Product Name
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA), Recombinant Protein
Full Product Name
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
Product Gene Name
PIGA recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
1-484aa; full length protein
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 GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI IDVAIDATGP RGAWTNNYSH SKRGGENNEI SETR
3D Structure
ModBase 3D Structure for P37287
Host
Cell Free Expression
Form/Format
Liquid containing glycerol
Species
Homo sapiens (Human)
Storage Buffer
Tris-based buffer, 50% glycerol.
Preparation and Storage
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 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.
Related Product Information for
PIGA recombinant protein
This is a recombinant transmembrane protein expressed in a cell-free expression system.
Product Categories/Family for PIGA recombinant protein
Transmembrane Protein
NCBI/Uniprot data below describe general gene information for PIGA. It may not necessarily be applicable to this product.
NCBI Accession #
NP_002632.1
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NCBI GenBank Nucleotide #
NM_002641.3
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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
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
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
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]
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: Membrane protein, integral; Transferase; EC 2.4.1.198; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Chromosomal Location of Human Ortholog: Xp22.1
Cellular Component: endoplasmic reticulum membrane; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; membrane
Molecular Function: phosphatidylinositol N-acetylglucosaminyltransferase activity; protein binding; UDP-glycosyltransferase activity
Biological Process: GPI anchor biosynthetic process; positive regulation of metabolic process; preassembly of GPI anchor in ER membrane
Disease: Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2; Paroxysmal Nocturnal Hemoglobinuria 1
Research Articles on PIGA
1. This case reports on a new missense PIGA germline mutation in a Chinese male infant presenting with developmental arrest and multisystemic disorders.
Precautions
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Disclaimer
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