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FLASH GENE

Symbol

PIGT

contributors: mct - updated : 23-11-2015

HGNC name	phosphatidylinositol glycan anchor biosynthesis, class T
HGNC id	14938

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCAHS3 multiple congenital anomalies-hypotonia-seizures syndrome 3 PNH2 paroxysmal nocturnal hemoglobinuria 2
Location	20q13.12      Physical location : 44.044.706 - 44.054.884
Synonym name	phosphatidyl inositol glycan class T
	CGI-06 protein
	GPI transamidase subunit
	neurotrophin-regulated neuronal development-associated protein
	GPI transamidase component PIG-T
	neuronal development-associated protein
Synonym symbol(s)	CGI-06, MGC8909, NDAP, FLJ41596

DNA

TYPE	functioning gene
STRUCTURE	10.18 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001184728 11 - 2077 NP_001171657 - 522 - 2005 15713669 NM_015937 12 - 2245 NP_057021 - 578 - 2005 15713669 NM_001184730 10 - 1939 NP_001171659 - 476 - 2005 15713669 NM_001184729 11 - 2044 NP_001171658 - 511 - 2005 15713669

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 Nervous brain forebrain cerebral cortex     Homo sapiens   brain limbic system hippocampus dentate gyrus   Homo sapiens Skin/Tegument skin

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a GPI transamidase component domain

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to S.cerevvisiae gpi16p

Homologene

FAMILY

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	it is ER-localized because of information in its transmembrane span

basic FUNCTION	stabilizing the fonction of GAA1 and PIGK
	is essential for attachment of the preassembled GPI anchor to proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	complexing with PIGK, PIGS, GAA1
	expression of NDAP might be a checkpoint for apoptosis during neuronal development
	PIGS and PIGT are components of the GPI transamidase complex and are essential for the formation of the carbonyl intermediates necessary when the transamidase complex transfers the GPI group to the protein

INTERACTION

DNA

RNA

small molecule

protein	different regulations of PIGT expression by neurotrophins indicate that its expression might be a checkpoint for apoptosis during neuronal development
	PIGT, PIGU, and GPAA1 may form a core complex associated by PIGS, and these four subunits may stabilize PIGK, triggering GPI anchoring reactions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCAHS3 , PNH2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS