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PIGA recombinant protein :: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA) Recombinant Protein

Scan QR to view Datasheet Catalog #    MBS718241 PIGA recombinant protein
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA), Recombinant Protein

 Also Known As   

Recombinant Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA)

 Product Synonym Names    Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; EC=2.4.1.198; GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A
 Product Gene Name   

PIGA recombinant protein

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Sequence Positions    1-421
 Sequence    MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE SHIYQLSQCL IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ STATTLFHSL PLLRYIFVRE RVTIIHSHSS FSAMAHDALF HAKTMGLQTV FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH IICVSYTSKE NTVLRAALNP EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI DLLSGIIPEL CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP SVKSLCEGLE KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR VSVEAVLPMD KRLDRLISHC G
 OMIM    311770
 3D Structure    ModBase 3D Structure for P37287
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 Host    E Coli or Yeast or Baculovirus or Mammalian Cell
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 Purity/Purification    >=90% (lot specific)
 Form/Format    Liquid containing glycerol
 Tag Information    This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.
 Sterility    Sterile filter available upon request.
 Endotoxin    Low endotoxin available upon request.
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 Species    Homo sapiens (Human)
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 Preparation and Storage    Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of PIGA recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for PIGA. It may not necessarily be applicable to this product.
 NCBI GI #    11863130
 NCBI GeneID    5277
 NCBI Accession #    NP_002632.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_002641.3 [Other Products]
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 UniProt Primary Accession #    P37287 [Other Products]
 UniProt Secondary Accession #    Q16025; Q16250; B4E0V2 [Other Products]
 UniProt Related Accession #    P37287 [Other Products]
 Molecular Weight    28,034 Da
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 NCBI Official Full Name    phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1
 NCBI Official Synonym Full Names    phosphatidylinositol glycan anchor biosynthesis, class A
 NCBI Official Symbol    PIGA [Similar Products]
 NCBI Official Synonym Symbols   
GPI3; PNH1; PIG-A; MCAHS2
[Similar Products]
 NCBI Protein Information    phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GPI anchor biosynthesis; GLCNAC-PI synthesis protein; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol-glycan biosynthesis, class A protein
 UniProt Protein Name    Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
 UniProt Synonym Protein Names   
GlcNAc-PI synthesis protein; Phosphatidylinositol-glycan biosynthesis class A protein; PIG-A
 Protein Family    Phosphatidylinositol N-acetylglucosaminyltransferase
 UniProt Gene Name    PIGA [Similar Products]
 UniProt Synonym Gene Names    PIG-A [Similar Products]
 UniProt Entry Name    PIGA_HUMAN
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 NCBI Summary for PIGA    This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
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 UniProt Comments for PIGA    PIGA: Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. Defects in PIGA are the cause of paroxysmal nocturnal hemoglobinuria (PNH). PNH is a disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Clinical manifestation of red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. Defects in PIGA are the cause of multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2). An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.198; Transferase; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp22.1

Cellular Component: endoplasmic reticulum membrane; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; membrane; integral to membrane

Molecular Function: protein binding; phosphatidylinositol N-acetylglucosaminyltransferase activity; UDP-glycosyltransferase activity

Biological Process: cellular protein metabolic process; positive regulation of metabolic process; preassembly of GPI anchor in ER membrane; GPI anchor biosynthetic process; C-terminal protein lipidation; post-translational protein modification

Disease: Paroxysmal Nocturnal Hemoglobinuria 1; Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2
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 Research Articles on PIGA    1. The results of this study confirmed that PIGA mutations are one genetic cause of early-onset epileptic encephalopathies, suggesting that GPI-anchor deficiencies may be an underlying cause of EOEE.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with PIGA recombinant proteinPathways associated with PIGA recombinant protein
 Reference Product  PubMed Publications
 PIGR recombinant protein  >39 publications with PIGA and PIGR
 CD59 recombinant protein  >22 publications with PIGA and CD59
 PIGF recombinant protein  >4 publications with PIGA and PIGF
 PIGH recombinant protein  >4 publications with PIGA and PIGH
 PIGL recombinant protein  >3 publications with PIGA and PIGL
 PIGC recombinant protein  >3 publications with PIGA and PIGC
 PIGY recombinant protein  >1 publications with PIGA and PIGY
 Products by Pathway  Pathway Diagram
 GPI-anchor Biosynthesis, Core Oligosaccharide Pathway antibodies  GPI-anchor Biosynthesis, Core Oligosaccharide Pathway Diagram
 GPI-anchor Biosynthesis, Core Oligosaccharide Pathway antibodies  GPI-anchor Biosynthesis, Core Oligosaccharide Pathway Diagram
 Glycosylphosphatidylinositol(GPI)-anchor Biosynthesis Pathway antibodies  Glycosylphosphatidylinositol(GPI)-anchor Biosynthesis Pathway Diagram
 Glycosylphosphatidylinositol(GPI)-anchor Biosynthesis Pathway antibodies  Glycosylphosphatidylinositol(GPI)-anchor Biosynthesis Pathway Diagram
 Metabolism Of Proteins Pathway antibodies  Metabolism Of Proteins Pathway Diagram
 Post-translational Modification: Synthesis Of GPI-anchored Proteins Pathway antibodies  Post-translational Modification: Synthesis Of GPI-anchored Proteins Pathway Diagram
 Post-translational Protein Modification Pathway antibodies  Post-translational Protein Modification Pathway Diagram
 Synthesis Of Glycosylphosphatidylinositol (GPI) Pathway antibodies  Synthesis Of Glycosylphosphatidylinositol (GPI) Pathway Diagram
Diseases associated with PIGA recombinant proteinOrgans/Tissues associated with PIGA recombinant protein
 Disease Name  Pubmed Publications
 Anemia Antibodies  >144 publications with PIGA and Anemia
 Neoplasms Antibodies  >106 publications with PIGA and Neoplasms
 Hemoglobinuria, Paroxysmal Antibodies  >54 publications with PIGA and Hemoglobinuria, Paroxysmal
 Nervous System Diseases Antibodies  >41 publications with PIGA and Nervous System Diseases
 Liver Diseases Antibodies  >40 publications with PIGA and Liver Diseases
 Gastrointestinal Diseases Antibodies  >38 publications with PIGA and Gastrointestinal Diseases
 Heart Diseases Antibodies  >38 publications with PIGA and Heart Diseases
 Kidney Diseases Antibodies  >36 publications with PIGA and Kidney Diseases
 Brain Diseases Antibodies  >29 publications with PIGA and Brain Diseases
 Drug Toxicity Antibodies  >28 publications with PIGA and Drug Toxicity
 Organ/Tissue Name  Pubmed Publications
 Blood Antibodies  >239 publications with PIGA and Blood
 Liver Antibodies  >124 publications with PIGA and Liver
 Kidney Antibodies  >47 publications with PIGA and Kidney
 Lung Antibodies  >28 publications with PIGA and Lung
 Brain Antibodies  >28 publications with PIGA and Brain
 Intestine Antibodies  >16 publications with PIGA and Intestine
 Spleen Antibodies  >9 publications with PIGA and Spleen
 Skin Antibodies  >9 publications with PIGA and Skin
 Lymph Node Antibodies  >6 publications with PIGA and Lymph Node
 Stomach Antibodies  >6 publications with PIGA and Stomach
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