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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
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)
    Physical map
    LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B FLJ20514 Xp22.31 hypothetical protein FLJ20514 LOC286480 Xp22.31 similar to ubiquitin-conjugating enzyme UbcM2 GLRA2 Xp22.13 glycine receptor, alpha 2 LOC392428 X similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 FLJ34064 Xp22.31 hypothetical protein FLJ34064 MGC26706 Xp22.31 hypothetical protein MGC26706 ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3644 54.1 484 - Miyata (1993)
    also called variant 1/isoform 1
    6 - 2867 - 250 - Miyata (1993)
    also called variant 3/isoform 3
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte
    Blood/Hematopoieticgranulocyte
    Lymhoid/Immunelymphocyte
    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