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

Gene ID: 230801, updated on 2-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 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

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