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    Piga phosphatidylinositol glycan anchor biosynthesis, class A [ Mus musculus (house mouse) ]

    Gene ID: 18700, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pigaprovided by MGI
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis, class Aprovided by MGI
    Primary source
    MGI:MGI:99461
    See related
    Ensembl:ENSMUSG00000031381 AllianceGenome:MGI:99461
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pig-a
    Summary
    Predicted to enable phosphatidylinositol N-acetylglucosaminyltransferase activity. Acts upstream of or within GPI anchor biosynthetic process and cellular response to leukemia inhibitory factor. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Is expressed in 1st branchial arch; central nervous system; heart; limb; and medial-nasal process. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 2 and paroxysmal nocturnal hemoglobinuria. Orthologous to human PIGA (phosphatidylinositol glycan anchor biosynthesis class A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 4.8), liver E14 (RPKM 4.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Piga in Genome Data Viewer
    Location:
    X F5; X 76.49 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (163202814..163216912)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (164419780..164433916)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene pirin Neighboring gene predicted gene, 22023 Neighboring gene STARR-seq mESC enhancer starr_48238 Neighboring gene vascular endothelial growth factor D Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:160844233-160844342 Neighboring gene STARR-seq mESC enhancer starr_48240 Neighboring gene STARR-positive B cell enhancer ABC_E269 Neighboring gene ankyrin repeat and SOCS box-containing 11 Neighboring gene chromobox protein homolog 1-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Different roles of glycosylphosphatidylinositol in various hematopoietic cells as revealed by a mouse model of paroxysmal nocturnal hemoglobinuria. Murakami Y, et al. Blood, 1999 Nov 1. PMID 10556178
    2. Enhanced responses of glycosylphosphatidylinositol anchor-deficient T lymphocytes. Hazenbos WL, et al. J Immunol, 2004 Sep 15. PMID 15356128
    3. Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features. Hara-Chikuma M, et al. J Invest Dermatol, 2004 Sep. PMID 15304084
    4. G-CSF induced progenitor mobilization in mice with PIGA- blood cells. Han B, et al. Hematol J, 2004. PMID 15297852
    5. GPI-anchor deficiency in myeloid cells causes impaired FcgammaR effector functions. Hazenbos WL, et al. Blood, 2004 Nov 1. PMID 15238423

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dextran sulfate sodium mouse model of inflammatory bowel disease evaluated for systemic genotoxicity via blood micronucleus and Pig-a gene mutation assays.
      Title: Dextran sulfate sodium mouse model of inflammatory bowel disease evaluated for systemic genotoxicity via blood micronucleus and Pig-a gene mutation assays.
    2. The reliability of using GPI anchor-deficiency as a valid reporter of Pig-a gene mutation.
      Title: Glycosylphosphatidylinositol (GPI) anchored protein deficiency serves as a reliable reporter of Pig-a gene Mutation: Support from an in vitro assay based on L5178Y/Tk(+/-) cells and the CD90.2 antigen.
    3. The assay may be useful for mutagenicity screening of environmental agents as well as for testing hypotheses in vitro before committing to in vivo Pig-a assays.
      Title: Establishing a novel Pig-a gene mutation assay in L5178YTk(+/-) mouse lymphoma cells.
    4. Pig-a mutations were identified in all clones developed from CD90-deficient cells; no Pig-a mutations were found in clones of CD90-proficient cells. The spectrum of B[a]P-induced Pig-a mutations was dominated by basepair substitutions, small insertions and deletions at G:C, or at sequences rich in G:C content.
      Title: Spectrum of benzo[a]pyrene-induced mutations in the Pig-a gene of L5178YTk(+/-) cells identified with next generation sequencing.
    5. Diet-induced obesity increases the frequency of Pig-a mutant erythrocytes in male C57BL/6J mice.
      Title: Diet-induced obesity increases the frequency of Pig-a mutant erythrocytes in male C57BL/6J mice.
    6. Single cell gel electrophoresis (SCGE) and Pig-a mutation assay in vivo-tools for genotoxicity testing from a regulatory perspective: a study of benzo[a]pyrene in Ogg1(-/-) mice.
      Title: Single cell gel electrophoresis (SCGE) and Pig-a mutation assay in vivo-tools for genotoxicity testing from a regulatory perspective: a study of benzo[a]pyrene in Ogg1(-/-) mice.
    7. Reduced IgE/antigen-mediated passive cutaneous anaphylaxis is detected in mice with Piga-deficient mast cells.
      Title: Impaired FcεRI stability, signaling, and effector functions in murine mast cells lacking glycosylphosphatidylinositol-anchored proteins.
    8. Deletion of the Pig-a gene in hematopoietic cells does not cause frank marrow failure but leads to the appearance of clonally-restricted, inactive yet functionally competent CD8 T cells.
      Title: Phenotypic and functional characterization of a mouse model of targeted Pig-a deletion in hematopoietic cells.
    9. Piga expression is required to properly orient hair cells in the inner ear, a process regulated by the planar cell polarity pathway.
      Title: Convergent extension movements in growth plate chondrocytes require gpi-anchored cell surface proteins.
    10. Pig-a-knockout females are infertile, and eggs recovered from the females after mating are unfertilized.
      Title: Infertility in female mice with an oocyte-specific knockout of GPI-anchored proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphatidylinositol N-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GPI anchor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol N-acetylglucosaminyltransferase subunit A
    Names
    N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein
    glcNAc-PI synthesis protein
    phosphatidylinositol glycan, class A
    phosphatidylinositol-glycan biosynthesis class A protein
    phosphatidylinositolglycan class A
    NP_035211.2
    XP_011246095.1
    XP_017173917.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_011081.4 → NP_035211.2  phosphatidylinositol N-acetylglucosaminyltransferase subunit A

      See identical proteins and their annotated locations for NP_035211.2

      Status: VALIDATED

      Source sequence(s)
      AL732475
      Consensus CDS
      CCDS30522.1
      UniProtKB/Swiss-Prot
      Q64323, Q6LD71, Q8CCQ6
      UniProtKB/TrEMBL
      A2AIH5, Q3TU17
      Related
      ENSMUSP00000033754.8, ENSMUST00000033754.15
      Conserved Domains (1) summary
      cd03796
      Location:34 → 433
      GT4_PIG-A-like; phosphatidylinositol N-acetylglucosaminyltransferase subunit A and similar proteins

    RNA

    1. NR_152315.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL732475
      Related
      ENSMUST00000112257.10

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      163202814..163216912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017318428.3 → XP_017173917.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X1

      UniProtKB/Swiss-Prot
      Q64323, Q6LD71, Q8CCQ6
      UniProtKB/TrEMBL
      A2AIH5, Q3TU17
      Related
      ENSMUSP00000107874.2, ENSMUST00000112255.8
      Conserved Domains (1) summary
      cd03796
      Location:34 → 433
      GT4_PIG-A-like; phosphatidylinositol N-acetylglucosaminyltransferase subunit A and similar proteins

    2. XM_011247793.3 → XP_011246095.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X2

      UniProtKB/TrEMBL
      A0A140LI97
      Related
      ENSMUSP00000146731.2, ENSMUST00000208697.2
      Conserved Domains (1) summary
      cl10013
      Location:13 → 208
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q64323.1 GenPept UniProtKB/Swiss-Prot:Q64323

    Gene LinkOut

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