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FLASH GENE

Symbol

C1GALT1

contributors: mct - updated : 14-11-2018

HGNC name	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
HGNC id	24337

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_020156 3 - 6244 NP_064541 42.1 363 - 2008 18061573

EXPRESSION

Type

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 liver         Nervous brain         Respiratory lung           respiratory tract trachea     predominantly   respiratory tract larynx     moderately Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Connective bone     highly Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one fringe-like motif
	a CBRT (Cosmc binding region within T-synthase) is a unique recognition motif for C1GALT1C1 to promote its regulation and formation of active T-synthase

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to rattus C1galt1 (89.8 pc)
	homolog to murine C1galt1 (89 pc)

Homologene

FAMILY	glycosyltransferase 31 family
	beta3-Gal-T subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	single-pass type II membrane protein

basic FUNCTION	acting as a glycosyltransferase
	generating the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins
	playing a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development
	controls the formation of mucin-type O-glycans
	plays a role in the pathogenesis of ovarian cancer

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development

text	angiogenesis
	kidney development

PATHWAY

metabolism

signaling

a component

disulfide-linked homodimer

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Mg2+

protein	interacting with the C1GALT1C1 chaperone (required for galactosyltransferase activity)
	C1GALT1C1 is essential for folding and normal activity of the Golgi enzyme C1GALT1
	TGFB1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and C1GALT1C1

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 tumoral     --over   promotes breast cancer cell growth through MUC1-C signaling pathway

Susceptibility

to IgA nephropathy (IGAN)

Variant & Polymorphism other	variants of C1GALT1 associated with the genetic susceptibility to IgA nephropathy
	polymorphisms in the C1GALT1 gene were associated with genetic susceptibility to Uyghur IgAN

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas targeting C1GALT1 could be a promising approach for ovarian cancer therapy cancer reproductive breast potential of C1GALT1 as a target of novel therapeutic agent development in breast cancer

ANIMAL & CELL MODELS

C1galt1-deficient mice exhibit thrombocytopenia due to abnormal terminal differentiation of megakaryocytes