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FLASH GENE

Symbol

POFUT1

contributors: mct - updated : 15-02-2012

HGNC name	protein O-fucosyltransferase 1
HGNC id	14988

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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 Cardiovascular heart         Digestive liver         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	N terminal transmembrane sequence typical of a type 2 membrane orientation
	a KDEL-like sequence at its C terminus, retaining OFUT1 in the ER

HOMOLOGY

interspecies	homolog to murine O-fuct-1
	ortholog to Drosophila Pofut1

Homologene

FAMILY

glycosyltransferase O-Fuc family

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	soluble protein located in the lumen of endoplasmic reticulum (ER)

basic FUNCTION	catalyzing the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains
	playing an essential role in Notch signaling
	specifically required for cell surface localization of Notch (required for normal trafficking of Notch out of the ER)
	facilitating Notch folding independently of its fucosyltransferase activity (chaperone activity)
	mammalian Notch receptors require POFUT1 for the generation of optimally functional NOTCH receptors
	acts as a chaperone and is required for NOTCH trafficking
	involved in the presomitic mesoderm (PSM) Notch signalling that is particularly sensitive to POFUT1 levels
	key role for the O-fucose glycans generated by PFUT1 in NOTCH regulation of hematopoietic homeostasis through modulation of NOTCH-ligand interactions
	plays a significant and conserved role in melanin synthesis and transport

CELLULAR PROCESS	nucleotide, transcription, regulation
	protein, translation regulation

PHYSIOLOGICAL PROCESS

development

text	embryonic development

PATHWAY

metabolism

carbohydrate

signaling

	component of the canonical Notch signaling pathway

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	manganese

protein

Notch (EGF domain)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DDD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mouse embryos lacking Pofut1 function die with a phenotype indicative of global inactivation of Notch signalling