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    Pigp phosphatidylinositol glycan anchor biosynthesis, class P [ Mus musculus (house mouse) ]

    Gene ID: 56176, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pigpprovided by MGI
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis, class Pprovided by MGI
    Primary source
    MGI:MGI:1860433
    See related
    Ensembl:ENSMUSG00000022940 AllianceGenome:MGI:1860433
    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
    Dcrc; Dscr5
    Summary
    Predicted to contribute to phosphatidylinositol N-acetylglucosaminyltransferase activity. Acts upstream of or within GPI anchor biosynthetic process. Located in endoplasmic reticulum. Is expressed in several structures, including alimentary system; branchial arch; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 55. Orthologous to human PIGP (phosphatidylinositol glycan anchor biosynthesis class P). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 11.8), adrenal adult (RPKM 11.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 C4; 16 55.18 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (94159622..94171874, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (94358763..94371015, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31259 Neighboring gene STARR-positive B cell enhancer ABC_E5565 Neighboring gene predicted gene, 53180 Neighboring gene developmental pluripotency associated 5 pseudogene Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene predicted gene, 23692 Neighboring gene predicted gene, 31323 Neighboring gene VPS26 endosomal protein sorting factor C

    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. Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5). Choi DK, et al. Mamm Genome, 2001 May. PMID 11331941
    2. Genetic analysis of Down syndrome-associated heart defects in mice. Liu C, et al. Hum Genet, 2011 Nov. PMID 21442329, Free PMC Article
    3. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Lukacs M, et al. Elife, 2019 Jun 24. PMID 31232685, Free PMC Article
    4. 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
    5. Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21. Pletcher MT, et al. Genomics, 2001 May 15. PMID 11374901

    See all (22) 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)
    • Endonuclease-mediated (1) 

    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
    contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol N-acetylglucosaminyltransferase subunit P
    Names
    Down syndrome critical region gene c
    Down syndrome critical region homolog 5
    PIG-P
    down syndrome critical region protein 5 homolog
    phosphatidylinositol-glycan biosynthesis class P protein
    NP_001153088.1
    NP_001153089.1
    NP_001153090.1
    NP_001153091.1
    NP_001153092.1
    NP_062416.1

    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_001159616.1 → NP_001153088.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform a

      See identical proteins and their annotated locations for NP_001153088.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), also known as DCRC-1, represents use of an alternate promoter and uses a downstream start codon compared to variant 6. The resulting isoform (a) has a shorter N-terminus, compared to isoform a. Both variants 1 and 4 encode the same isoform.
      Source sequence(s)
      BC096569, BY041400
      Consensus CDS
      CCDS28348.1
      UniProtKB/Swiss-Prot
      Q9JHG1
      Related
      ENSMUSP00000109539.3, ENSMUST00000113906.9
      Conserved Domains (1) summary
      pfam08510
      Location:11 → 124
      PIG-P

    2. NM_001159617.1 → NP_001153089.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform e

      See identical proteins and their annotated locations for NP_001153089.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents the longest transcript and encodes the longest isoform (e).
      Source sequence(s)
      AC173208, BC096569
      Consensus CDS
      CCDS49920.1
      UniProtKB/TrEMBL
      B8JK67
      Related
      ENSMUSP00000109547.2, ENSMUST00000113914.8
      Conserved Domains (1) summary
      pfam08510
      Location:84 → 197
      PIG-P; PIG-P

    3. NM_001159618.1 → NP_001153090.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform b

      See identical proteins and their annotated locations for NP_001153090.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), also known as DCRC-2, represents use of an alternate promoter and uses an alternate translation start site, compared to variant 6. The resulting isoform (b) has a shorter and distinct N-terminus, compared to isoform e.
      Source sequence(s)
      AF216307, BC096569, BX511452
      Consensus CDS
      CCDS49919.1
      UniProtKB/TrEMBL
      B8JK66
      Related
      ENSMUSP00000109543.2, ENSMUST00000113910.8
      Conserved Domains (1) summary
      pfam08510
      Location:40 → 153
      PIG-P; PIG-P

    4. NM_001159619.1 → NP_001153091.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), also known as DCRC-3, represents use of an alternate promoter and uses an alternate translation start site, compared to variant 6. The resulting isoform (c) has a shorter and distinct N-terminus, compared to isoform e.
      Source sequence(s)
      AF216308, BC096569, CB596599
      UniProtKB/TrEMBL
      B8JK63
      Related
      ENSMUSP00000114477.2, ENSMUST00000138514.2
      Conserved Domains (1) summary
      pfam08510
      Location:44 → 157
      PIG-P

    5. NM_001159620.1 → NP_001153092.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter, uses an alternate translation start site, and has an alternate 3' exon, compared to variant 1. The resulting isoform (d) differs at the N- and C-termini compared to isoform a.
      Source sequence(s)
      BC061117, CB596599
      Consensus CDS
      CCDS49918.1
      UniProtKB/TrEMBL
      B8JK63, B8JK65
      Related
      ENSMUSP00000109550.2, ENSMUST00000113917.8
      Conserved Domains (1) summary
      pfam08510
      Location:44 → 124
      PIG-P; PIG-P

    6. NM_019543.3 → NP_062416.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform a

      See identical proteins and their annotated locations for NP_062416.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), also known as DCRC-4, uses an alternate splice site near the 5' end and uses a downstream start codon compared to variant 6. The resulting isoform (a) has a shorter N-terminus, compared to isoform e. Both variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC173208, AF216309, BC096569
      Consensus CDS
      CCDS28348.1
      UniProtKB/Swiss-Prot
      Q9JHG1
      Related
      ENSMUSP00000109538.2, ENSMUST00000113905.8
      Conserved Domains (1) summary
      pfam08510
      Location:11 → 124
      PIG-P

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      94159622..94171874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JHG1.1 GenPept UniProtKB/Swiss-Prot:Q9JHG1

    Gene LinkOut

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