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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIGV Gene

protein-coding   GIFtS: 52
GCID: GC01P027113

phosphatidylinositol glycan anchor biosynthesis, class V

(Previous names: phosphatidylinositol glycan, class V )
 Explore 8 diseases affiliated with
PIGV via our new
 Human Malady Compendium 
Biological research products
for PIGV
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class V1 2     HPMRS12
GPI-MT-II2 3     GPI Mannosyltransferase 22
PIG-V2 3     Ybr004c Homolog2
GPI Mannosyltransferase II2 3     EC 2.4.1.-3
FLJ204771     Phosphatidylinositol-Glycan Biosynthesis Class V Protein3
Phosphatidylinositol Glycan, Class V1     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PIGV:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PIGV

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
27,124,889 bp from pter
Size:
10,927 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9 (See protein sequence)
Recommended Name: GPI mannosyltransferase 2  
Size: 493 amino acids; 55713 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • Not N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NUD9

  • PIGV Protein expression data from MOPED and PaxDb:    About this image 
    PIGV Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001189483.1  NP_060307.2  

    ENSEMBL proteins: 
     ENSP00000399067   ENSP00000436884   ENSP00000078527   ENSP00000388425   ENSP00000363260  
     ENSP00000406080   ENSP00000395156  
    Reactome Protein details: Q9NUD9
    Human Recombinant Protein Products for PIGV: 
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    Uscn Proteins for PIGV

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PIGV for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PIGV for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007315 GPI_Mannosyltransferase_2-like

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity IMP15623507
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    PIGV for ontologies           About GeneDecksing


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

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational modification: synthesis of GPI-anchored proteins1.00
    Synthesis of glycosylphosphatidylinositol (GPI)0.64
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15
    3Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for PIGV
        Metabolism of proteins
    Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational protein modification
    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


    PIGV for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIGV

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for PIGV (Q9NUD93 ENSP000000785274) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

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

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--

    PIGV for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PIGV

    10/898 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--
    Search CenterWatch for drugs/clinical trials and news about PIGV 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/130 AceView cDNA sequences (see all 130):

    BF222172 AI659888 CB305477 BF476029 CA306927 AK000484 AW968907 BG831593 
    BX357688 BU158406 AA262855 BG746359 CD370164 AA252931 BG831582 AI654923 
    NM_017837 AW612414 CR609465 BP382023 AA488402 CD251053 AA252888 AI472810 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PIGV expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTGGACTC
    PIGV Expression
    About this image
    See PIGV Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIGV

    SOURCE GeneReport for Unigene cluster: Hs.259605
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGV gene from 8/27 species (see all 27)    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 61.96(n)
    60.17(a)
      771632  XM_003642561.1  XP_003642609.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGV6
    --
    56(a)
    1 ↔ 1
    GL343488.1(112562-118405)
    zebrafish
    (Danio rerio)
    Actinopterygii pigv1 phosphatidylinositol glycan anchor biosynthesis, class more 55.37(n)
    52.72(a)
      100148642  NM_001200060.1  NP_001186989.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta veg1 vegetable 48.36(n)
    36.45(a)
      44057  NM_166202.2  NP_725630.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T09B4.11 Protein T09B4.1 45.97(n)
    29.78(a)
      172305  NM_059382.3  NP_491783.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G118801 phosphatidylinositol glycan, class V 46.34(n)
    35.51(a)
      837736  NM_101059.2  NP_172652.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g04987001 hypothetical protein 45.44(n)
    35.99(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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/198 NCBI SNPs in PIGV are shown (see all 198    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1390734161,2
    Cpathogenic25374755(+) CTGGGA/C/TAACTT 6 E A V mis11NA 4552
    rs358492471,2
    C--25365668(+) TTCTAG/AAATAG 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1151950641,2
    C,F--25365719(+) TGATAT/CTGTTT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs755489551,2
    F--25365720(+) GATATT/CGTTTC 1 -- us2k11Minor allele frequency- C:0.02EA 120
    rs115803371,2
    C,H--25365730(+) CTTGGT/GGATGT 1 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs115809521,2
    C,F,A,H--25367130(+) GGTAGA/GTAGAG 2 -- us2k18Minor allele frequency- G:0.01NS EA NA 708
    rs716367791,2
    C--25367219(+) GAATGT/CTTTTC 2 -- us2k14Minor allele frequency- C:0.07NA EA 244
    rs1134005081,2
    C--25367686(+) AGCTGA/CGGTTC 2 -- us2k1 ut511Minor allele frequency- C:0.01NA 120
    rs413036331,2
    --25368197(+) CAACTA/GCCCTA 2 -- int1 ut510--------
    rs2008732311,2
    C--25368351(+) ACATGA/CCAGCC 2 -- int1 ut510--------

    HapMap Linkage Disequilibrium report for PIGV (27113963 - 27124889 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PIGV: --
    Human Gene Mutation Database (HGMD): PIGV

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    PIGV for disorders           About GeneDecksing

    OMIM gene information: 610274    OMIM disorders: --

    UniProtKB/Swiss-Prot: PIGV_HUMAN, Q9NUD9
  • Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300]. It is
  • a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia,
    facial dysmorphism, and hypoplastic terminal phalanges

    8 diseases for PIGV:    About MalaCards
    mental retardation syndrome    hyperphosphatasia with mental retardation syndrome    intellectual disability    babesiosis
    hypophosphatasia    hypotonia    seizures    malaria

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

    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)
    About This Section

    PubMed articles for PIGV gene, integrated from 9 sources (see all 15):
    (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. (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. (2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Mechanism for release of alkaline phosphatase caused b y glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia men tal retardation syndrome. (PubMed id 22228761)1 Murakami Y....Kinoshita T. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. (PubMed id 21739589)1 Horn D....Meinecke P. (2011)
    10. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. (PubMed id 20578257)2 Thompson M.D.... Cole D.E. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 55650 HGNC: 26031 AceView: FLJ20477 Ensembl:ENSG00000060642 euGenes: HUgn55650
    ECgene: PIGV Kegg: 55650 H-InvDB: PIGV

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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