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

PIGK Gene

protein-coding   GIFtS: 64
GCID: GC01M077554

Phosphatidylinositol Glycan Anchor Biosynthesis, Class K

(Previous names: phosphatidylinositol glycan, class K)
  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 K1 2     GPI8 Homolog2 3
GPI82 3 5     GPI-Anchor Transamidase2
Phosphatidylinositol Glycan, Class K1 2     EC 3.-.-.-3
GPI Transamidase Subunit1 2     GPI Transamidase3
Phosphatidylinositol-Glycan Biosynthesis Class K Protein2 3     hGPI83
PIG-K2 3     

External Ids:    HGNC: 89651   Entrez Gene: 100262   Ensembl: ENSG000001428927   OMIM: 6050875   UniProtKB: Q926433   

Export aliases for PIGK gene to outside databases

Previous GC identifers: GC01M077684 GC01M076501 GC01M076962 GC01M076979 GC01M076977 GC01M077269 GC01M075685


(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 PIGK Gene:
This gene encodes a member of the cysteine protease family C13 that is involved 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 protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be
its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the
transfer of fully assembled GPI units to proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIGK Gene: 
PIGK (phosphatidylinositol glycan anchor biosynthesis, class K) is a protein-coding gene. Diseases associated with PIGK include fungal meningitis, and sleeping sickness, 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 cysteine-type endopeptidase activity and GPI anchor binding. An important paralog of this gene is LGMN.

UniProtKB/Swiss-Prot: GPI8_HUMAN, Q92643
Function: Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment
signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a
carbonyl intermediate with the substrate protein

Gene Wiki entry for PIGK 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_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIGK gene promoter:
         HFH-3   Spz1   Sp1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   YY1   RORalpha1   FOXI1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGK promoter sequence
   Search SABiosciences Chromatin IP Primers for PIGK

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


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

Entrez Gene cytogenetic band: 1p31.1   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M077554:  view genomic region     (about GC identifiers)

Start:
77,554,666 bp from pter      End:
77,685,132 bp from pter
Size:
130,467 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: GPI8_HUMAN, Q92643 (See protein sequence)
Recommended Name: GPI-anchor transamidase precursor  
Size: 395 amino acids; 45252 Da
Subunit: Forms a complex with PIGT, PIGS, PIGU and GAA1
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein
Secondary accessions: B2R7K3 O14822 Q5TG77

Explore the universe of human proteins at neXtProt for PIGK: NX_Q92643

Explore proteomics data for PIGK at MOPED 

Post-translational modifications:

  • UniProtKB: The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92643

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

    PIGK Protein Expression
    REFSEQ proteins: NP_005473.1  
    ENSEMBL proteins: 
     ENSP00000359848   ENSP00000388854   ENSP00000474518   ENSP00000352041   ENSP00000359849  
    Reactome Protein details: Q92643
    Human Recombinant Protein Products for PIGK: 
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    Cloud-Clone Corp. Proteins for PIGK 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0030176integral to endoplasmic reticulum membrane NAS11483512
    GO:0042765GPI-anchor transamidase complex IMP10793132

    PIGK 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:
     IPR001096 Peptidase_C13

    Graphical View of Domain Structure for InterPro Entry Q92643

    ProtoNet protein and cluster: Q92643

    1 Blocks protein domain: IPB001096 Hemoglobinase (C13) cysteine protease signature

    UniProtKB/Swiss-Prot: GPI8_HUMAN, Q92643
    Similarity: Belongs to the peptidase C13 family


    PIGK 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: GPI8_HUMAN, Q92643
    Function: Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment
    signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a
    carbonyl intermediate with the substrate protein

         Genatlas biochemistry entry for PIGK:
    phosphatidylinositol glycan,class K,mutated in K562 cell line,yeast GPI8 homolog,association with GPAA1 for GPI
    anchor attachment

         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity TAS12582175
    GO:0003923GPI-anchor transamidase activity TAS--
    GO:0004197cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI10793132
    GO:0034235contributes to GPI anchor binding TAS10793132
         
    PIGK for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PIGK:
     Decreased p24 protein expressi 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidPIGK 3' UTR sequence
    Inhib. RNA
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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 PIGK 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
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40
    4Attachment of GPI anchor to uPAR
    Attachment of GPI anchor to uPAR

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for PIGK
        Attachment of GPI anchor to uPAR
    Metabolism of proteins
    Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational protein modification


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

    UniProtKB/Swiss-Prot: GPI8_HUMAN, Q92643
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIGK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/78 Interacting proteins for PIGK (Q926432, 3 ENSP000003598484) via UniProtKB, MINT, STRING, and/or I2D (see all 78)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALPPP051872, 3, ENSP000003758814MINT-8216721 I2D: score=3 STRING: ENSP00000375881
    ENSG00000206288Q925043I2D: score=1 
    ENSG00000224399Q925043I2D: score=1 
    ENSG00000226614Q925043I2D: score=1 
    ENSG00000227402Q925043I2D: score=1 
    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:0006457protein folding TAS12582175
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006508proteolysis IEA--
    GO:0016255attachment of GPI anchor to protein TAS11483512
    GO:0043687post-translational protein modification TAS--

    PIGK 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

    PIGK for compounds           About GeneDecksing

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

    Browse Tocris compounds for PIGK (GPI8)

    10/519 HMDB Compounds for PIGK (see all 519)    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--

    1 Novoseek inferred chemical compound relationship for PIGK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 6.54 1 12802054 (1)

    Search CenterWatch for drugs/clinical trials and news about PIGK / GPI8

    (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 PIGK gene: 
    NM_005482.2  

    Unigene Cluster for PIGK:

    Phosphatidylinositol glycan anchor biosynthesis, class K
    Hs.178305  [show with all ESTs]
    Unigene Representative Sequence: NM_005482
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370812(uc001dhk.3 uc010orj.2) ENST00000445065(uc009wbx.3)
    ENST00000487906 ENST00000359130(uc001dhl.1) ENST00000478391 ENST00000370813

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    Additional mRNA sequence: 

    AF022913.1 AK055071.1 AK304340.1 AK313015.1 BC020737.1 BX648473.1 Y07596.1 

    15 DOTS entries:

    DT.212890  DT.412841  DT.100768228  DT.100028580  DT.121365816  DT.100776627  DT.100748896  DT.95374692 
    DT.95374694  DT.121365796  DT.121365811  DT.40313624  DT.95374693  DT.91774023  DT.91774034 

    24/230 AceView cDNA sequences (see all 230):

    AI559559 AK055071 AA449378 F12669 AI983193 BU742217 BM693241 AW628276 
    AA428977 CR594196 F10280 AA719665 CB156139 AI245742 NM_005482 BM741888 
    AI539700 AW612942 BM728438 AA994078 BC020737 BU629350 CR614831 AA464095 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PIGK    About this scheme

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


    ECgene alternative splicing isoforms for PIGK

    (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

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


    PIGK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Epithelium
             bronchial epithelial cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.178305
        SABiosciences Custom PCR Arrays for PIGK
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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 PIGK gene from 10/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigk1 , 5 phosphatidylinositol glycan anchor biosynthesis, class K less1, 5 83.8(n)1
    91.39(a)1
      3 (77.16 cM)5
    3297771  NM_025662.51  NP_079938.11 
     1527141005 
    chicken
    (Gallus gallus)
    Aves PIGK1 phosphatidylinositol glycan anchor biosynthesis, class K less 80.44(n)
    87.24(a)
      424556  NM_001031278.1  NP_001026449.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGK6
    PIGK6
    Uncharacterized protein
    phosphatidylinositol glycan anchor biosynthesis, c...
    70(a)
    64(a)
    possible ortholog
    1 ↔ 1
    AAWZ02038094(251-5387)
    GL343194.1(4354062-4361651)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.67462 Xenopus laevis transcribed sequence with weak similarity to protein spQ99538 (H.sapiens) LEGU_HUMAN Legumain precursor (Asparaginyl endopeptidase) less 80(n)    BX846807.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pigk1 phosphatidylinositol glycan, class K 70.91(n)
    81.3(a)
      415239  NM_001002149.1  NP_001002149.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:133E12.33
    CG44061
    GPI-anchor transamidase3
    CG44061
    62(a)3
    58.56(n)1
    59.64(a)1
      2C13
    311631  NM_130612.31  NP_569968.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T05E11.63
    hpo-41
    haemoglobinase like3
    Protein HPO-41
    55(a)3
    59(n)1
    56.1(a)1
      IV(11108824-11110243)3
    1881311  NM_069675.21  NP_502076.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPI8(YDR331W)4
    GPI81
    ER membrane glycoprotein subunit of the glycosylphosphatidylinositol transamidase complex that adds glycosylphosphatidylinositol (GPI) anchors to newly synthesized proteins; human PIG-K protein is a functional homolog less4
    Gpi8p1
    61.71(n)1
    60.59(a)1
      4(1129588-1130823)4
    8519311, 4  NP_010618.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G087501 peptidase C13-like protein 57.86(n)
    54.72(a)
      837397  NM_179285.1  NP_849616.1 
    rice
    (Oryza sativa)
    Liliopsida Os.242852 Oryza sativa (japonica cultivar-group) cDNA cloneJ023126A08, full insert sequence less 75.55(n)    AK072526.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIGK gene
    LGMN2  

    PIGK for paralogs           About GeneDecksing



    (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

    10/2411 SNPs in PIGK are shown (see all 2411)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1832628681,2
    --77554206(+) CGGAGG/TTTCAC 1 -- ds50010--------
    rs1886182781,2
    --77554403(+) CCATGC/GCCAGC 1 -- ds50010--------
    rs111622691,2
    C,F,H--77554453(+) CCTAAG/AAAAGT 1 -- ds50019Minor allele frequency- A:0.25NS EA NA WA 778
    rs1997151,2
    C,F,O,A--77554542(+) GGGTCG/ATATCA 1 -- ds500115Minor allele frequency- A:0.49NA WA CSA EA 516
    rs1919449441,2
    --77554549(+) ATCATA/GTGATT 1 -- ds50010--------
    rs170998821,2
    C,F,H--77554641(+) TGCAGG/ATGACA 1 -- ds500120Minor allele frequency- A:0.07NA NS EA CSA WA 2377
    rs760449751,2
    C--77554647(+) TGACAA/CAAGAA 1 -- ds50010--------
    rs170998851,2
    C,F,H--77554775(+) TTCACA/GGCACA 1 -- ut3119Minor allele frequency- G:0.07NA NS EA WA 2382
    rs1157283011,2
    C--77555034(+) TCATTG/TTTTTA 1 -- ut310--------
    rs1833193081,2
    --77555058(+) TGGTAA/TGTTTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PIGK (77554666 - 77685132 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PIGK:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv271271CNV Insertion20981092
    esv2500895CNV Insertion19546169
    esv273566CNV Insertion20981092
    esv271361CNV Insertion20981092
    esv272308CNV Insertion20981092
    nsv525188CNV Loss19592680
    nsv520629CNV Loss19592680
    nsv830292CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PIGK
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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: 605087    OMIM disorders: --

    3 diseases for PIGK:    About MalaCards
    fungal meningitis    sleeping sickness    meningitis


    PIGK for disorders           About GeneDecksing

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

    Export disorders for PIGK 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 PIGK gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with PIGK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase. (PubMed id 9356492)1, 2, 3, 9 Yu J.... Medof M.E. (1997)
    2. Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PubMed id 12582175)1, 2, 9 Ohishi K.... Kinoshita T. (2003)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. (PubMed id 11483512)1, 2 Ohishi K.... Kinoshita T. (2001)
    7. Gaa1p and gpi8p are components of a glycosylphosphatidylinositol (GPI) transamidase that mediates attachment of GPI to proteins. (PubMed id 10793132)1, 2 Ohishi K.... Kinoshita T. (2000)
    8. Yeast Gpi8p is essential for GPI anchor attachment onto proteins. (PubMed id 8978684)1, 2 Benghezal M.... Conzelmann A. (1996)
    9. Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. (PubMed id 12802054)1, 9 Hong Y.... Kinoshita T. (2003)
    10. Proprotein interaction with the GPI transamidase. (PubMed id 12616539)1, 9 Chen R....Medof M.E. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10026 HGNC: 8965 AceView: PIGK Ensembl:ENSG00000142892 euGenes: HUgn10026
    ECgene: PIGK Kegg: 10026 H-InvDB: PIGK

    (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 PIGK 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 PIGK gene:
    Search GeneIP for patents involving PIGK

    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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