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Phosphatidylinositol glycan anchor biosynthesis, class M

PIG-M, GPI-MT-I, GPI mannosyltransferase I
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] (from NCBI)
Top mentioned proteins: MT1, ACID, PIG-L, CD59, SP1
Papers on PIG-M
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Karadimitris et al., London, United Kingdom. In Blood, 2014
A rare point mutation in the core promoter -270GC-rich box of PIGM, a housekeeping gene, disrupts binding of the generic transcription factor (TF) Sp1 and causes inherited glycosylphosphatidylinositol (GPI) deficiency (IGD).
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Horn et al., Berlin, Germany. In Am J Hum Genet, 2013
To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Abou Jamra et al., Copenhagen, Denmark. In Am J Hum Genet, 2013
Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP).
Analysis of in vivo oocyte maturation, in vitro embryo development and gene expression in cumulus cells of dairy cows and heifers selected for one fertility quantitative trait loci (QTL) located on BTA3.
Dupont et al., France. In Theriogenology, 2012
Transcript levels of TAGLN2, EEF1A1 and PIGM were higher in CCs after in vitro maturation (IVM) compared to in vivo maturation, whereas no difference was observed for IFI16, KIRREL, SPTA1 and PEX19 expression.
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
Kinoshita et al., Ōsaka, Japan. In J Biol Chem, 2012
In contrast, a previously reported PIGM deficiency, in which there is a defect in the transfer of the first mannose, does not result in hyperphosphatasia.
Babesia bovis contains an abundant parasite-specific protein-free glycerophosphatidylinositol and the genes predicted for its assembly.
Florin-Christensen et al., Argentina. In Vet Parasitol, 2010
The potential of B. bovis to assemble the presented free GPI species was verified by the existence of seven genes in its genome that putatively encode the following GPI biosynthetic enzymes: PI N-acetyl-GlcN-transferase (PIG-A and GPI-1), N-acetyl-GlcN-PI-de-N-acetylase (PIG-L), acyltransferase (PIG-W), dolichyl-phosphate mannosyl transferase (DPM-1), GPI mannosyltransferase I (PIG-M), and GPI mannosyltransferase II (PIG-V).
Inherited GPI deficiency: a disorder of histone hypoacetylation.
Karadimitris et al., London, United Kingdom. In Birth Defects Res C Embryo Today, 2009
We review here the transcriptional, epigenetic, biochemical, and clinical consequences of a constitutional mutation in the promoter of PIGM, a housekeeping gene that disrupts binding of the general TF, SP1, thus causing the autosomal recessive disease, inherited glycosylphosphatidylinositol (GPI) deficiency.
Bioinformatics and functional analysis of an Entamoeba histolytica mannosyltransferase necessary for parasite complement resistance and hepatical infection.
Guillén et al., Paris, France. In Plos Negl Trop Dis, 2007
We identified an E. histolytica homolog of PIG-M, which is a mannosyltransferase required for synthesis of GPI.
Functional analysis of the first mannosyltransferase (PIG-M) involved in glycosylphosphatidylinositol synthesis in Plasmodium falciparum.
Hong et al., Asan, South Korea. In Mol Cells, 2007
PIG-M encodes the mammalial GPI-MT-I which has 423 amino acids and multiple transmembrane domains.
Both mammalian PIG-M and PIG-X are required for growth of GPI14-disrupted yeast.
Kinoshita et al., Sun City, United States. In J Biochem, 2007
GPI mannosyltransferase I (GPI-MT-I) transfers the first mannose to a GPI-anchor precursor, glucosamine-(acyl)phosphatidylinositol [GlcN-(acyl)PI].
Targeted therapy for inherited GPI deficiency.
Karadimitris et al., London, United Kingdom. In N Engl J Med, 2007
Disrupted binding of the transcription factor Sp1 to the mutated promoter region of the mannosyl transferase-encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy.
PimE is a polyprenol-phosphate-mannose-dependent mannosyltransferase that transfers the fifth mannose of phosphatidylinositol mannoside in mycobacteria.
Kinoshita et al., Ōsaka, Japan. In J Biol Chem, 2006
PimE was initially identified based on homology with eukaryotic PIG-M mannosyltransferases. PimE-deleted Mycobacterium smegmatis was defective in AcPIM6 synthesis, and accumulated the tetramannosyl PIM, AcPIM4.
Genetic characterization and fine mapping of the blast resistance locus Pigm(t) tightly linked to Pi2 and Pi9 in a broad-spectrum resistant Chinese variety.
He et al., Shanghai, China. In Theor Appl Genet, 2006
Genetic and mapping analysis indicated that blast resistance to nine isolates of different Chinese races in GM4 was controlled by the same dominant locus designated as Pigm(t) that was finely mapped to an approximately 70-kb interval between markers C5483 and C0428 on chromosome 6, which contains five candidate NBS--LRR disease resistance genes.
Heterogeneity in the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) syndromes and expansion mechanism of a PNH clone.
Noji et al., Fukushima, Japan. In Int J Hematol, 2006
These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor.
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Karadimitris et al., London, United Kingdom. In Nat Med, 2006
Mutation substantially reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol(GPI), leading to partial but severe deficiency of GPI.
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