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FLASH GENE

Symbol

C1GALT1C1

contributors: mct - updated : 22-02-2010

HGNC name	C1GALT1-specific chaperone 1
HGNC id	24338

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq24      Physical location : 119.759.535 - 119.764.005
Synonym name	core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2
	core 1 beta3-galactosyltransferase-specific molecular chaperone
	C38H2-like protein 1
	core 1 beta3-Gal-T2
Synonym symbol(s)	COSMC, HSPC067, C1Gal-T2, MGC19947, c38h2-l1, C1GALT2, MST143
EC.number	2.4.1.122

DNA

TYPE	functioning gene
STRUCTURE	4.41 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

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

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	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
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

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

associating with C1GALT1

cell & other

REGULATION

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)

Susceptibility

Variant & Polymorphism	polymorphism of C1GALT1C1 gene is associated with the genetic susceptibility to IgA nephropathy

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

ANIMAL & CELL MODELS