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

PIGH Gene

protein-coding   GIFtS: 56
GCID: GC14M068056

Phosphatidylinositol Glycan Anchor Biosynthesis, Class H

(Previous names: phosphatidylinositol glycan, class H)
  See 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)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class H1 2     GPI-H2
Phosphatidylinositol Glycan, Class H1 2     Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit H2
Phosphatidylinositol-Glycan Biosynthesis Class H Protein2 3     Phosphatidylinositol-Glycan Biosynthesis, Class H Protein2
PIG-H2 3     EC 2.4.1.1983
Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit1     

External Ids:    HGNC: 89641   Entrez Gene: 52832   Ensembl: ENSG000001005647   OMIM: 6001545   UniProtKB: Q144423   

Export aliases for PIGH gene to outside databases

Previous GC identifers: GC14M065561 GC14M061849 GC14M066046 GC14M067125 GC14M048225


(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 PIGH Gene:
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol
(GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor
proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl
(GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the
endoplasmic reticulum. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIGH Gene: 
PIGH (phosphatidylinositol glycan anchor biosynthesis, class H) is a protein-coding gene. Diseases associated with PIGH include paroxysmal nocturnal hemoglobinuria, and hemoglobinuria, 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 catalytic activity and phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot: PIGH_HUMAN, Q14442
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 PIGH 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_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIGH gene promoter:
         HOXA9   HOXA9B   NCX/Ncx   Pax-2   Pax-2a   Pax-2b   STAT3   Meis-1a   En-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGH promoter sequence
   Search SABiosciences Chromatin IP Primers for PIGH

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


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

Entrez Gene cytogenetic band: 14q24.1   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q24.1

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M068056:  view genomic region     (about GC identifiers)

Start:
68,048,672 bp from pter      End:
68,067,017 bp from pter
Size:
18,346 bases      Orientation:
minus 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: PIGH_HUMAN, Q14442 (See protein sequence)
Recommended Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit H  
Size: 188 amino acids; 21081 Da
Subunit: Associates with PIGA, PIGC, PIGP, PIGQ and DPM2. The latter is not essential for activity
Subcellular location: Cytoplasm
Secondary accessions: B2RAA4

Explore the universe of human proteins at neXtProt for PIGH: NX_Q14442

Explore proteomics data for PIGH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14442

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

    PIGH Protein Expression
    REFSEQ proteins: NP_004560.1  
    ENSEMBL proteins: 
     ENSP00000453759   ENSP00000216452   ENSP00000452816   ENSP00000453394   ENSP00000453158  
     ENSP00000452924   ENSP00000452974   ENSP00000454061   ENSP00000453733   ENSP00000452996  
    Reactome Protein details: Q14442
    Human Recombinant Protein Products for PIGH: 
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    Novus Biologicals PIGH Proteins
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    Cloud-Clone Corp. Proteins for PIGH 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000506glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA10944123
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--

    PIGH 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:
     IPR019328 GPI-GlcNAc_Trfase_PIG-H_dom

    Graphical View of Domain Structure for InterPro Entry Q14442

    ProtoNet protein and cluster: Q14442

    UniProtKB/Swiss-Prot: PIGH_HUMAN, Q14442
    Similarity: Belongs to the PIGH family


    PIGH 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: PIGH_HUMAN, Q14442
    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

         Genatlas biochemistry entry for PIGH:
    glycosyl-phosphatidylinositol (GPI) anchor synthesis,class H

         Enzyme Number (IUBMB): EC 2.4.1.1981

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS8900170
    GO:0017176phosphatidylinositol N-acetylglucosaminyltransferase activity IEA--
         
    PIGH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PIGH:
     Decreased Tat-dependent transc 

         1 MGI phenotypic allele for Pigh (no phenotypes)

    PIGH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PIGH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PIGH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIGH 
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    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PIGH (see all 11):
    hsa-miR-7 hsa-miR-646 hsa-miR-3922-3p hsa-miR-135b hsa-miR-2116* hsa-miR-802 hsa-miR-3176 hsa-miR-892a
    SwitchGear 3'UTR luciferase reporter plasmidPIGH 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGH


    (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 PIGH 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 PIGH
        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 PIGH):
        Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PIGH_HUMAN, Q14442
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIGH

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

    5/8 Interacting proteins for PIGH (Q144423 ENSP000002164524) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGQQ9BRB33, ENSP000000262184I2D: score=3 STRING: ENSP00000026218
    PIGAP372873, ENSP000003698204I2D: score=3 STRING: ENSP00000369820
    DPM2ENSP000003221814STRING: ENSP00000322181
    PIGCENSP000002583244STRING: ENSP00000258324
    PIGLENSP000002256094STRING: ENSP00000225609
    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:0006464cellular protein modification process TAS8900170
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process TAS8900170
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--

    PIGH 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

    PIGH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIGH

    10/898 HMDB Compounds for PIGH (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--

    3 Novoseek inferred chemical compound relationships for PIGH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylglucosamine 79 1 8806613 (1)
    udp-n-acetylglucosamine 78.6 1 8806613 (1)
    phosphatidylinositol 65.9 2 8806613 (1), 8900170 (1)

    Search CenterWatch for drugs/clinical trials and news about PIGH

    (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 PIGH gene: 
    NM_004569.3  

    Unigene Cluster for PIGH:

    Phosphatidylinositol glycan anchor biosynthesis, class H
    Hs.553497  [show with all ESTs]
    Unigene Representative Sequence: NM_004569
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561272 ENST00000216452(uc001xjr.1) ENST00000558987 ENST00000559118
    ENST00000560722 ENST00000558493 ENST00000558198 ENST00000561303 ENST00000558001
    ENST00000559581 ENST00000559415 ENST00000559097(uc010tsy.1)
    miRNA
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    hsa-miR-7 hsa-miR-646 hsa-miR-3922-3p hsa-miR-135b hsa-miR-2116* hsa-miR-802 hsa-miR-3176 hsa-miR-892a
    SwitchGear 3'UTR luciferase reporter plasmidPIGH 3' UTR sequence
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    Additional mRNA sequence: 

    AK293584.1 AK314108.1 BC004100.2 BC071849.1 BT006804.1 L19783.1 

    11 DOTS entries:

    DT.95161816  DT.447626  DT.100785747  DT.86821098  DT.75176454  DT.99928760  DT.100785745  DT.100785746 
    DT.95271597  DT.97836072  DT.101983119 

    24/185 AceView cDNA sequences (see all 185):

    BM670658 AA909682 BE501846 BP354216 BE463542 AA394196 BX281998 AI337017 
    AI492843 AI332729 BC071849 AA441967 AW301585 AA613637 BE744584 BF739762 
    BM711152 CR605373 BU782713 AW629157 BM981317 AA846165 BQ950619 AW268894 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PIGH    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for PIGH

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.553497
        SABiosciences Custom PCR Arrays for PIGH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGH

    (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 chordates.

    Orthologs for PIGH gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigh1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 87.34(n)1
    88.77(a)1
      12 (35.51 cM)5
    1104171  NM_029988.21  NP_084264.11 
     790806735 
    chicken
    (Gallus gallus)
    Aves PIGH1 phosphatidylinositol glycan anchor biosynthesis, class more 70.27(n)
    71.35(a)
      423271  NM_001199701.1  NP_001186630.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGH6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL343272.1(978740-985865)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.142102 Xenopus laevis transcribed sequence with weak similarity more 73.83(n)    BJ058220.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pigh1 phosphatidylinositol glycan anchor biosynthesis, class more 61.69(n)
    59.12(a)
      436838  NM_001002565.1  NP_001002565.1 


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

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

    PIGH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PIGH
    PGOHUM00000247136


    (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

    10/304 SNPs in PIGH are shown (see all 304)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1999097481,2
    --68056867(+) TCAAGC/GAGTCC 2 S C mis10--------
    rs65737851,2
    C,F,A,H--68056914(+) AATGCG/AGAGTC 1 -- int122Minor allele frequency- A:0.09NS EA NA WA 2482
    rs341860991,2
    C--68056966(+) GCAAA-/TTTTTT 1 -- int10--------
    rs348704061,2
    C--68056967(+) GCAAA-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA 4
    rs80105741,2
    C,F--68057031(+) GTGGCG/ACAATC 1 -- int14Minor allele frequency- A:0.38NA CSA 8
    rs790301341,2
    C--68057113(+) TACAGG/TTGCTC 1 -- int10--------
    rs1847041841,2
    --68057222(+) AGGCAC/TGAACC 1 -- int10--------
    rs1891517531,2
    --68057244(+) CTAATC/TTTTGT 1 -- int10--------
    rs1404248361,2
    C--68057346(+) GCTGGA/GATTAC 1 -- int10--------
    rs1815809281,2
    --68057398(+) TCTCAC/TCCACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PIGH (68048672 - 68067017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PIGH:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv138n21CNV Loss19592680
    nsv470651CNV Gain18288195
    nsv902066CNV Gain21882294
    nsv456331CNV Gain19166990

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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: 600154    OMIM disorders: --

    2 diseases for PIGH:    About MalaCards
    paroxysmal nocturnal hemoglobinuria    hemoglobinuria


    PIGH for disorders           About GeneDecksing

    Genetic Association Database (GAD): PIGH
    Human Genome Epidemiology (HuGE) Navigator: PIGH (1 document)

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

    1. Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria. (PubMed id 8204896)1, 3, 9 Ware R.E....Seldin M.F. (1994)
    2. 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)
    3. 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 Watanabe R....Kinoshita T. (1998)
    4. Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone. (PubMed id 8407896)1, 2 Kamitani T.... Yeh E.T. (1993)
    5. PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum. (PubMed id 8900170)1, 9 Watanabe R....Inoue N. (1996)
    6. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PubMed id 10944123)1, 9 Watanabe R.... Kinoshita T. (2000)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Identification of VKORC1 interaction partners by spli t-ubiquitin system and coimmunoprecipitation. (PubMed id 21103663)1 Schaafhausen A....MA1ller C.R. (2011)
    9. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5283 HGNC: 8964 AceView: PIGH Ensembl:ENSG00000100564 euGenes: HUgn5283
    ECgene: PIGH Kegg: 5283 H-InvDB: PIGH

    (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 PIGH Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_557

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

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



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