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

Gene ID: 56176, updated on 13-Oct-2022

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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See Pigp in Genome Data Viewer
Location:
16; 16 C4
Exon count:
8
Annotation release Status Assembly Chr Location
109 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 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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 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
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
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/Swiss-Prot
    Q9JHG1
    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/Swiss-Prot
    Q9JHG1
    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/Swiss-Prot
    Q9JHG1
    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
    B8JK65, Q6P8Q9
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

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