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PIGV Gene

protein-coding   GIFtS: 54
GCID: GC01P027113

Phosphatidylinositol Glycan Anchor Biosynthesis, Class V

(Previous names: phosphatidylinositol glycan, class V)
  See PIGV-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class V1 2     HPMRS12 5
Dol-P-Man Dependent GPI Mannosyltransferase1 2     Phosphatidylinositol Glycan, Class V1
GPI Mannosyltransferase 21 2     Ybr004c Homolog2
GPI-MT-II2 3     EC 2.4.1.-3
PIG-V2 3     Phosphatidylinositol-Glycan Biosynthesis Class V Protein3
GPI Mannosyltransferase II2 3     

External Ids:    HGNC: 260311   Entrez Gene: 556502   Ensembl: ENSG000000606427   OMIM: 6102745   UniProtKB: Q9NUD93   

Export aliases for PIGV gene to outside databases

Previous GC identifers: GC01P026799 GC01P026987 GC01P025367


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PIGV Gene:
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI).
GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple
cellular processes including protein sorting and signal transduction. The encoded protein is localized to the
endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated
with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed
for this gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for PIGV Gene:
PIGV (phosphatidylinositol glycan anchor biosynthesis, class V) is a protein-coding gene. Diseases associated with PIGV include hyperphosphatasia with mental retardation syndrome, and mabry syndrome. GO annotations related to this gene include mannosyltransferase activity.

UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9
Function: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers
the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly

Gene Wiki entry for PIGV Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGV gene promoter:
         TBP   NF-1   NF-1/L   AP-1   p53   RORalpha2   GATA-2   NF-Y   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGV promoter sequence
   Search Chromatin IP Primers for PIGV

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGV


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.11

PIGV Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIGV gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P027113:  view genomic region     (about GC identifiers)

Start:
27,113,963 bp from pter      End:
27,124,894 bp from pter
Size:
10,932 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9 (See protein sequence)
Recommended Name: GPI mannosyltransferase 2  
Size: 493 amino acids; 55713 Da
Sequence caution: Sequence=CAI21625.1; Type=Erroneous gene model prediction; Sequence=CAI21626.1; Type=Erroneous
gene model prediction; Sequence=CAI21627.1; Type=Erroneous gene model prediction;
Secondary accessions: D3DPL2 Q5JYG7 Q5JYG8 Q5JYG9 Q9NX26

Explore the universe of human proteins at neXtProt for PIGV: NX_Q9NUD9

Explore proteomics data for PIGV at MOPED

Post-translational modifications: 

  • Not N-glycosylated1
  • Ubiquitination2 at Lys283
  • Modification sites at PhosphoSitePlus

  • See PIGV Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001189483.1  NP_060307.2  

    ENSEMBL proteins: 
     ENSP00000399067   ENSP00000436884   ENSP00000078527   ENSP00000388425   ENSP00000363260  
     ENSP00000406080   ENSP00000395156  
    Reactome Protein details: Q9NUD9

    PIGV Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PIGV

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases
    PIG: Phosphatidylinositol glycan anchor biosynthesis

    1 InterPro protein domain:
     IPR007315 GPI_Mannosyltransferase_2

    Graphical View of Domain Structure for InterPro Entry Q9NUD9

    ProtoNet protein and cluster: Q9NUD9

    UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9
    Similarity: Belongs to the PIGV family


    Find genes that share domains with PIGV           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIGV_HUMAN, Q9NUD9
    Function: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers
    the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity IMP15623507
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    Find genes that share ontologies with PIGV           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PIGV:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIGV
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    hsa-miR-448 hsa-miR-4282
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PIGV_HUMAN, Q9NUD9: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane NAS15623507

    Find genes that share ontologies with PIGV           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PIGV About    
    See pathways by source

    SuperPathContained pathways About
    1Post-translational modification- synthesis of GPI-anchored proteins
    Post-translational modification- synthesis of GPI-anchored proteins0.76
    Synthesis of glycosylphosphatidylinositol (GPI)0.00
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.76
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with PIGV           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PIGV
        Synthesis of glycosylphosphatidylinositol (GPI)


    2 Kegg Pathways  (Kegg details for PIGV):
        Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIGV
    Interactions:

        Search GeneGlobe Interaction Network for PIGV

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for PIGV (Q9NUD93 ENSP000000785274) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBL1P287493I2D: score=1 
    PIGBENSP000001643054STRING: ENSP00000164305
    PIGMENSP000003570694STRING: ENSP00000357069
    PIGNENSP000003502634STRING: ENSP00000350263
    PIGXENSP000003173014STRING: ENSP00000317301
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process IMP15623507
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with PIGV           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIGV

    Selected HMDB Compounds for PIGV (see all 898)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PIGV gene (2 alternative transcripts): 
    NM_001202554.1  NM_017837.3  

    Unigene Cluster for PIGV:

    Phosphatidylinositol glycan anchor biosynthesis, class V
    Hs.259605  [show with all ESTs]
    Unigene Representative Sequence: NM_001202554
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430292 ENST00000472757 ENST00000078527(uc001bmz.3) ENST00000431541
    ENST00000374145(uc001bna.3 uc010ofg.2) ENST00000455364 ENST00000449950

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    hsa-miR-448 hsa-miR-4282
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK000484.1 AK056539.1 AK097053.1 AK225521.1 AK301626.1 BC013568.1 

    9 DOTS entries:

    DT.453289  DT.95192958  DT.95192959  DT.95192956  DT.100782179  DT.100782183  DT.40131291  DT.75122344 
    DT.91741257 

    Selected AceView cDNA sequences (see all 130):

    CR599392 CA425851 AI420563 BG831593 CR609465 BP382023 CN480741 BX401026 
    AI472810 AW968907 CD251053 AA252931 CD370164 AA488402 BX357688 BP381930 
    NM_017837 BF222172 BC013568 BF476029 AI659888 Z38327 CA306927 BG332007 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGV (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9 ^ 10
    SP1:                                            -     -     -     -                 -                                                               
    SP2:                                                              -                 -                                                               
    SP3:                                                  -     -     -           -                                                                     
    SP4:        -     -     -     -     -     -     -     -     -     -                 -                                                               
    SP5:                    -     -     -     -     -     -     -     -                 -                                                               


    ECgene alternative splicing isoforms for PIGV

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PIGV expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGGACTC
    PIGV Expression
    About this image


    PIGV expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Testis (Reproductive System)
    PIGV Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGV Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.259605
        Custom PCR Arrays for PIGV
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGV gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigv1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 82.34(n)1
    79.96(a)1
      4 (66.25 cM)5
    2308011  NM_178698.51  NP_848813.31 
     1336603875 
    chicken
    (Gallus gallus)
    Aves PIGV1 phosphatidylinositol glycan anchor biosynthesis, class more 62.1(n)
    59.96(a)
      771632  XM_003642561.2  XP_003642609.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGV6
    phosphatidylinositol glycan anchor biosynthesis, c...
    56(a)
    1 ↔ 1
    GL343488.1(112562-118405)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pigv1 phosphatidylinositol glycan anchor biosynthesis, class more 54.41(n)
    50.75(a)
      100380028  XM_002934645.2  XP_002934691.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pigv1 phosphatidylinositol glycan anchor biosynthesis, class more 55.33(n)
    52.25(a)
      100148642  NM_001200060.1  NP_001186989.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta veg1 vegetable 48.49(n)
    35.66(a)
      44057  NM_079946.3  NP_524685.2 
    worm
    (Caenorhabditis elegans)
    Secernentea T09B4.11 T09B4.1 45.97(n)
    30.9(a)
      172305  NM_059382.4  NP_491783.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G118801 AT1G11880 46.52(n)
    35.26(a)
      837736  NM_101059.2  NP_172652.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g04987001 Os12g0498700 45.07(n)
    35.22(a)
      4352265  NM_001073345.1  NP_001066813.1 


    ENSEMBL Gene Tree for PIGV (if available)
    TreeFam Gene Tree for PIGV (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIGV (see all 252)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0641934
    Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)4--see VAR_0641932 H P mis40--------
    VAR_0641914
    Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)4--see VAR_0641912 A E mis40--------
    VAR_0641904
    Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)4--see VAR_0641902 Q K mis40--------
    VAR_0641924
    Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)4--see VAR_0641922 A V mis40--------
    rs1390734161,2
    Cpathogenic127338805(+) CTGGGA/C/TAACTT 6 E A V mis11NA 4552
    rs345668751,2
    C--27118812(+) TGTATT/-TTTTT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs358492471,2
    C--27329719(+) TTCTAG/AAATAG 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1412604531,2
    --27329753(+) GGTTAC/GGGATT 1 -- us2k10--------
    rs1151950641,2
    C,F--27329770(+) TGATAT/CTGTTT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs755489551,2
    C,F--27329771(+) GATATT/CGTTTC 1 -- us2k11Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for PIGV (27113963 - 27124894 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PIGV:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870975CNV Loss21882294

    Human Gene Mutation Database (HGMD): PIGV
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIGV
    DNA2.0 Custom Variant and Variant Library Synthesis for PIGV

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610274   
    OMIM disorders: 239300  
    UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9
  • Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome
    characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial
    dysmorphism, and hypoplastic terminal phalanges. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for PIGV:    
    About MalaCards
    hyperphosphatasia with mental retardation syndrome    mabry syndrome    hyperphosphatasia with mental retardation syndrome 1    glycosylphosphatidylinositol deficiency

    1 disease from the University of Copenhagen DISEASES database for PIGV:
    Intellectual disability

    Find genes that share disorders with PIGV           About GenesLikeMe


    Export disorders for PIGV gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIGV gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with PIGV)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. (PubMed id 15623507)1, 2, 3 Kang J.Y.... Kinoshita T. (J. Biol. Chem. 2005)
    2. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. (PubMed id 20802478)1, 2 Krawitz P.M.... Robinson P.N. (Nat. Genet. 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly. (PubMed id 15720390)1, 2 Fabre A.-L.... Taron C.H. (FEBS J. 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    8. Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. (PubMed id 23694781)1 Hirata T....Kinoshita T. (J. Biochem. 2013)
    9. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. (PubMed id 22228761)1 Murakami Y....Kinoshita T. (J. Biol. Chem. 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55650 HGNC: 26031 AceView: FLJ20477 Ensembl:ENSG00000060642 euGenes: HUgn55650
    ECgene: PIGV Kegg: 55650 H-InvDB: PIGV

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIGV Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PIGV gene:
    Search GeneIP for patents involving PIGV

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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