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

PIGQ Gene

protein-coding   GIFtS: 60
GCID: GC16P000616

Phosphatidylinositol Glycan Anchor Biosynthesis, Class Q

(Previous names: phosphatidylinositol glycan, class Q)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class Q1 2     c407A10.12
Phosphatidylinositol Glycan, Class Q1 2     C407A10.1 (GPI1 (N-Acetylglucosaminyl Transferase Component))2
Phosphatidylinositol-Glycan Biosynthesis Class Q Protein2 3     N-Acetylglucosaminyl Transferase Component Gpi12
GPI12 3     Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit Q2
PIG-Q2 3     EC 2.4.1.1983
N-Acetylglucosamyl Transferase Component GPI12 3     

External Ids:    HGNC: 141351   Entrez Gene: 90912   Ensembl: ENSG000000075417   OMIM: 6057545   UniProtKB: Q9BRB33   

Export aliases for PIGQ gene to outside databases

Previous GC identifers: GC16P000639 GC16P000560 GC16P000541 GC16P000617


(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 PIGQ Gene:
This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor
is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a
N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of
N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jun 2012)

GeneCards Summary for PIGQ Gene: 
PIGQ (phosphatidylinositol glycan anchor biosynthesis, class Q) is a protein-coding gene. Diseases associated with PIGQ include scrapie, and among its related super-pathways are Post-translational modification: synthesis of GPI-anchored proteins and Post-translational protein modification. GO annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot: PIGQ_HUMAN, Q9BRB3
Function: Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to
phosphatidylinositol, the first step of GPI biosynthesis

Gene Wiki entry for PIGQ 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIGQ gene promoter:
         ER-alpha   Pax-6   HSF1 (long)   LUN-1   HNF-3beta   AREB6   IRF-2   HSF1short   c-Myb   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGQ promoter sequence
   Search SABiosciences Chromatin IP Primers for PIGQ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGQ


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000616:  view genomic region     (about GC identifiers)

Start:
616,995 bp from pter      End:
634,136 bp from pter
Size:
17,142 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PIGQ_HUMAN, Q9BRB3 (See protein sequence)
Recommended Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q  
Size: 760 amino acids; 84082 Da
Subunit: Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A2IDE1 D3DU52 O14927 Q96G00 Q96S22 Q9UJH4
Alternative splicing: 3 isoforms:  Q9BRB3-1   Q9BRB3-2   Q9BRB3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGQ: NX_Q9BRB3

Explore proteomics data for PIGQ at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BRB3

  • PIGQ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PIGQ Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004195.2  NP_683721.1  

    ENSEMBL proteins: 
     ENSP00000293874   ENSP00000386760   ENSP00000386554   ENSP00000413753   ENSP00000326674  
     ENSP00000387820   ENSP00000026218   ENSP00000439650   ENSP00000410434   ENSP00000409341  
     ENSP00000439374  
    Reactome Protein details: Q9BRB3
    Human Recombinant Protein Products for PIGQ: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000506glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    PIGQ for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PIG: Phosphatidylinositol glycan anchor biosynthesis

    1 InterPro protein domain:
     IPR007720 GlcNAc_Gpi1

    Graphical View of Domain Structure for InterPro Entry Q9BRB3

    ProtoNet protein and cluster: Q9BRB3

    UniProtKB/Swiss-Prot: PIGQ_HUMAN, Q9BRB3
    Similarity: Belongs to the PIGQ family


    PIGQ for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIGQ_HUMAN, Q9BRB3
    Function: Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to
    phosphatidylinositol, the first step of GPI biosynthesis
    Catalytic activity: UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP +
    6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol

         Enzyme Number (IUBMB): EC 2.4.1.1981

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017176phosphatidylinositol N-acetylglucosaminyltransferase activity IEA--
         
    PIGQ for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PIGQ About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational modification: synthesis of GPI-anchored proteins0.79
    Synthesis of glycosylphosphatidylinositol (GPI)0.64
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for PIGQ
        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 PIGQ):
        Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PIGQ_HUMAN, Q9BRB3
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGQ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIGQ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/31 Interacting proteins for PIGQ (Q9BRB32, 3 ENSP000000262184) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157972, 3MINT-62013 I2D: score=3 
    PIGCQ925353, ENSP000002583244I2D: score=3 STRING: ENSP00000258324
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    PIGPP570543, ENSP000004200374I2D: score=1 STRING: ENSP00000420037
    PIGAP372873, ENSP000003698204I2D: score=3 STRING: ENSP00000369820
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS9729469
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process ----
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--

    PIGQ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIGQ

    10/898 HMDB Compounds for PIGQ (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 PIGQ

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PIGQ gene (2 alternative transcripts): 
    NM_004204.3  NM_148920.2  

    Unigene Cluster for PIGQ:

    Phosphatidylinositol glycan anchor biosynthesis, class Q
    Hs.744949  [show with all ESTs]
    Unigene Representative Sequence: NM_004204
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293874 ENST00000409527 ENST00000409439 ENST00000422307 ENST00000321878(uc010bqw.3 uc002chn.3 uc002cho.3 uc010uui.2)
    ENST00000439574 ENST00000026218 ENST00000470411(uc002chm.3) ENST00000443147
    ENST00000544860 ENST00000537901 ENST00000420990 ENST00000480424 ENST00000540241
    ENST00000476438(uc002chp.3) ENST00000540548
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    Additional mRNA sequence: 

    AB003723.1 AF030177.1 AK314361.1 BC006377.2 

    11 DOTS entries:

    DT.92429646  DT.444789  DT.100791479  DT.100791471  DT.100791478  DT.97855924  DT.95170514  DT.95081192 
    DT.100775014  DT.100791470  DT.40131829 

    24/182 AceView cDNA sequences (see all 182):

    BQ679190 BU738432 CD674991 CD674376 BC048340 NM_004204 AI061227 BQ940705 
    AU104954 AK093527 BI770953 NM_148920 AW452437 CA313364 AX748186 AU099270 
    BQ073528 CA488552 BQ889806 R41932 CB105661 BC006377 AI336130 BC032015 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PIGQ    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                                                                    -               
    SP4:                                                                                    


    ECgene alternative splicing isoforms for PIGQ

    (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

    PIGQ expression in normal human tissues (normalized intensities)      PIGQ embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCTCCCAG
    PIGQ Expression
    About this image


    PIGQ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Perivenous Hepatocytes Liver Lobule
             Liver Lobule
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See PIGQ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIGQ

    SOURCE GeneReport for Unigene cluster: Hs.744949
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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 animals and fungi.

    Orthologs for PIGQ gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigq1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 81.35(n)1
    83.65(a)1
      17 (13.01 cM)5
    147551  NM_011822.31  NP_035952.21 
     259264275 
    chicken
    (Gallus gallus)
    Aves PIGQ1 phosphatidylinositol glycan anchor biosynthesis, class more 71.84(n)
    71.9(a)
      770171  XM_001232059.2  XP_001232060.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGQ6
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL344333.1(5343-41546)
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3592 sbcb359 73.77(n)   321218  BC053210.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gpi13 GPI anchor biosynthesis 34(a)   14B18   --
    worm
    (Caenorhabditis elegans)
    Secernentea F01G4.51 Protein F01G4.5 43.73(n)
    34.86(a)
      178019  NM_069685.2  NP_502086.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPI1(YGR216C)4 Membrane protein involved in the synthesis of N-acetylglucosaminyl more   --   7(924462-922633) 853130  NP_011732.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIGQ gene

    PIGQ for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PIGQ
    PGOHUM00000244039


    (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) 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

    10/1187 SNPs in PIGQ are shown (see all 1187)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1459050621,2
    C--538504(+) TCCCC-/TGTCGG 2 -- int10--------
    rs1995313091,2
    C--538566(+) GAGGGA/C/TCCCGG 2 -- int10--------
    rs1112995581,2
    C--538833(+) TCCCCG/TGTCGG 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1161356321,2
    F--538902(+) CCTGTT/CGGTGA 2 -- int12Minor allele frequency- C:0.19WA EA 238
    rs1459256561,2
    C--538910(+) GAGGG-/TGCCCC 2 -- int10--------
    rs1439446161,2
    --538914(+) GGCCCC/TGGTCG 2 -- int10--------
    rs1488100911,2
    --538951(+) CGGTCA/GGTGAG 2 -- int10--------
    rs1440436621,2
    C--538964(+) GCCCCA/C/GGTCGG 2 -- int10--------
    rs1173957951,2
    F--539013(+) TCCCCG/TGTCGG 2 -- int11Minor allele frequency- T:0.19EA 120
    rs1485164581,2
    C--539026(+) AGGGTC/GCCCTG 2 -- int10--------

    HapMap Linkage Disequilibrium report for PIGQ (616995 - 634136 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for PIGQ (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2750209CNV Deletion23290073
    esv2750210CNV Deletion23290073
    esv1189330CNV Deletion17803354
    esv2750211CNV Deletion23290073
    esv2750208CNV Deletion23290073
    esv1003846CNV Deletion20482838
    esv2422427CNV Duplication17116639
    dgv2475n71CNV Loss21882294
    nsv904707CNV Loss21882294
    dgv2481n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605754    OMIM disorders: --

    2 diseases for PIGQ:    About MalaCards
    scrapie    


    PIGQ for disorders           About GeneDecksing

    Genetic Association Database (GAD): PIGQ
    Human Genome Epidemiology (HuGE) Navigator: PIGQ (2 documents)

    Export disorders for PIGQ 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 PIGQ gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with PIGQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants. (PubMed id 9729469)1, 2, 3, 9 Tiede A.... Schmidt R.E. (1998)
    2. The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. (PubMed id 9463366)1, 2, 3 Watanabe R....Kinoshita T. (1998)
    3. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PubMed id 10944123)1, 2, 9 Watanabe R.... Kinoshita T. (2000)
    4. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    7. 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)
    8. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    9. Novel genetic variants associated with lumbar disc deg eneration in northern Europeans: a meta-analysis of 4600 subjects. (PubMed id 22993228)1 Williams F.M....Spector T.D. (2013)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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)
    About This Section
    Entrez Gene: 9091 HGNC: 14135 AceView: PIGQandFLJ36208 Ensembl:ENSG00000007541 euGenes: HUgn9091
    ECgene: PIGQ Kegg: 9091 H-InvDB: PIGQ

    (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 PIGQ 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 PIGQ gene:
    Search GeneIP for patents involving PIGQ

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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