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PIGT Gene

protein-coding   GIFtS: 57
GCID: GC20P044044

Phosphatidylinositol Glycan Anchor Biosynthesis, Class T

(Previous names: phosphatidylinositol glycan, class T)
  See PIGT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class T1 2     PNH22 5
GPI Transamidase Subunit1 2     Phosphatidylinositol Glycan, Class T1
Phosphatidylinositol-Glycan Biosynthesis Class T Protein2 3     GPI Transamidase Component PIG-T2
MCAHS32 5     Neurotrophin-Regulated Neuronal Development-Associated Protein2
NDAP2 5     

External Ids:    HGNC: 149381   Entrez Gene: 516042   Ensembl: ENSG000001241557   OMIM: 6102725   UniProtKB: Q969N23   

Export aliases for PIGT gene to outside databases

Previous GC identifers: GC20P043773 GC20P044683 GC20P044730 GC20P043478 GC20P040786


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PIGT Gene:
This gene encodes a protein 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 an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI
anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, May 2012)

GeneCards Summary for PIGT Gene:
PIGT (phosphatidylinositol glycan anchor biosynthesis, class T) is a protein-coding gene. Diseases associated with PIGT include multiple congenital anomalies-hypotonia-seizures syndrome 3, and paroxysmal nocturnal hemoglobinuria 2. GO annotations related to this gene include GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2
Function: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for
formation of carbonyl intermediates

Gene Wiki entry for PIGT Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGT gene promoter:
         AML1a   ATF-2   Lmo2   Nkx2-5   STAT5A   GATA-1   CRE-BP1   MZF-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGT promoter sequence
   Search Chromatin IP Primers for PIGT

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


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

Entrez Gene cytogenetic band: 20q12-q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q12-q13.12

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044044:  view genomic region     (about GC identifiers)

Start:
44,044,707 bp from pter      End:
44,054,884 bp from pter
Size:
10,178 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2 (See protein sequence)
Recommended Name: GPI transamidase component PIG-T precursor  
Size: 578 amino acids; 65700 Da
Subunit: Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex
by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS
Sequence caution: Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Sequence=AAQ88951.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAB57341.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B2RND5 B7Z3N1 B7Z7I8 E1P622 G8JLF5 Q2NL69 Q7Z3N7 Q9BQY7 Q9BQY8 Q9UJG6
Q9Y2Z5
Alternative splicing: 6 isoforms:  Q969N2-1   Q969N2-2   Q969N2-3   Q969N2-4   Q969N2-5   Q969N2-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGT: NX_Q969N2

Explore proteomics data for PIGT at MOPED

Post-translational modifications: 

  • The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity1
  • Ubiquitination2 at Lys337, Lys339, Lys365
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001171657.1  NP_001171658.1  NP_001171659.1  NP_057021.2  

    ENSEMBL proteins: 
     ENSP00000279036   ENSP00000279035   ENSP00000361774   ENSP00000407574   ENSP00000441577  
     ENSP00000408354   ENSP00000343783   ENSP00000440528   ENSP00000443963  
    Reactome Protein details: Q969N2

    PIGT Human Recombinant Protein Products:

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    Novus Biologicals PIGT Proteins
    Novus Biologicals PIGT Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIGT

     
    Search eBioscience for Proteins for PIGT 

     
    antibodies-online proteins for PIGT (4 products) 

     
    antibodies-online peptides for PIGT

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    antibodies-online antibodies for PIGT (21 products) 

    PIGT Assay Products:

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    antibodies-online kits for PIGT (4 products) 


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

    1 InterPro protein domain:
     IPR007245 PIG-T

    Graphical View of Domain Structure for InterPro Entry Q969N2

    ProtoNet protein and cluster: Q969N2

    UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2
    Similarity: Belongs to the PIGT family


    Find genes that share domains with PIGT           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: PIGT_HUMAN, Q969N2
    Function: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for
    formation of carbonyl intermediates

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003923contributes to GPI-anchor transamidase activity TAS11483512
    GO:0005515protein binding IPI11483512
         
    Find genes that share ontologies with PIGT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PIGT:
     Upregulation of Wnt/beta-caten 

         1 MGI phenotypic allele for Pigt (no phenotypes)

    Find genes that share phenotypes with PIGT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pigttm1Lex for PIGT

       genOway: Develop your customized and physiologically relevant rodent model for PIGT

    miRNA
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    miRTarBase miRNAs that target PIGT:
    hsa-mir-1 (MIRT023683), hsa-mir-34a-5p (MIRT047380), hsa-mir-26a-5p (MIRT050113)

    Block miRNA regulation of human, mouse, rat PIGT using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PIGT:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidPIGT 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PIGT

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): PIGT (NM_015937)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGT

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PIGT_HUMAN, Q969N2: Endoplasmic reticulum membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    lysosome3
    extracellular2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030176integral component of endoplasmic reticulum membrane NAS12052837
    GO:0042765GPI-anchor transamidase complex TAS15713669

    Find genes that share ontologies with PIGT           About GenesLikeMe


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

    SuperPathContained pathways About
    1Post-translational modification- synthesis of GPI-anchored proteins
    Post-translational modification- synthesis of GPI-anchored proteins0.76
    Attachment of GPI anchor to uPAR0.00
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.76
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with PIGT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PIGT
        Attachment of GPI anchor to uPAR


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

    UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

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

        GeneGlobe Interaction Network for PIGT

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

    Selected Interacting proteins for PIGT (Q969N22, 3 ENSP000002790364) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF3AQ9H1J12, 3, ENSP000003644484MINT-65103 I2D: score=4 STRING: ENSP00000364448
    PIGKQ926433, ENSP000003598484I2D: score=6 STRING: ENSP00000359848
    ARF1P840773, ENSP000002721024I2D: score=3 STRING: ENSP00000272102
    GPAA1O432923, ENSP000003472064I2D: score=6 STRING: ENSP00000347206
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006501C-terminal protein lipidation TAS--
    GO:0016255attachment of GPI anchor to protein TAS11483512
    GO:0030182neuron differentiation IEA--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with PIGT           About GenesLikeMe



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

    Browse Tocris compounds for PIGT

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



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PIGT gene (4 alternative transcripts): 
    NM_001184728.2  NM_001184729.2  NM_001184730.2  NM_015937.5  

    Unigene Cluster for PIGT:

    Phosphatidylinositol glycan anchor biosynthesis, class T
    Hs.437388  [show with all ESTs]
    Unigene Representative Sequence: NM_015937
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000279036(uc010ghd.2 uc010ghc.2 uc010ghe.2 uc010ghf.2 uc002xoh.2 uc010zwu.2 uc002xoi.2 uc010zwv.2 uc010zwx.2 uc010zxa.2)
    ENST00000279035(uc010zwz.2 uc010zwy.2 uc010zxb.1) ENST00000372689(uc010ghb.2 uc010zwt.2 uc002xoj.2 uc002xol.1)
    ENST00000455050 ENST00000543458(uc010zww.2) ENST00000432270 ENST00000341555
    ENST00000535404 ENST00000545755
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate PIGT:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidPIGT 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat PIGT

    Additional mRNA sequence: 

    AB057724.1 AF058295.1 AF132940.1 AK075469.1 AK225517.1 AK293294.1 AK293686.1 AK296063.1 
    AK296139.1 AK297830.1 AK299013.1 AK301815.1 AK302093.1 AK311100.1 AK311416.1 AK311492.1 
    AK311520.1 AK311522.1 AK316358.1 AL121742.1 AY358588.1 BC015022.1 BC110892.1 BC136827.1 
    BC136828.1 NR_047691.1 NR_047692.1 NR_047693.1 NR_047694.1 NR_047695.1 

    Selected DOTS entries (see all 29):

    DT.453818  DT.95172646  DT.101985299  DT.100680828  DT.100845646  DT.86851993  DT.100682608  DT.120801350 
    DT.120801361  DT.91761261  DT.100845654  DT.437588  DT.120801311  DT.120801353  DT.95172643  DT.100845640 
    DT.120801316  DT.95172644  DT.100038793  DT.120801281  DT.91761257  DT.91761260  DT.100845643  DT.101985298 

    Selected AceView cDNA sequences (see all 600):

    BQ691544 BE304395 BM837684 BC015022 CA418025 BU179558 AW510421 BM754691 
    CR604599 AI754894 CR605919 BP353526 BM127613 BI759752 BI909584 AI432547 
    BU856495 AI613194 CR602801 BE298820 BE781323 BQ706734 CA453971 CF131943 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGT (see all 22)    About this scheme

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

    ExUns: 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PIGT

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


    PIGT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    PIGT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437388
        Custom PCR Arrays for PIGT
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGT gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigt1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 88.31(n)1
    95.14(a)1
      2 (85.17 cM)5
    789281  NM_133779.21  NP_598540.21 
     1644975205 
    chicken
    (Gallus gallus)
    Aves PIGT1 phosphatidylinositol glycan anchor biosynthesis, class more 74.46(n)
    77.72(a)
      419179  XM_004947019.1  XP_004947076.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGT6
    phosphatidylinositol glycan anchor biosynthesis, c...
    77(a)
    1 ↔ 1
    GL343291.1(1585901-1598304)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA980888.12   -- 75.41(n)    CA980888.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pigt1 phosphatidylinositol glycan anchor biosynthesis, class more 67.82(n)
    69.64(a)
      556667  XM_679516.5  XP_684608.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111901 CG11190 50.72(n)
    40(a)
      31772  NM_132247.4  NP_572475.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F17C11.76
    Protein F17C11.7, isoform b (F17C11.7) mRNA, compl...
    26(a)
    1 ↔ 1
    V(10956821-10958821) WBGene00008918
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPI16(YHR188C)4
    GPI161
    Transmembrane protein subunit of the glycosylphosphatidylinositol more4
    GPI161
    46.78(n)1
    39.37(a)1
      8(483837-482005)4
    8565951, 4  NP_012058.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G071401 AT3G07140 46.69(n)
    38.75(a)
      819900  NM_111594.3  NP_566299.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g04792321 Os11g0479232 45.07(n)
    36.31(a)
      9271607  NM_001189609.1  NP_001176538.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIGT (see all 398)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0704484
    Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)4--see VAR_0704482 T P mis40--------
    rs1389295071,2
    --44042740(+) TCTACA/GTTTAC 9 -- us2k10--------
    rs72634771,2
    C,F--44042802(+) ATTCCA/TTATCC 9 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1927919571,2
    C--44042806(+) CATATC/TCTACA 9 -- us2k10--------
    rs2001923421,2
    C--44042867(+) TTATA-/AAATGA 9 -- us2k10--------
    rs1429398441,2
    --44042953(+) GACATC/TTAAGC 9 -- us2k10--------
    rs1470072661,2
    --44043008(+) GAATGC/TAGGCA 9 -- us2k10--------
    rs1825519431,2
    --44043130(+) TAGAAC/GTGTGG 9 -- us2k10--------
    rs1387394631,2
    --44043133(+) AAGTGG/TGGTCA 9 -- us2k10--------
    rs22512121,2
    C,F,H--44043228(+) ACTTTG/AGAACT 9 -- us2k120Minor allele frequency- A:0.19NS EA NA WA CSA 2346

    HapMap Linkage Disequilibrium report for PIGT (44044707 - 44054884 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PIGT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912892CNV Loss21882294

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610272   
    OMIM disorders: 615399  615398  
    UniProtKB/Swiss-Prot: PIGT_HUMAN, Q969N2
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive
    syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in
    combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as
    abnormal motility of the eyes. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A disorder characterized by hemolytic anemia
    with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown
    with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 3 diseases for PIGT:    
    About MalaCards
    multiple congenital anomalies-hypotonia-seizures syndrome 3    paroxysmal nocturnal hemoglobinuria 2    paroxysmal nocturnal hemoglobinuria


    Find genes that share disorders with PIGT           About GenesLikeMe


    Export disorders for PIGT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIGT gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with PIGT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Biol. Chem. 2003)
    2. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (PubMed id 23636107)1, 2 Kvarnung M....Nordgren A. (J. Med. Genet. 2013)
    3. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (PubMed id 23733340)1, 2 Krawitz P.M....Schrezenmeier H. (Blood 2013)
    4. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    5. Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. (PubMed id 15713669)1, 3 Vainauskas S. and Menon A.K. (J. Biol. Chem. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. 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. (EMBO J. 2001)
    10. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51604 HGNC: 14938 AceView: PIGT Ensembl:ENSG00000124155 euGenes: HUgn51604
    ECgene: PIGT Kegg: 51604 H-InvDB: PIGT

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

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

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



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