specific wildtype protein sequence constitutional     --low   implicated in the IGAN pathogenesis (but minor role) constitutional     --low   in pediatric IgA nephropathy (IGAN), hypermethylation of C1GALT1C1 promoter region could be a key mechanism for the reduction of Cosmc mRNA expression in IgAN lymphocytes with associated increase in aberrantly glycosylated IgA1

Susceptibility

to IgA nephropathy to inflammatory bowel disease (IBD)

Variant & Polymorphism	polymorphism of C1GALT1C1 gene is associated with the genetic susceptibility to IgA nephropathy
	is an IBD risk factor implicated in regulating the spatial pattern of dysbiosis and sex bias in IBD

Candidate gene	expression of the disease-related Tn antigen can result from deregulation or loss of C1GALT1C1 function
Marker
Therapy target

ANIMAL & CELL MODELS