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    PIGA phosphatidylinositol glycan anchor biosynthesis class A [ Homo sapiens (human) ]

    Gene ID: 5277, updated on 10-Sep-2017
    Official Symbol
    PIGAprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Aprovided by HGNC
    Primary source
    HGNC:HGNC:8957
    See related
    Ensembl:ENSG00000165195 MIM:311770; Vega:OTTHUMG00000021174
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPI3; PNH1; PIG-A; MCAHS2
    Summary
    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]
    Orthologs
    Location:
    Xp22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (15319451..15335554, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15337573..15353676, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 9 Neighboring gene ankyrin repeat and SOCS box containing 11 Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene pirin

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Multiple congenital anomalies-hypotonia-seizures syndrome 2
    MedGen: C3275508 OMIM: 300868 GeneReviews: Not available
    Compare labs
    Paroxysmal nocturnal hemoglobinuria 1
    MedGen: C3806670 OMIM: 300818 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2014-11-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2014-11-04)

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    UDP-glycosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol N-acetylglucosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    GPI anchor biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    preassembly of GPI anchor in ER membrane TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    phosphatidylinositol N-acetylglucosaminyltransferase subunit A
    Names
    GLCNAC-PI synthesis protein
    GPI anchor biosynthesis
    class A GlcNAc-inositol phospholipid assembly protein
    phosphatidylinositol-glycan biosynthesis, class A protein
    NP_002632.1
    NP_065206.3
    XP_011543841.1
    XP_016885070.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009786.1 RefSeqGene

      Range
      4985..21088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_160

    mRNA and Protein(s)

    1. NM_002641.3NP_002632.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1

      See identical proteins and their annotated locations for NP_002632.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      BQ026877, D11466, DA951065
      Consensus CDS
      CCDS14165.1
      UniProtKB/Swiss-Prot
      P37287
      Related
      ENSP00000369820.3, OTTHUMP00000022959, ENST00000333590.5, OTTHUMT00000055854
      Conserved Domains (1) summary
      cd03796
      Location:34432
      GT1_PIG-A_like; This family is most closely related to the GT1 family of glycosyltransferases. Phosphatidylinositol glycan-class A (PIG-A), an X-linked gene in humans, is necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, a very early intermediate ...
    2. NM_020473.3NP_065206.3  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3

      See identical proteins and their annotated locations for NP_065206.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses an alternate start codon, compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK303538, BC038236, BQ026877, DA951065
      Consensus CDS
      CCDS48086.2
      UniProtKB/Swiss-Prot
      P37287
      Related
      ENSP00000489540.1, OTTHUMP00000281345, ENST00000634582.1, OTTHUMT00000488261
      Conserved Domains (2) summary
      COG0438
      Location:5167
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cl10013
      Location:5198
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    RNA

    1. NR_033835.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK098047, BC038236, BQ026877, DC347872
      Related
      ENST00000635598.1, OTTHUMT00000055857
    2. NR_033836.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the 5' coding region, as found in variant 1, and multiple upstream ORFs are present, which are predicted to interfere with the translation of the longest ORF.
      Source sequence(s)
      BC038236, BQ026877, CX870731, DA951065
      Related
      ENST00000638131.1, OTTHUMT00000490598

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      15319451..15335554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029581.1XP_016885070.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X1

      UniProtKB/Swiss-Prot
      P37287
      Related
      ENSP00000442653.2, OTTHUMP00000281343, ENST00000542278.6, OTTHUMT00000488259
      Conserved Domains (1) summary
      cd03796
      Location:34432
      GT1_PIG-A_like; This family is most closely related to the GT1 family of glycosyltransferases. Phosphatidylinositol glycan-class A (PIG-A), an X-linked gene in humans, is necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, a very early intermediate ...
    2. XM_011545539.2XP_011543841.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X2

      Conserved Domains (2) summary
      COG0438
      Location:3170
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cl10013
      Location:6201
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      15368527..15384630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020472.1: Suppressed sequence

      Description
      NM_020472.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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