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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

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