Ask about this productRelated genes to: PIGQ antibody
- Gene:
- PIGQ NIH gene
- Name:
- phosphatidylinositol glycan anchor biosynthesis class Q
- Previous symbol:
- -
- Synonyms:
- hGPI1, GPI1
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-21
- Date modifiied:
- 2015-11-06
Related products to: PIGQ antibody
Related articles to: PIGQ antibody
- Diamond-Blackfan anemia syndrome (DBAS) is a congenital pure red-cell aplasia that is often accompanied by physical deformities. Heterozygous mutations in more than 20 ribosomal protein (RP) genes have been linked to the disease. The most frequently mutated gene is RPS19, which accounts for 25% of the patients. Haploinsufficiency of the RP genes may affect translation of specific mRNAs that could be related to the anemia. However, the underlying mechanisms are still unclear. To evaluate the impacts of RP depletion on translation, using a zebrafish model of DBAS with knockdown of the RPS19 ortholog (rps19), we compared changes in polysomal mRNAs with those in total mRNAs in the DBAS model to examine the translation efficiency of individual transcripts. As a result, we calculated the translation efficiency of 5464 transcripts. Among them, the transcripts from 75 genes exhibited translational repression to less than half compared to the controls. Erythropoiesis-related genes were enriched among the repressed genes. Unexpectedly, some genes related to glycan biosynthesis were also translationally repressed. One of these was the pigq gene, which participates in a glycosylphosphatidylinositol-anchor biosynthesis. We injected synthesized pigq mRNA into embryos with rps19 knockdown (the DBAS model), and found that the anemia phenotype was rescued, but morphological defects were not, indicating its role in erythropoiesis in zebrafish. These results suggest that impaired translation of erythropoiesis-related and glycan biosynthesis-related genes is implicated in the pathogenesis of DBAS. - Source: PubMed
Publication date: 2026/06/05
Uechi TamayoNagatomo MarikoNakajima YukariSuzuki YutakaKenmochi Naoya - Prenatal exposure to famine can lead to lasting health effects through changes in DNA methylation. This study aims to evaluate the impact of prenatal exposure to the Chinses Great Famine (1959-1961) on human epigenome and the subsequent influence on blood lipids. - Source: PubMed
Publication date: 2025/10/02
Wang HuanShen LuqiLiu TingtingZhang RuiyuanWang ZhengheWei JingkaiShen YeGuo JinzhenMiles ToniLi ChangweiZou Zhiyong - Right-sided heart failure (RHF), in the presence of tricuspid valve regurgitation (TR), can result from left-sided heart failure (LHF), pulmonary hypertension (PH), or heart malformations. The occurrence of RHF and TR represents a critical indicator of hospitalization rates and all-cause mortality. However, RHF has remained understudied, specifically with respect to the tricuspid valve, with few animal models to investigate the transformative processes and identify novel interventions. - Source: PubMed
Publication date: 2025/07/25
Goodyke AustinGaweda BoguslawPiekarska MagdaArora SanjanaWestgate MasonLoyaga-Rendon RenzoJani MilenaRausch Manuel KAguirre AitorProkop Jeremy WTimek Tomasz A - The glycosylphosphatidylinositol (GPI) anchor is a glycolipid that anchors proteins to the eukaryotic cell surface. An anchoring process is a posttranslational modification of at least 150 molecules with various functions. Biallelic causal variants in the gene (OMIM: * 605754) are associated with a type of disorder of glycosylphosphatidylinositol biosynthesis (PIGQ-congenital disorders of glycosylation (CDGs), also called multiple congenital anomalies-hypotonia-seizures syndrome 4 (MCAHS4, OMIM: # 618548). Only 11 patients with this condition have been reported to date. - Source: PubMed
Publication date: 2025/07/11
Kušíková KatarínaHsieh Tzung-ChienPfeifer MatejaFauth ChristineMurakami YoshikoLaccone FrancoKarall DanielaBonfig WalterStewart HelenWeis Denisa - Glycosylphosphatidylinositol (GPI) serves as a membrane anchor of numerous cell surface proteins. It is synthesized in the endoplasmic reticulum from phosphatidylinositol (PI) by stepwise reactions and transferred to the C terminus of the protein. Defects in genes involved in GPI biosynthesis affect the expression of GPI-anchored proteins or their structure, causing the neurological disorder, inherited GPI deficiency. Individuals with ARV1 deficiency have symptoms resembling inherited GPI deficiency, but how ARV1 regulates GPI biosynthesis is poorly understood. Here, we show that ARV1 acts as a component of the enzyme initiating GPI biosynthesis, GPI N-acetylglucosaminyltransferase (GPI-GnT) complex, which forms a ring structure as predicted by AlphaFold3. ARV1 associates with PIGQ, a GPI-GnT component, and ARV1 mutants defective in this association lose their ability to enhance GPI-GnT activity, showing that association with PIGQ is critical for ARV1's function. ARV1-containing GPI-GnT used PI more efficiently than ARV1-less GPI-GnT in an in vitro enzyme assay. Collectively, our results suggest that ARV1 facilitates efficient recruitment of PI to GPI-GnT, thereby playing a critical role in the regulation of GPI-anchored protein expression. - Source: PubMed
Publication date: 2025/05/14
Lu TianTianUmeshita SaoriImanishi KaeWang YichengLiu Yi-ShiNagae MasamichiSenoo YuyaIkeda KazutakaFujita MorihisaKinoshita TarohMurakami Yoshiko