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    Pigq phosphatidylinositol glycan anchor biosynthesis, class Q [ Mus musculus (house mouse) ]

    Gene ID: 14755, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pigqprovided by MGI
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis, class Qprovided by MGI
    Primary source
    MGI:MGI:1333114
    See related
    Ensembl:ENSMUSG00000025728 AllianceGenome:MGI:1333114
    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
    Gpi1; Gpih; Gpi1h; Gpi1p
    Summary
    Contributes to phosphatidylinositol N-acetylglucosaminyltransferase activity. Acts upstream of or within GPI anchor biosynthetic process. Part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Is expressed in several structures, including alimentary system; genitourinary system; liver and biliary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 4. Orthologous to human PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 87.8), liver E14 (RPKM 63.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pigq in Genome Data Viewer
    Location:
    17 A3.3; 17 13.01 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (26145398..26161855, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25926420..25942881, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene WAP, FS, Ig, KU, and NTR-containing protein 1 Neighboring gene Rab40C, member RAS oncogene family Neighboring gene cytochrome c oxidase subunit 7C, pseudogene 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:26056925-26057108 Neighboring gene RIKEN cDNA gene D630044L22 gene Neighboring gene NHL repeat containing 4 Neighboring gene proline rich 35 Neighboring gene calpain 15

    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 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. GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis. Hong Y, et al. J Biol Chem, 1999 Jun 25. PMID 10373468
    2. Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. Tiede A, et al. Biochem J, 1998 Sep 15. PMID 9729469, Free PMC Article
    3. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. Watanabe R, et al. EMBO J, 2000 Aug 15. PMID 10944123, Free PMC Article
    4. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

    See all (23) 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)
    • Targeted (2) 

    Pathways from PubChem

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    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
    contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IMP
    Inferred from Mutant Phenotype
    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
    		  
    acts_upstream_of_or_within GPI anchor biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GPI anchor biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
    Names
    N-acetylglucosamyl transferase component GPI1
    PIG-Q
    phosphatidylinositol-glycan biosynthesis class Q protein
    NP_001277954.1
    NP_001344521.1
    NP_001400203.1
    NP_001400204.1
    NP_001400205.1
    NP_001400206.1
    NP_001400207.1
    NP_001400208.1
    NP_035952.2
    XP_006523727.1
    XP_017172745.1
    XP_030105362.1

    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_001291025.2 → NP_001277954.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1

      See identical proteins and their annotated locations for NP_001277954.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC159277
      Consensus CDS
      CCDS70774.1
      UniProtKB/TrEMBL
      Q3TD14
      Related
      ENSMUSP00000094981.4, ENSMUST00000097368.10
      Conserved Domains (1) summary
      pfam05024
      Location:373 → 523
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    2. NM_001357592.2 → NP_001344521.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159277
      Conserved Domains (1) summary
      pfam05024
      Location:315 → 332
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    3. NM_001413274.1 → NP_001400203.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC159277

    4. NM_001413275.1 → NP_001400204.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC159277
      UniProtKB/Swiss-Prot
      O35120, O35456, Q99L11, Q9QYT7
      UniProtKB/TrEMBL
      Q3TF56
      Related
      ENSMUSP00000146704.2, ENSMUST00000208043.2

    5. NM_001413276.1 → NP_001400205.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC159277
      UniProtKB/Swiss-Prot
      O35120, O35456, Q99L11, Q9QYT7
      UniProtKB/TrEMBL
      Q3TF56

    6. NM_001413277.1 → NP_001400206.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC159277

    7. NM_001413278.1 → NP_001400207.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159277

    8. NM_001413279.1 → NP_001400208.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC159277

    9. NM_011822.5 → NP_035952.2  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2

      See identical proteins and their annotated locations for NP_035952.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC159277
      Consensus CDS
      CCDS28538.1
      UniProtKB/Swiss-Prot
      O35120, O35456, Q99L11, Q9QYT7
      UniProtKB/TrEMBL
      A0A140LHE9, Q3TF56
      Related
      ENSMUSP00000026823.9, ENSMUST00000026823.16
      Conserved Domains (1) summary
      pfam05024
      Location:312 → 463
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    RNA

    1. NR_182132.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159277

    2. NR_182133.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159277
      Related
      ENSMUST00000148045.8

    3. NR_182135.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159277

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      26145398..26161855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249502.2 → XP_030105362.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform X2

      UniProtKB/Swiss-Prot
      O35120, O35456, Q99L11, Q9QYT7
      UniProtKB/TrEMBL
      A0A140LHE9, Q3TF56
      Conserved Domains (1) summary
      pfam05024
      Location:312 → 463
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    2. XM_017317256.2 → XP_017172745.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform X1

      UniProtKB/TrEMBL
      Q3TD14
      Conserved Domains (1) summary
      pfam05024
      Location:373 → 523
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    3. XM_006523664.4 → XP_006523727.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform X1

      See identical proteins and their annotated locations for XP_006523727.1

      UniProtKB/TrEMBL
      Q3TD14
      Conserved Domains (1) summary
      pfam05024
      Location:373 → 523
      Gpi1; N-acetylglucosaminyl transferase component (Gpi1)

    RNA

    1. XR_003952090.1 RNA Sequence

    2. XR_385283.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QYT7.3 GenPept UniProtKB/Swiss-Prot:Q9QYT7

    Gene LinkOut

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

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