Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PIGA Gene

protein-coding   GIFtS: 65
GCID: GC0XM015337

Phosphatidylinositol Glycan Anchor Biosynthesis, Class A

(Previous names: phosphatidylinositol glycan, class A (paroxysmal nocturnal...)
  See PIGA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class A1 2     Phosphatidylinositol N-Acetylglucosaminyltransferase1
GlcNAc-PI Synthesis Protein2 3     GPI32
PIG-A2 3     Class A GlcNAc-Inositol Phospholipid Assembly Protein2
EC 2.4.1.1983 8     GPI Anchor Biosynthesis2
MCAHS22 5     Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A2
Paroxysmal Nocturnal Hemoglobinuria1     Phosphatidylinositol-Glycan Biosynthesis, Class A Protein2
Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria)1     Phosphatidylinositol-Glycan Biosynthesis Class A Protein3

External Ids:    HGNC: 89571   Entrez Gene: 52772   Ensembl: ENSG000001651957   OMIM: 3117705   UniProtKB: P372873   

Export aliases for PIGA gene to outside databases

Previous GC identifers: GC0XM014782 GC0XM014163 GC0XM014539 GC0XM014699 GC0XM015097 GC0XM015247 GC0XM013097


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for PIGA Gene:
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the
first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood
cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired
hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been
characterized. A related pseudogene is located on chromosome 12. (provided by RefSeq, Jun 2010)

GeneCards Summary for PIGA Gene:
PIGA (phosphatidylinositol glycan anchor biosynthesis, class A) is a protein-coding gene. Diseases associated with PIGA include ferro-cerebro-cutaneous syndrome, and hemoglobinuria. GO annotations related to this gene include UDP-glycosyltransferase activity and phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
Function: Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in
GPI-anchor biosynthesis

Gene Wiki entry for PIGA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGA gene promoter:
         ATF-2   CUTL1   Evi-1   Meis-1b   C/EBPalpha   CRE-BP1   Ik-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGA promoter sequence
   Search Chromatin IP Primers for PIGA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.1

PIGA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIGA gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM015337:  view genomic region     (about GC identifiers)

Start:
15,337,573 bp from pter      End:
15,353,676 bp from pter
Size:
16,104 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 (See protein sequence)
Recommended Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A  
Size: 484 amino acids; 54127 Da
Subunit: Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts
directly with PIGY
Secondary accessions: B4E0V2 Q16025 Q16250
Alternative splicing: 3 isoforms:  P37287-1   P37287-2   P37287-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGA: NX_P37287

Explore proteomics data for PIGA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PIGA (P37287)
     TVFTDHSL  VGGIPEVLP 


    See PIGA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002632.1  NP_065206.3  

    ENSEMBL proteins: 
     ENSP00000369820   ENSP00000442653   ENSP00000416102  
    Reactome Protein details: P37287

    PIGA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PIGA
    GenScript Custom Purified and Recombinant Proteins Services for PIGA
    Novus Biologicals PIGA Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIGA

     
    Search eBioscience for Proteins for PIGA 

     
    antibodies-online proteins for PIGA (4 products) 

     
    antibodies-online peptides for PIGA

    PIGA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PIGA
    Novus Biologicals PIGA Antibodies
    Abcam antibodies for PIGA
    Cloud-Clone Corp. Antibodies for PIGA
    Search ThermoFisher Antibodies for PIGA
    antibodies-online antibodies for PIGA (33 products) 

    PIGA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PIGA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PIGA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PIGA
    Cloud-Clone Corp. CLIAs for PIGA
    Search eBioscience for ELISAs for PIGA 
    antibodies-online kits for PIGA (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    PIG: Phosphatidylinositol glycan anchor biosynthesis
    GLT1: Glycosyltransferase group 1 domain containing

    2 InterPro protein domains:
     IPR013234 PIGA_GPI_anchor_biosynthesis
     IPR001296 Glyco_trans_1

    Graphical View of Domain Structure for InterPro Entry P37287

    ProtoNet protein and cluster: P37287

    1 Blocks protein domain: IPB001296 Glycosyl transferase

    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
    Similarity: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily


    Find genes that share domains with PIGA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIGA_HUMAN, P37287
    Function: Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in
    GPI-anchor biosynthesis
    Catalytic activity: UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP +
    6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol

         Genatlas biochemistry entry for PIGA:
    glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosis regulation

         Enzyme Number (IUBMB): EC 2.4.1.1981 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16162815
    GO:0008194UDP-glycosyltransferase activity TAS--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0017176phosphatidylinositol N-acetylglucosaminyltransferase activity TAS16162815
         
    Find genes that share ontologies with PIGA           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Piga):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  integument  mortality/aging  nervous system 
     reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with PIGA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PIGA: Pigatm1.1Tak Pigatm2Tak

       genOway: Develop your customized and physiologically relevant rodent model for PIGA

    miRNA
    Products:
        
    miRTarBase miRNAs that target PIGA:
    hsa-mir-326 (MIRT043655), hsa-mir-26b-5p (MIRT028798)

    Block miRNA regulation of human, mouse, rat PIGA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIGA (see all 66):
    hsa-miR-361-5p hsa-miR-520e hsa-miR-30d hsa-miR-519a hsa-miR-1273d hsa-miR-30a hsa-miR-3170 hsa-miR-510
    SwitchGear 3'UTR luciferase reporter plasmidPIGA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PIGA
    Predesigned siRNA for gene silencing in human, mouse, rat PIGA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PIGA

    Clone
    Products:
         
    OriGene clones in human, mouse for PIGA (see all 13)
    OriGene ORF clones in mouse, rat for PIGA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PIGA (NM_002641)
    Sino Biological Human cDNA Clone for PIGA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PIGA
    Browse ESI BIO Cell Lines and PureStem Progenitors for PIGA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PIGA_HUMAN, P37287: Endoplasmic reticulum membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    mitochondrion2
    cytosol1
    endosome1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000506glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA16162815
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PIGA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for PIGA About    
    See pathways by source

    SuperPathContained pathways About
    1Post-translational modification- synthesis of GPI-anchored proteins
    Post-translational modification- synthesis of GPI-anchored proteins0.76
    Synthesis of glycosylphosphatidylinositol (GPI)0.00
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.76
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with PIGA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PIGA
        Synthesis of glycosylphosphatidylinositol (GPI)


    2 Kegg Pathways  (Kegg details for PIGA):
        Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIGA
    Interactions:

        GeneGlobe Interaction Network for PIGA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for PIGA (P372873 ENSP000003698204) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGQQ9BRB33, ENSP000000262184I2D: score=3 STRING: ENSP00000026218
    PYURFQ96I233, ENSP000002739684I2D: score=1 STRING: ENSP00000273968
    PIGHQ144423, ENSP000002164524I2D: score=3 STRING: ENSP00000216452
    DPM2O947773, ENSP000003221814I2D: score=2 STRING: ENSP00000322181
    PIGPP570543, ENSP000004200374I2D: score=1 STRING: ENSP00000420037
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process TAS16162815
    GO:0009058biosynthetic process ----
    GO:0009893positive regulation of metabolic process TAS16162815
    GO:0016254preassembly of GPI anchor in ER membrane TAS--

    Find genes that share ontologies with PIGA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIGA

    Selected HMDB Compounds for PIGA (see all 901)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--

    7 Novoseek inferred chemical compound relationships for PIGA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aerolysin 78.8 3 15687243 (2), 11212264 (1)
    n-acetylglucosamine 56 3 8806613 (1), 8647522 (1), 18522757 (1)
    udp-n-acetylglucosamine 52.8 2 8806613 (1), 18522757 (1)
    alemtuzumab 46.9 3 10520035 (1)
    phosphatidylinositol 39.7 3 8806613 (1), 8900170 (1), 18522757 (1)
    methylcellulose 21.6 1 15687243 (1)
    cyclophosphamide 0 1 12614228 (1)



    Find genes that share compounds with PIGA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PIGA gene (3 alternative transcripts): 
    NM_002641.3  NM_020473.3  NM_020472.1  

    Unigene Cluster for PIGA:

    Phosphatidylinositol glycan anchor biosynthesis, class A
    Hs.137154  [show with all ESTs]
    Unigene Representative Sequence: NM_002641
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333590(uc010nev.3 uc004cwr.3 uc004cwq.3) ENST00000482148
    ENST00000475746 ENST00000463173 ENST00000474662 ENST00000542278(uc010neu.3 uc011miq.2)
    ENST00000428964(uc004cws.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PIGA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIGA (see all 66):
    hsa-miR-361-5p hsa-miR-520e hsa-miR-30d hsa-miR-519a hsa-miR-1273d hsa-miR-30a hsa-miR-3170 hsa-miR-510
    SwitchGear 3'UTR luciferase reporter plasmidPIGA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PIGA
    Predesigned siRNA for gene silencing in human, mouse, rat PIGA
    Clone
    Products:
         
    OriGene clones in human, mouse for PIGA (see all 13)
    OriGene ORF clones in mouse, rat for PIGA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PIGA (NM_002641)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PIGA
    OriGene qSTAR qPCR primer pairs in human, mouse for PIGA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGA
      QuantiTect SYBR Green Assays in human, mouse, rat PIGA
      QuantiFast Probe-based Assays in human, mouse, rat PIGA

    Additional mRNA sequence: 

    AK098047.1 AK290497.1 AK303538.1 AK315063.1 BC038236.1 D11466.1 NR_033835.1 NR_033836.1 
    S61523.1 S74936.1 

    6 DOTS entries:

    DT.95366694  DT.213216  DT.99982419  DT.102823086  DT.121309992  DT.92422332 

    Selected AceView cDNA sequences (see all 76):

    CF994958 NM_020473 AI417807 AU098475 NM_020472 AU136655 BX113864 CB989816 
    NM_002641 D11466 CF138539 BM725982 CB157876 BC038236 BQ026278 BX498283 
    BG539972 N44601 AK098047 T17371 AU127618 CB243615 BM992664 CB989512 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGA (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:        -     -     -           -                                 
    SP2:                    -           -                                 
    SP3:              -     -           -                                 
    SP4:              -     -     -     -                                 
    SP5:                                -                                 


    ECgene alternative splicing isoforms for PIGA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    PIGA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAAAAATA
    PIGA Expression
    About this image


    PIGA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
    PIGA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.137154
        Custom PCR Arrays for PIGA
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PIGA
    OriGene qSTAR qPCR primer pairs in human, mouse for PIGA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGA
    QuantiTect SYBR Green Assays in human, mouse, rat PIGA
    QuantiFast Probe-based Assays in human, mouse, rat PIGA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGA gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Piga1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 87.81(n)1
    87.81(a)1
      X (76.49 cM)5
    187001  NM_011081.21  NP_035211.21 
     1644197935 
    chicken
    (Gallus gallus)
    Aves PIGA1 phosphatidylinositol glycan anchor biosynthesis, class more 78.68(n)
    89.41(a)
      418624  NM_001030808.1  NP_001025979.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGA6
    phosphatidylinositol glycan anchor biosynthesis, c...
    81(a)
    1 ↔ 1
    6(53507985-53523154)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165732 Xenopus laevis transcribed sequence with strong similarity more 77.67(n)    BU913078.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565892 similar to phosphatidylinositol glycan, class A (paroxysmal more 76.91(n)   393921  BC049334.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64011 , 3 phosphatidylinositol
    N-acetylglucosaminyltransferase3
    CG64011
    64(a)3
    56.17(n)1
    56.01(a)1
      370201  NM_137413.11  NP_611257.11 
    worm
    (Caenorhabditis elegans)
    Secernentea D2085.63
    piga-11
    phosphatidylinositol biosynthetic
    protein3
    piga-11
    52(a)3
    56.6(n)1
    54.33(a)1
      II(8659798-8661511)3
    1743861  NM_063439.61  NP_495840.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SPT14(YPL175W)4
    SPT141
    UDP-GlcNAc-binding and catalytic subunit of the enzyme more4
    SPT141
    53.38(n)1
    46.78(a)1
      16(218630-220088)4
    8559281, 4  NP_015150.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SETH21 SETH2 57.29(n)
    55.05(a)
      823646  NM_114379.3  NP_566874.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.43932 Transcribed sequence with moderate similarity to protein more 75.39(n)    AV913234.1 


    ENSEMBL Gene Tree for PIGA (if available)
    TreeFam Gene Tree for PIGA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PIGA gene

    Find genes that share paralogs with PIGA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PIGA
    PGOHUM00000239904


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PIGA (see all 277)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs344222251,2,,4
    C,FParoxysmal nocturnal hemoglobinuria 1 (PNH1)4 --15264955(+) AACCCG/AAGAGA 5 /R /W mis1 int13Minor allele frequency- A:0.03NA 4588
    VAR_0154364
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154362 D H mis40--------
    VAR_0055324
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0055322 N D mis40--------
    VAR_0154374
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154372 G A mis40--------
    VAR_0154414
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154412 G R mis40--------
    VAR_0154384
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154382 G D mis40--------
    VAR_0055314
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0055312 S F mis40--------
    VAR_0154394
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154392 G V mis40--------
    VAR_0154404
    Paroxysmal nocturnal hemoglobinuria 1 (PNH1)4--see VAR_0154402 H R mis40--------
    rs1994222321,2
    Cpathogenic115264716(-) ATGTAA/CAACCA 5 * Y stg1 int10--------

    HapMap Linkage Disequilibrium report for PIGA (15337573 - 15353676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PIGA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517938CNV Gain19592680
    nsv522729CNV Gain19592680
    nsv528343CNV Gain19592680

    Human Gene Mutation Database (HGMD): PIGA
    Locus Specific Mutation Databases (LSDB): PIGA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIGA
    DNA2.0 Custom Variant and Variant Library Synthesis for PIGA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 311770   
    OMIM disorders: 300818  300868  
    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
  • Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]: A disorder characterized by hemolytic anemia
    with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown
    with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]: An X-linked recessive
    developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable
    congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die
    in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for PIGA:    
    About MalaCards
    ferro-cerebro-cutaneous syndrome    hemoglobinuria    paroxysmal nocturnal hemoglobinuria, somatic    multiple congenital anomalies-hypotonia-seizures syndrome 2
    paroxysmal nocturnal hemoglobinuria    glycosylphosphatidylinositol deficiency    hepatic vein thrombosis    plasma cell neoplasm
    retinal vascular occlusion    iga glomerulonephritis    epileptic encephalopathy, early infantile, 5    aplastic anemia

    8 diseases from the University of Copenhagen DISEASES database for PIGA:
    Anemia     Bone marrow disease     Hepatic vein thrombosis     Proteinuria
    Autoimmune hemolytic anemia     Thrombocytopenia     Leukemia     IgA glomerulonephritis

    Find genes that share disorders with PIGA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PIGA gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal hemoglobinuria nocturnal 98.2 105 8541557 (3), 10389589 (2), 9129055 (2), 16923549 (2) (see all 87)
    hemolysis intravascular 92.2 2 16940417 (1), 11372757 (1)
    anemia hemolytic acquired 91.1 3 19074066 (1), 8541557 (1), 11301179 (1)
    somatic mutations 90.9 109 10087994 (3), 8500164 (3), 7655005 (3), 7986731 (2) (see all 86)
    anemia aplastic 86.6 18 10233427 (2), 16467865 (2), 8619404 (1), 11750098 (1) (see all 15)
    hemoglobinuria 84.2 1 11372733 (1)
    hemolysis 72.9 3 19569576 (1), 12627846 (1), 11756148 (1)
    anemia hemolytic 72 1 17124035 (1)
    cytopenia 64.6 1 14584753 (1)
    hematologic disorders 63.2 4 10389589 (1), 7543308 (1), 7485098 (1), 9238050 (1)

    Genetic Association Database (GAD): PIGA

    Export disorders for PIGA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for PIGA gene, integrated from 10 sources (see all 198):
    (articles sorted by number of sources associating them with PIGA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficiency of the GPI anchor caused by a somatic mutation of the PIG- A gene in paroxysmal nocturnal hemoglobinuria. (PubMed id 8500164)1, 2, 3, 9 Takeda J.... Kinoshita T. (Cell 1993)
    2. Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21. (PubMed id 8081362)1, 2, 9 Bessler M.... Mason P.J. (Hum. Mol. Genet. 1994)
    3. The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. (PubMed id 10087994)1, 2, 9 Nafa K.... Luzzatto L. (Blood Cells Mol. Dis. 1998)
    4. Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. (PubMed id 8193350)1, 2, 9 Iida Y.... Kinoshita T. (Blood 1994)
    5. Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PubMed id 8167330)1, 2, 9 Ware R.E.... Howard T.A. (Blood 1994)
    6. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. (PubMed id 8306954)1, 2, 9 Bessler M.... Kinoshita T. (EMBO J. 1994)
    7. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. (PubMed id 7680492)1, 2, 9 Miyata T.... Kinoshita T. (Science 1993)
    8. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. (PubMed id 22305531)1, 2 Johnston J.J.... Biesecker L.G. (Am. J. Hum. Genet. 2012)
    9. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PubMed id 16162815)1, 2 Murakami Y....Kinoshita T. (Mol. Biol. Cell 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5277 HGNC: 8957 AceView: PIGA Ensembl:ENSG00000165195 euGenes: HUgn5277
    ECgene: PIGA Kegg: 5277 H-InvDB: PIGA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PIGA Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PIGA gene:
    Search GeneIP for patents involving PIGA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PIGA  
     OriGene qPCR primer pairs and template standards for PIGA   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PIGA  
     OriGene qSTAR qPCR primer pairs in human, mouse for PIGA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PIGA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PIGA   OriGene Custom Protein Services for PIGA  

     
     
     Block miRNA regulation of human, mouse, rat PIGA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PIGA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGA Predesigned siRNA for gene silencing in human, mouse, rat PIGA
     QuantiFast Probe-based Assays in human, mouse, rat PIGA QuantiTect SYBR Green Assays in human, mouse, rat PIGA
     Custom PCR Arrays for PIGA Search Chromatin IP Primers for PIGA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGA  GeneGlobe Interaction Network for PIGA
     Regulatory tfbs in PIGA promoter
     GenScript Custom Purified and Recombinant Proteins Services for PIGA GenScript cDNA clones with any tag delivered in your preferred vector for PIGA
     GenScript Custom Assay Services for PIGA GenScript Custom overexpressing Cell Line Services for PIGA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PIGA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for PIGA
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PIGA antibodies
     PIGA proteins
     Antibodies for PIGA
     See all of Abcam's Antibodies, Kits and Proteins for PIGA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PIGA
     Antibodies for PIGA
     ELISAs for PIGA
     CLIAs for PIGA



     Browse ESI BIO Cell Lines and PureStem Progenitors for PIGA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGA
     SwitchGear 3'UTR luciferase reporter plasmids for PIGA
     SwitchGear Promoter luciferase reporter plasmids for PIGA
     Search ThermoFisher Antibodies for PIGA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGA
     Browse compounds at ApexBio
     Search Addgene for plasmids for PIGA
      Search eBioscience for proteins for PIGA
      Search eBioscience for elisas for PIGA
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PIGA
     antibodies-online antibodies for PIGA (33 products)
     antibodies-online kits for PIGA (4 products)
     antibodies-online peptides for PIGA
     antibodies-online proteins for PIGA (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PIGA gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4