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FLASH GENE

Symbol

PIGA

contributors: mct - updated : 25-02-2016

HGNC name	phosphatidylinositol glycan anchor biosynthesis, class A
HGNC id	8957

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCAHS2 multiple congenital anomalies-hypotonia-seizures syndrome 2 PNH hemoglobinuria, paroxysmal, nocturnal
Location	Xp22.2      Physical location : 15.337.572 - 15.353.676
Synonym name	phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
	GlcNAc-PI synthesis protein
	phosphatidylinositol N-acetylglucosaminyltransferase subunit A
	class A GlcNAc-inositol phospholipid assembly protein
Synonym symbol(s)	GPI3, PIG-A
EC.number	2.4.1.198

DNA

TYPE	functioning gene
STRUCTURE	16.08 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
text structure	no TATA, four CAAT boxes, two AP-3 sequences, a CRE sequence

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - DXS16 - OFD1 OFD1 - DXS414 - DXS1112E - DXS9 - GLRA2 /DXS987 - PIGA /DXS207 - DXS1053 - DXS197 - BRS3 /DXS43 - S100G - DXS1416 - DXS1317 - DXS1195 - DXS418 - DXS257 - PHKA2 /DXS999 - DXS443 - DXS1229 - cen
Authors	Alitalo (95)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002641 6 - 3644 NP_002632 54.1 484 - Miyata (1993) also called variant 1/isoform 1 NM_020473 6 - 2867 NP_065206 - 250 - Miyata (1993) also called variant 3/isoform 3

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythrocyte Blood/Hematopoietic granulocyte Lymhoid/Immune lymphocyte

cell lineage	hematopoietic stem cell
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a glycosyltransferase motif
	a C terminal transmembrane segment

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Piga (87.8pc)
	homolog to rattus Piga (88.6pc)

Homologene

FAMILY

glycosyltransferase 1 family

CATEGORY

enzyme

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

basic FUNCTION	putatively involved in apoptosis regulation
	anchoring proteins to the cell surface
	required for the synthesis of N acetyl-glucosaminyl-phosphatidyl inositol,the first step in the biosynthesis pathway of GPI

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming a complex with PIGH in the endoplasmic membrane reticulum with GPI-GlcNac transferase activity

INTERACTION

DNA

RNA

small molecule

protein	interacting with PIGY
	associating with PIGC, PIGH, PIGP, PIGQ and DPM2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PNH , MCAHS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS