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    Pign phosphatidylinositol glycan anchor biosynthesis, class N [ Mus musculus (house mouse) ]

    Gene ID: 27392, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pignprovided by MGI
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis, class Nprovided by MGI
    Primary source
    MGI:MGI:1351629
    See related
    Ensembl:ENSMUSG00000056536 AllianceGenome:MGI:1351629
    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-N; Gm20308
    Summary
    Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in cytosol and plasma membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system and retina. Used to study holoprosencephaly. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 3.0), testis adult (RPKM 2.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pign in Genome Data Viewer
    Location:
    1 E2.1; 1 49.63 cM
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (105446147..105591466, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (105518421..105663741, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 28403 Neighboring gene predicted gene, 57564 Neighboring gene STARR-seq mESC enhancer starr_01842 Neighboring gene 60S ribosomal protein L37a-like Neighboring gene STARR-positive B cell enhancer mm9_chr1:107527155-107527456 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:107559805-107559992 Neighboring gene STARR-positive B cell enhancer ABC_E988 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Neighboring gene predicted gene 10193

    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. Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. Hong Y, et al. J Biol Chem, 1999 Dec 3. PMID 10574991
    2. GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol. Shishioh N, et al. J Biol Chem, 2005 Mar 11. PMID 15632136
    3. Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly. McKean DM, et al. Biol Open, 2012 Sep 15. PMID 23213481, Free PMC Article
    4. Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. Tamplin OJ, et al. BMC Genomics, 2008 Oct 30. PMID 18973680, Free PMC Article
    5. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables mannose-ethanolamine phosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannose-ethanolamine phosphotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphotransferase activity, for other substituted phosphate groups TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    GPI ethanolamine phosphate transferase 1
    Names
    phosphatidylinositol glycan, class N
    phosphatidylinositol-glycan biosynthesis class N protein

    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_013784.3 → NP_038812.2  GPI ethanolamine phosphate transferase 1

      See identical proteins and their annotated locations for NP_038812.2

      Status: VALIDATED

      Source sequence(s)
      AC132082, AC166354
      Consensus CDS
      CCDS15205.1
      UniProtKB/Swiss-Prot
      Q3V0S6, Q8VCC3, Q9R1S1, Q9R1S2, Q9R1S3
      UniProtKB/TrEMBL
      G3X9F1
      Related
      ENSMUSP00000139638.2, ENSMUST00000186485.7
      Conserved Domains (2) summary
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      105446147..105591466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321076.2 → XP_017176565.1  GPI ethanolamine phosphate transferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3V0S6, Q8VCC3, Q9R1S1, Q9R1S2, Q9R1S3
      UniProtKB/TrEMBL
      G3X9F1
      Conserved Domains (2) summary
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
      pfam04987
      Location:431 → 884
      PigN; Phosphatidylinositolglycan class N (PIG-N)

    2. XM_006529676.5 → XP_006529739.1  GPI ethanolamine phosphate transferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A087WQ32, A0A087WS03
      Related
      ENSMUSP00000140020.2, ENSMUST00000187537.7
      Conserved Domains (2) summary
      cd16020
      Location:40 → 345
      GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
      pfam04987
      Location:431 → 795
      PigN; Phosphatidylinositolglycan class N (PIG-N)

    RNA

    1. XR_003955701.2 RNA Sequence

    2. XR_004942589.1 RNA Sequence

    3. XR_003955700.2 RNA Sequence

    4. XR_387175.4 RNA Sequence

    5. XR_387174.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R1S3.2 GenPept UniProtKB/Swiss-Prot:Q9R1S3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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