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    Pigv phosphatidylinositol glycan anchor biosynthesis, class V [ Mus musculus (house mouse) ]

    Gene ID: 230801, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pigvprovided by MGI
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis, class Vprovided by MGI
    Primary source
    MGI:MGI:2442480
    See related
    Ensembl:ENSMUSG00000043257 AllianceGenome:MGI:2442480
    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
    B330013B03; D430024F16Rik
    Summary
    Predicted to enable mannosyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be part of mannosyltransferase complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hyperphosphatasia with impaired intellectual development syndrome 1. Orthologous to human PIGV (phosphatidylinositol glycan anchor biosynthesis class V). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 6.7), thymus adult (RPKM 6.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pigv in Genome Data Viewer
    Location:
    4 D2.3; 4 66.25 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (133387071..133401498, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (133659359..133673995, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene zinc finger, DHHC domain containing 18 Neighboring gene STARR-positive B cell enhancer ABC_E2717 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:133181580-133181767 Neighboring gene STARR-positive B cell enhancer ABC_E3523 Neighboring gene predicted gene 13213 Neighboring gene STARR-seq mESC enhancer starr_11644 Neighboring gene STARR-positive B cell enhancer ABC_E3524 Neighboring gene STARR-seq mESC enhancer starr_11646 Neighboring gene AT-rich interaction domain 1A Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:133262956-133263109 Neighboring gene microRNA 7227 Neighboring gene STARR-positive B cell enhancer ABC_E3525 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:133313458-133313641 Neighboring gene predicted gene, 30019 Neighboring gene predicted gene, 29942

    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. A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Rodríguez de Los Santos M, et al. Proc Natl Acad Sci U S A, 2021 Jan 12. PMID 33402532, Free PMC Article
    2. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. Kang JY, et al. J Biol Chem, 2005 Mar 11. PMID 15623507
    3. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Li Y, et al. Nature, 2015 May 28. PMID 25807483, Free PMC Article
    4. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    5. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
      Title: A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (1)  1 citation
    • Gene trapped (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
    enables alpha-1,6-mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glycolipid mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    involved_in GPI anchor biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    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 endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of mannosyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    GPI mannosyltransferase 2
    Names
    GPI mannosyltransferase II
    GPI-MT-II
    PIG-V
    phosphatidylinositol glycan, class V
    phosphatidylinositol-glycan biosynthesis class V protein
    NP_001139427.1
    NP_001139428.1
    NP_001343395.1
    NP_848813.3
    XP_030109328.1

    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_001145955.1 → NP_001139427.1  GPI mannosyltransferase 2 isoform 2

      See identical proteins and their annotated locations for NP_001139427.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK046527, AK080590, BX537327
      UniProtKB/Swiss-Prot
      Q7TPN3
      Conserved Domains (1) summary
      cl21590
      Location:25 → 211
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    2. NM_001145956.1 → NP_001139428.1  GPI mannosyltransferase 2 isoform 3

      See identical proteins and their annotated locations for NP_001139428.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK080590, BX537327
      Consensus CDS
      CCDS51322.1
      UniProtKB/Swiss-Prot
      Q7TPN3
      Related
      ENSMUSP00000065601.7, ENSMUST00000067902.13
      Conserved Domains (1) summary
      cl21590
      Location:12 → 119
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    3. NM_001356466.1 → NP_001343395.1  GPI mannosyltransferase 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AK046527, BX537327, BY104545
      Consensus CDS
      CCDS18755.1
      UniProtKB/Swiss-Prot
      Q7TPN3, Q8BGL2, Q8BJR5, Q8BWH9, Q8BXF5
      Conserved Domains (1) summary
      pfam04188
      Location:9 → 493
      Mannosyl_trans2; Mannosyltransferase (PIG-V)

    4. NM_178698.5 → NP_848813.3  GPI mannosyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_848813.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AK046527, AK080590, BX537327
      Consensus CDS
      CCDS18755.1
      UniProtKB/Swiss-Prot
      Q7TPN3, Q8BGL2, Q8BJR5, Q8BWH9, Q8BXF5
      Related
      ENSMUSP00000050647.5, ENSMUST00000062118.11
      Conserved Domains (1) summary
      pfam04188
      Location:9 → 493
      Mannosyl_trans2; Mannosyltransferase (PIG-V)

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      133387071..133401498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253468.2 → XP_030109328.1  GPI mannosyltransferase 2 isoform X1

      Conserved Domains (1) summary
      cl21590
      Location:4 → 397
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TPN3.2 GenPept UniProtKB/Swiss-Prot:Q7TPN3

    Gene LinkOut

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

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