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FLASH GENE

Symbol

PIGP

contributors: mct - updated : 29-04-2016

HGNC name	phosphatidylinositol glycan, class P
HGNC id	3046

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         Reproductive male system testis

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

physiological period

fetal

Text

tongue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Dcrc

Homologene

FAMILY

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	regulates convergent extension (CE) movements through the non-canonical Wnt pathway
	regulates CE in vertebrate embryos by anchoring different Wnt receptors at the cell surface and maintaining Dishevelled stability

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the GPI-GlcNAc transferase

INTERACTION

DNA

RNA

small molecule

protein	functionally interacted with Knypek/GLI4 and was required for its localization at the cell surface
	KMT2B is required for the expression of PIGP, the enzyme catalyzing the first step of glycosylphosphatidylinositol (GPI) anchor synthesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE55

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   may lead to or represent impaired glycosylphosphatidylinositol- N-acetylglucosaminyltransferase mediated posttranslational modifications and subsequent anchoring of proteins to the plasma membrane

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

impaired Pigp expression in Kmt2b(-/-) macrophages abolished GPI anchor-dependent loading of proteins on the cell membrane