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FLASH GENE

Symbol

POGLUT1

contributors: mct - updated : 03-06-2021

HGNC name	protein O-glucosyltransferase 1
HGNC id	22954

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Skin/Tegument skin         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum granulosum   Homo sapiens Epithelial barrier lining epidermis stratum spinosum   Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal (AAs 1–180)
	a CAP10 domain with two DXD-like motifs
	a WXGG motif which is essential for the enzymatic activity
	a KDEL-like ER retention signal at the C terminus , and a C-terminal (AAs 181–392) domain that together form a large binding pocket for the substrate UDP-glucose at the domain interfacea signal peptide

HOMOLOGY

interspecies

homolog to drosophila Rumi

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	colocalization of the WT POGLUT1 with endoplasmic reticulum (ER)

basic FUNCTION	regulates the proliferation of U937 cell through CDKN1B-RB signaling pathway, which may be important for the pathogenesis of leukemia
	enzymatic activity of POGLUT1 is key to its regulatory role in the Notch pathway
	is likely to have additional important targets during mammalian development
	soluble, endoplasmic reticulum-retained protein that functions as a protein O-glucosyltransferase
	catalyze transfer of glucose from UDP-glucose to an EGF repeat from human factor VII
	primarily regulates Notch signaling through its enzymatic activity, and regulation of Notch signaling by PGLUT1 depends potentially on the addition of O-glucose or O-Xyl to Notch pathway components by POGLUT1
	enhanced Notch activation
	having protein O-xylosyltransferase activity
	POGLUT1 and POFUT1 are essential regulators of Notch activity
	important for the correct differentiation of the epidermal layer and might emphasize an important role for POGLUT1 in the development of the epidermis
	is a protein-O-glucosyltransferase that transfers glucose and xylose to the EGF-like domains of Notch and other signaling receptors
	Poglut1 contributes to myogenesis by regulating Notch signaling and defining, directly or indirectly, the proportion of cells that commit differentiation
	POGLUT1, POGLUT2, POGLUT3, use uridine diphosphate (UDP)-Glc as a substrate to modify EGF repeats and reside in the endoplasmic reticulum via C-terminal KDEL-like signals, and in addition to O-glucosylation activity, POGLUTs can also perform protein O-xylosylation function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DDD3 , LGMD2Z

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   might be an early event in the pathogenesis ofin T-acute lymphoblastic leukemia and acute myelogenous leukemia tumoral     --over   in primary acute myelogenous leukaemia, T-acute lymphoblastic leukaemia samples and other leukaemia cell lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Rumi(-/-) mouse embryos die before embryonic day 9.5 with posterior axis truncation and severe defects in neural tube development, somitogenesis, cardiogenesis and vascular remodeling