PIGK

Last update 08 May 2025

Basic Info

Synonyms

GPI transamidase, GPI-anchor transamidase, GPI8

+ [6]

Introduction

Component of the GPI transamidase complex, necessary for transfer of GPI to proteins (PubMed:34576938). Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.

100 Clinical Results associated with PIGK

100 Translational Medicine associated with PIGK

0 Patents (Medical) associated with PIGK

Literatures (Medical) associated with PIGK

01 May 2025·Journal of Gastroenterology

Migrasome-related prognostic signature TSPAN4 correlates with immune infiltrates and metabolic disturbances in hepatocellular carcinoma

Article

Author: Li, Jianzhou ; Zhou, Mimi ; Zhao, Yalei ; He, Yingli ; Zhang, Xiaoli ; Yao, Yichen

BACKGROUNDWe aim to comprehensively analyze and validate the prognostic efficacy of tetraspanin 4 (TSPAN4) and several other migrasome-related markers in hepatocellular carcinoma (HCC).METHODSThe expression, diagnostic, and prognostic efficacy of five migrasome-related genes in HCC were analyzed using several databases. Five pairs of adjacent non-tumor tissues and HCC tissues were used to validate the expression. The prognostic efficacy of TSPAN4 was validated in a HCC cohort. TSPAN4 was knocked down in Huh-7 cells, EdU, and CCK-8, and wound healing assays were conducted to analyze its effects on cell proliferation and migration. In addition, transcriptomic sequencing was used to identify differentially expressed genes.RESULTSCompared with those in normal tissues, four genes (TSPAN4, PIGK, NDST1, and CPQ) were elevated in liver hepatocellular carcinoma (LIHC), but not TSPAN7. Of these, only elevated TSPAN4 predicted unfavorable prognosis of HCC patients. The expression and prognostic efficacy of TSPAN4 were further confirmed in a HCC cohort (97 patients); and patients in the TSPAN4^high group showed unfavorable overall survival (log-rank P = 0.0055). Functional analysis showed that TSPAN4 knockdown significantly suppressed cell migration, but not cell proliferation. Moreover, TSPAN4 knockdown induced disturbances of the metabolic pathways, mainly pentose and glucuronate interconversions.CONCLUSIONSTPSAN4 is a promising prognostic and therapeutic target for HCC treatment and may be involved in the metabolic pathways that affect disease progression.

01 Dec 2024·Journal of Gastroenterology and Hepatology

Bioinformatics and experimental validation were combined to explore lactylation‐related biomarkers in HBV‐associated acute liver failure

Article

Author: Chen, Yue‐qiao ; Li, Jian‐yu ; Wu, Feng‐lan ; Pei, Hao ; Pan, Li‐yi ; Chen, Yu ; Zhang, Yan‐yan ; Zhang, Xue ; Huang, Yu‐wen

AbstractBackground and AimCurrently, hepatitis B virus‐related acute liver failure (HBV‐ALF) has limited treatment options. Studies have shown that histone lactylation plays a role in the progression of liver‐related diseases. Therefore, it is essential to explore lactylation‐related gene (LRGs) biomarkers in HBV‐ALF to provide new information for the treatment of HBV‐ALF.MethodsTwo HBV‐ALF‐related datasets (GSE38941 and GSE14668) and 65 LRGs were used. First, the differentially expressed genes (DEGs) were derived from differential expression analysis, the key module genes from weighted gene co‐expression network analysis; and LRGs were used to intersect to obtain the candidate genes. Subsequently, the feature genes obtained from least absolute shrinkage and selection operator regression analysis and support vector machine analysis were intersected to obtain the candidate key genes. Among them, genes with consistent and significant expression trends in both GSE38941 and GSE14668 were used as biomarkers. Subsequently, biomarkers were analyzed for functional enrichment, immune infiltration, and sensitive drug prediction.ResultsIn this study, five candidate genes (PIGM, PIGA, EGR1, PIGK, and PIGL) were identified by intersecting 6461 DEGs and 2496 key module genes with 65 LRGs. We then screened four candidate key genes from the machine learning algorithm, among which PIGM and PIGA were considered biomarkers in HBV‐ALF. Moreover, the results of enrichment analysis showed that the significant enrichment signaling pathways for biomarkers included allograft rejection and valine, leucine, and isoleucine degradation. Thereafter, 11 immune cells differed significantly between groups, with resting memory CD4+ T cells having the strongest positive correlation with biomarkers. Methylphenidate hydrochloride is a potential therapeutic drug for PIGM.ConclusionTwo genes, PIGM and PIGA, were identified as biomarkers related to LRGs in HBV‐ALF, providing a basis for understanding HBV‐ALF pathogenesis.

01 Nov 2024·Journal of Human Genetics

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Article

Author: Low, Sean E ; Hirata, Hiromi ; Murakami, Yoshiko ; Hasegawa, Yuiko ; Sadamitsu, Kenichiro ; Kaname, Tadashi ; Ooshima, Daikun ; Yanagi, Kumiko ; Matsubara, Yoichi ; Okamoto, Nobuhiko

Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the plasma membrane. This attachment is catalyzed by GPI transamidase comprising five subunits (PIGK, PIGS, PIGT, PIGU, and GPAA1) in the endoplasmic reticulum. Loss of either subunit of GPI transamidase eliminates cell surface localization of GPI-anchored proteins. In humans, pathogenic variants in either subunit of GPI transamidase cause neurodevelopmental disorders. However, how the loss of GPI-anchored proteins triggers neurodevelopmental defects remains largely unclear. Here, we identified a novel homozygous variant of PIGK, NM_005482:c.481A > G,p. (Met161Val), in a Japanese female patient with neurodevelopmental delay, hypotonia, cerebellar atrophy, febrile seizures, hearing loss, growth impairment, dysmorphic facial features, and brachydactyly. The missense variant was found heterozygous in her father, but not in her mother. Zygosity analysis revealed that the homozygous PIGK variant in the patient was caused by paternal isodisomy. Rescue experiments using PIGK-deficient CHO cells revealed that the p.Met161Val variant of PIGK reduced GPI transamidase activity. Rescue experiments using pigk mutant zebrafish confirmed that the p.Met161Val variant compromised PIGK function in tactile-evoked motor response. We also demonstrated that axonal localization of voltage-gated sodium channels and concomitant generation of action potentials were impaired in pigk-deficient neurons in zebrafish, suggesting a link between GPI-anchored proteins and neuronal defects. Taken together, the missense p.Met161Val variant of PIGK is a novel pathogenic variant that causes the neurodevelopmental disorder.

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PIGK

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