BC019865
[Other Products]
UniProt Related Accession #
Molecular Weight
49,460 Da
NCBI Official Full Name
Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class M, mRNA
NCBI Official Synonym Full Names
phosphatidylinositol glycan anchor biosynthesis class M
NCBI Official Synonym Symbols
NCBI Protein Information
GPI mannosyltransferase 1
UniProt Protein Name
GPI mannosyltransferase 1
UniProt Synonym Protein Names
GPI mannosyltransferase I; GPI-MT-I; Phosphatidylinositol-glycan biosynthesis class M protein; PIG-M
UniProt Synonym Gene Names
UniProt Entry Name
PIGM_HUMAN
NCBI Summary for PIGM
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]
UniProt Comments for PIGM
PIGM: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly. Defects in PIGM are the cause of glycosylphosphatidylinositol deficiency (GPID). GPID is an 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. Belongs to the PIGM family.
Protein type: Membrane protein, integral; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; EC 2.4.1.-; Membrane protein, multi-pass; Transferase
Chromosomal Location of Human Ortholog: 1q23.2
Cellular Component: endoplasmic reticulum membrane
Biological Process: preassembly of GPI anchor in ER membrane
Disease: Glycosylphosphatidylinositol Deficiency
Research Articles on PIGM
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Pathways associated with PIGM cdna clone
Diseases associated with PIGM cdna clone
Organs/Tissues associated with PIGM cdna clone
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