Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PIGM Gene

protein-coding   GIFtS: 53
GCID: GC01M159997

Phosphatidylinositol Glycan Anchor Biosynthesis, Class M

(Previous names: phosphatidylinositol glycan, class M)
  See PIGM-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

TryGeneCards Plus

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class M1 2     GPI Mannosyltransferase I2 3
Dol-P-Man Dependent GPI Mannosyltransferase1 2     Phosphatidylinositol Glycan, Class M1
DPM:GlcN-(Acyl-)PI Mannosyltransferase1 2     PIG-M Mannosyltransferase2
GPI Mannosyltransferase 11 2     EC 2.4.1.-3
Phosphatidylinositol-Glycan Biosynthesis Class M Protein2 3     PIG-M3
GPI-MT-I2 3     EC 2.4.18

External Ids:    HGNC: 188581   Entrez Gene: 931832   Ensembl: ENSG000001433157   OMIM: 6102735   UniProtKB: Q9H3S53   

Export aliases for PIGM gene to outside databases

Previous GC identifers: GC01M157791 GC01M155731 GC01M156777 GC01M157216 GC01M156812 GC01M158261 GC01M131354


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

TryGeneCards Plus

Entrez Gene summary for PIGM Gene:
This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in
GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three
mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins
to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI
on the lumenal side of the endoplasmic reticulum. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIGM Gene:
PIGM (phosphatidylinositol glycan anchor biosynthesis, class M) is a protein-coding gene. Diseases associated with PIGM include glycosylphosphatidylinositol deficiency. GO annotations related to this gene include mannosyltransferase activity.

UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5
Function: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first
alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGM gene promoter:
         HOXA9B   HOXA9   NRSF form 1   Nkx2-5   NRSF form 2   c-Rel   Nkx6-1   Ik-2   Cart-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGM promoter sequence
   Search Chromatin IP Primers for PIGM

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


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

Entrez Gene cytogenetic band: 1q23.2   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q23.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M159997:  view genomic region     (about GC identifiers)

Start:
159,997,462 bp from pter      End:
160,001,783 bp from pter
Size:
4,322 bases      Orientation:
minus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5 (See protein sequence)
Recommended Name: GPI mannosyltransferase 1  
Size: 423 amino acids; 49460 Da

Explore the universe of human proteins at neXtProt for PIGM: NX_Q9H3S5

Explore proteomics data for PIGM at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIGM (Q9H3S5) (see all 13)
     FVTFNKV  FCCFLHT  VCTSQYF  VHMKIYP 


    See PIGM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660150.1  
    ENSEMBL proteins: 
     ENSP00000357069  
    Reactome Protein details: Q9H3S5

    PIGM Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PIGM
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PIGM
    GenScript Custom Purified and Recombinant Proteins Services for PIGM
    Novus Biologicals PIGM Protein
    Novus Biologicals PIGM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIGM

     
    Search eBioscience for Proteins for PIGM 

     
    antibodies-online proteins for PIGM (2 products) 

     
    antibodies-online peptides for PIGM

    PIGM Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PIGM
    Novus Biologicals PIGM Antibodies
    Abcam antibodies for PIGM
    Cloud-Clone Corp. Antibodies for PIGM
    ThermoFisher Antibodies for PIGM
    antibodies-online antibodies for PIGM (10 products) 

    PIGM Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PIGM
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PIGM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PIGM
    Cloud-Clone Corp. CLIAs for PIGM
    Search eBioscience for ELISAs for PIGM 
    antibodies-online kits for PIGM (10 products) 


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

    TryGeneCards Plus
    HGNC Gene Families:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases
    PIG: Phosphatidylinositol glycan anchor biosynthesis

    1 InterPro protein domain:
     IPR007704 Mannosyltransferase_DXD

    Graphical View of Domain Structure for InterPro Entry Q9H3S5

    ProtoNet protein and cluster: Q9H3S5

    UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5
    Similarity: Belongs to the PIGM family


    Find genes that share domains with PIGM           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIGM_HUMAN, Q9H3S5
    Function: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first
    alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    Find genes that share ontologies with PIGM           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PIGM

    miRNA
    Products:
        
    miRTarBase miRNAs that target PIGM:
    hsa-mir-192-5p (MIRT026741), hsa-mir-215-5p (MIRT024531)

    Block miRNA regulation of human, mouse, rat PIGM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIGM (see all 12):
    hsa-miR-548am hsa-miR-576-5p hsa-miR-892b hsa-miR-7-2* hsa-miR-3133 hsa-miR-500a hsa-miR-9 hsa-miR-501-5p
    SwitchGear 3'UTR luciferase reporter plasmidPIGM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PIGM
    Predesigned siRNA for gene silencing in human, mouse, rat PIGM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PIGM

    Clone
    Products:
         
    OriGene clones in human, mouse for PIGM (see all 6)
    OriGene ORF clones in mouse, rat for PIGM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PIGM (NM_145167)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PIGM
    Browse ESI BIO Cell Lines and PureStem Progenitors for PIGM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PIGM_HUMAN, Q9H3S5: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PIGM           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for PIGM 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
    Synthesis of glycosylphosphatidylinositol (GPI)0.00
    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 PIGM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PIGM
        Synthesis of glycosylphosphatidylinositol (GPI)


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

    UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

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

        Search GeneGlobe Interaction Network for PIGM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for PIGM (Q9H3S53 ENSP000003570694) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGXQ8TBF53, ENSP000003173014I2D: score=1 STRING: ENSP00000317301
    ALDH3A1P308383I2D: score=2 
    GIPC1O149083I2D: score=2 
    ACTBP607093I2D: score=1 
    ACTG1P632613I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with PIGM           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)
    About This Section

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

    Browse Tocris compounds for PIGM

    Selected HMDB Compounds for PIGM (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PIGM gene: 
    NM_145167.2  

    Unigene Cluster for PIGM:

    Phosphatidylinositol glycan anchor biosynthesis, class M
    Hs.552810  [show with all ESTs]
    Unigene Representative Sequence: NM_145167
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368090(uc001fuv.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PIGM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIGM (see all 12):
    hsa-miR-548am hsa-miR-576-5p hsa-miR-892b hsa-miR-7-2* hsa-miR-3133 hsa-miR-500a hsa-miR-9 hsa-miR-501-5p
    SwitchGear 3'UTR luciferase reporter plasmidPIGM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PIGM
    Predesigned siRNA for gene silencing in human, mouse, rat PIGM
    Clone
    Products:
         
    OriGene clones in human, mouse for PIGM (see all 6)
    OriGene ORF clones in mouse, rat for PIGM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PIGM (NM_145167)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PIGM
    OriGene qSTAR qPCR primer pairs in human, mouse for PIGM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGM
      QuantiTect SYBR Green Assays in human, mouse, rat PIGM
      QuantiFast Probe-based Assays in human, mouse, rat PIGM

    Additional mRNA sequence: 

    AB028127.1 AK074655.1 BC001803.1 BC011395.1 BC019865.1 

    5 DOTS entries:

    DT.109042  DT.108723  DT.100779967  DT.97781362  DT.100667066 

    Selected AceView cDNA sequences (see all 125):

    AA251826 AA662913 AW866630 AA251825 H88189 BC001803 BQ018479 BX471158 
    AK074655 AB028127 CR602111 BM684777 NM_145167 H88190 BQ937190 CD519160 
    AW514672 BQ434884 BP345091 BI760251 BQ639200 CR621612 AA161444 BU076247 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

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

    PIGM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.552810
        Custom PCR Arrays for PIGM
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PIGM
    OriGene qSTAR qPCR primer pairs in human, mouse for PIGM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGM
    QuantiTect SYBR Green Assays in human, mouse, rat PIGM
    QuantiFast Probe-based Assays in human, mouse, rat PIGM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGM gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigm1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 85.66(n)1
    89.83(a)1
      1 (79.73 cM)5
    675561  NM_026234.41  NP_080510.11 
     1723765315 
    chicken
    (Gallus gallus)
    Aves PIGM1 phosphatidylinositol glycan anchor biosynthesis, class more 65.58(n)
    62.72(a)
      428583  NM_001031522.2  NP_001026693.2 
    lizard
    (Anolis carolinensis)
    Reptilia PIGM6
    phosphatidylinositol glycan anchor biosynthesis, c...
    64(a)
    1 ↔ 1
    1(216582886-216584154)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.170512 Transcribed sequence with weak similarity to protein more 75.81(n)    BX741733.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641772 hypothetical protein MGC64177 72.73(n)   393361  BC053299.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG98651 CG9865 48.63(n)
    41.64(a)
      37470  NM_137756.3  NP_611600.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0491.11 B0491.1 51.2(n)
    44.53(a)
      174736  NM_064025.3  NP_496426.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPI14(YJR013W)4
    GPI141
    Glycosylphosphatidylinositol-alpha 1,4 mannosyltransferase more4
    GPI141
    50.13(n)1
    40.99(a)1
      10(460382-461593)4
    8534701, 4  NP_012547.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PNT11 PNT1 47.46(n)
    42.89(a)
      832274  NM_001203432.1  NP_001190361.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06702001 Os03g0670200 50.26(n)
    42.75(a)
      4333686  NM_001057404.1  NP_001050869.1 


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

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

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PIGM (see all 157)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114140391,2
    C--159999185(+) TTTTT-/T/TT  
            
    GATAT
    2 -- ut31 trp30--------
    rs666691031,2
    C--160003289(+) TTCAA-/CTTTAT 1 -- us2k10--------
    rs801707361,2
    F--166492665(+) CCTAGG/CTATAA 1 -- ds50011Minor allele frequency- C:0.02NA 120
    rs13190861,2
    C,F,A,H--166492693(-) TGAATG/AGAAAA 1 -- ds5001 ese3 trp321Minor allele frequency- A:0.18NA EA NS WA 2569
    rs1424671851,2
    --166492757(+) AGAAGC/TAACAG 1 -- ds50010--------
    rs64275031,2
    C,F,A,H--166492898(+) AAGCAC/GTGGGT 1 -- ds5001 ese311Minor allele frequency- G:0.23NS EA NA WA 782
    rs1898569271,2
    --166493036(+) ACACAC/TAATCT 1 -- ds50010--------
    rs19340851,2
    C,F,O,A--166493052(+) ATCATA/CCCTCT 1 -- ds5001 ese311Minor allele frequency- N:0.00EA NA WA 582
    rs1486382301,2
    C--166493214(+) GAAGC-/AAAAAA 1 -- ut310--------
    rs1807670701,2
    C--166493314(+) CTAAAC/TGTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PIGM (159997462 - 160001783 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PIGM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669935CNV Deletion23128226

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 610273   
    OMIM disorders: 610293  
    UniProtKB/Swiss-Prot: PIGM_HUMAN, Q9H3S5
  • Glycosylphosphatidylinositol deficiency (GPID) [MIM:610293]: Autosomal recessive trait that results in a
    propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences
    of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong
    reduction of expression. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for PIGM:    
    About MalaCards
    glycosylphosphatidylinositol deficiency


    Find genes that share disorders with PIGM           About GenesLikeMe


    Export disorders for PIGM 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

    TryGeneCards Plus

    PubMed articles for PIGM gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with PIGM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. (PubMed id 11226175)1, 2, 3 Maeda Y....Kinoshita T. (EMBO J. 2001)
    2. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (PubMed id 16767100)1, 2 Almeida A.M.... Karadimitris A. (Nat. Med. 2006)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    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. 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)
    6. Understanding human glycosylation disorders: biochemistry leads the charge. (PubMed id 23329837)1 Freeze H.H. (J. Biol. Chem. 2013)
    7. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    9. Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. (PubMed id 15635094)1 Ashida H.... Kinoshita T. (Mol. Biol. Cell 2005)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 93183 HGNC: 18858 AceView: PIGM Ensembl:ENSG00000143315 euGenes: HUgn93183
    ECgene: PIGM Kegg: 93183 H-InvDB: PIGM

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PIGM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PIGM gene:
    Search GeneIP for patents involving PIGM

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PIGM  
     OriGene qPCR primer pairs and template standards for PIGM   OriGene Protein Over-expression Lysate for PIGM  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PIGM  
     OriGene qSTAR qPCR primer pairs in human, mouse for PIGM   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PIGM   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PIGM   OriGene Custom Protein Services for PIGM  

     
     
     Block miRNA regulation of human, mouse, rat PIGM using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PIGM
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGM Predesigned siRNA for gene silencing in human, mouse, rat PIGM
     QuantiFast Probe-based Assays in human, mouse, rat PIGM QuantiTect SYBR Green Assays in human, mouse, rat PIGM
     Custom PCR Arrays for PIGM Search Chromatin IP Primers for PIGM
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGM  Search GeneGlobe Interaction Network for PIGM
     Regulatory tfbs in PIGM promoter
     GenScript Custom Purified and Recombinant Proteins Services for PIGM GenScript cDNA clones with any tag delivered in your preferred vector for PIGM
     GenScript Custom Assay Services for PIGM GenScript Custom overexpressing Cell Line Services for PIGM
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PIGM
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PIGM antibodies
     PIGM proteins
     PIGM lysates
     Antibodies for PIGM
     See all of Abcam's Antibodies, Kits and Proteins for PIGM
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PIGM
     Antibodies for PIGM
     ELISAs for PIGM
     CLIAs for PIGM



     Browse ESI BIO Cell Lines and PureStem Progenitors for PIGM
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGM
     SwitchGear 3'UTR luciferase reporter plasmids for PIGM
     SwitchGear Promoter luciferase reporter plasmids for PIGM
     ThermoFisher Antibodies for PIGM
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGM
     Browse compounds at ApexBio
     Search Addgene for plasmids for PIGM
      Search eBioscience for proteins for PIGM
      Search eBioscience for elisas for PIGM
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PIGM
     antibodies-online antibodies for PIGM (10 products)
     antibodies-online kits for PIGM (10 products)
     antibodies-online peptides for PIGM
     antibodies-online proteins for PIGM (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PIGM gene at Home site.
    Version: 3.12.252 27 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4