Ask about this productRelated genes to: GIPC1 Blocking Peptide
- Gene:
- GIPC1 NIH gene
- Name:
- GIPC PDZ domain containing family member 1
- Previous symbol:
- C19orf3, RGS19IP1
- Synonyms:
- TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP
- Chromosome:
- 19p13.12
- Locus Type:
- gene with protein product
- Date approved:
- 1998-12-01
- Date modifiied:
- 2016-10-05
Related products to: GIPC1 Blocking Peptide
Related articles to: GIPC1 Blocking Peptide
- Noncoding GGC repeat expansion of various genes leads to oculopharyngodistal myopathy (OPDM), an adult-onset progressive neuromuscular disorder characterized by ophthalmoplegia, pharyngeal dysfunction, and distal limb muscular weakness. Recently, clinical overlap among noncoding GGC repeat-associated neuromuscular diseases, including OPDM, fragile X-associated tremor/ataxia syndrome (FXTAS), and neuronal intranuclear inclusion disease (NIID), has been recognized. Here, we present an autopsy case of OPDM with mutation (OPDM2) in a 56-year-old man. Histopathological studies revealed loss of myelinated fibers in the cerebrum and the presence of neuronal and glial intranuclear inclusions, which are commonly observed in FXTAS and NIID. Numerous intranuclear inclusions in oligodendrocytes were a characteristic feature of our autopsied case. Although GGC repeat expansions in distinct genes produce similar neuropathological findings, such as neuronal and glial intranuclear inclusions, the affected cell populations differ. - Source: PubMed
Publication date: 2026/04/30
Yagita KaoruTakizawa HotakeSano TerunoriNakayma YujiOgasawara MasashiNishino IchizoOhya YasushiTakahashi YujiTakao Masaki - Hereditary ataxias are genetically heterogeneous; however, despite major advances in next-generation sequencing technologies, 20%-54% of childhood-onset cases remain genetically undiagnosed. - Source: PubMed
Publication date: 2026/04/13
Wu YingJi TaoyunTan QuanzhenChang XingzhiPan ShirangAn JingChen EnruiJiang YuwuDeng JianwenWei Cuijie - Understanding the molecular determinants of interindividual drug response variability remains a major challenge in pharmacogenomics. Very Important Pharmacogenes (VIPs), as defined by PharmGKB, represent genes with well-established roles in drug metabolism and efficacy. However, their activity occurs within complex molecular networks that extend beyond direct pharmacogenetic associations. We constructed a VIP-centered subnetwork and applied network topology analyses, including shortest path, signal propagation, and degree centrality, to identify key nodes mediating VIP interactions. Functional enrichment, transcription factor (TF) association, and drug-gene interaction analyses were subsequently performed to characterize the biological and pharmacological context of these networks. Our results revealed a dense VIP interactome enriched in metabolic, endocrine, and signaling pathways. Notably, we identified a subset of highly connected non-VIP genes that frequently bridge canonical VIPs, termed shadow VIPs. These genes, often encoding transcriptional regulators, such as , , and , and more frequent in the shortest paths connecting VIPs, such as POR, APP, and GIPC1, exhibited strong associations with approved drugs, particularly hormone-related and antineoplastic agents. This suggests that shadow VIPs may act as indirect regulators of pharmacogenomic phenotypes by influencing the expression or activity of canonical VIPs. Additionally, the analysis revealed that shadow VIPs, on average, exhibit lower RVIS values than VIPs, indicating a higher intolerance to functional mutations. This suggests that shadow VIPs are under stronger selective selection, underscoring their essential biological roles. Together, these findings expand the current pharmacogenomic framework, demonstrating that drug response mechanisms emerge from a wider network of regulatory and functional interactions. Introducing the concept of shadow VIPs highlights new molecular candidates for pharmacogenetic exploration and emphasizes the value of network-based approaches in advancing precision medicine. - Source: PubMed
Publication date: 2026/03/19
de Melo Nicolly ClementeAccioli Guilherme SilvaSánchez-Luquez KarenGomes Mateus Freitas de FariasFelicio Aline Cristinade Carvalho Lucas Miguel - Metabolic dysfunction-associated steatotic liver disease (MASLD) is a major cause of liver-related morbidity and mortality. Premenopausal women have a lower MASLD risk than postmenopausal women. G protein-coupled estrogen receptor 1 (GPER1) exerts hepatic protective effects, and GPER1 specific agonist (G1) has shown preclinical potential in improving metabolic disorders. However, clinical studies on G1's metabolic benefits and GPER1's clinical relevance in human liver tissue remain unclear. This study aims to bridge basic and clinical research by validating G1's efficacy in ameliorating MASLD-related hepatic steatosis, exploring its molecular mechanisms, and clarifying GPER1's association with human MASLD. - Source: PubMed
Publication date: 2026/03/18
Li YifangJiao Jian - BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are often similar, such as ptosis, dysphagia, and distal muscle weakness, the age at onset vary widely, and the mechanisms underlying this variation remain unclear. In particular, the contributions of repeat size, flanking sequence variation, and DNA methylation to phenotype have not been systematically explored using single-molecule resolution. METHODS: We applied CRISPR/Cas9-targeted nanopore sequencing (nCATS) to genomic DNA from 91 individuals carrying expanded CGG repeats in three OPDM-related genes (LRP12, GIPC1, and NOTCH2NLC). This approach enabled the simultaneous analysis of CGG repeat length, flanking sequence architecture, single nucleotide variant haplotypes, structural variation, and CpG methylation profiles. Genotype–phenotype correlations were evaluated by integrating molecular and clinical data. RESULTS: Expanded LRP12 and GIPC1 alleles in the patients showed respective single nucleotide variant patterns around repeat regions, suggesting founder haplotypes. Repeat regions essentially comprised pure CGG expansions, but exhibited size variability, even within patients. Additionally, LRP12-expanded repeats lacked flanking nucleotide sequences present in non-expanded repeats, whereas GIPC1 expanded repeats contained specific discontinued CGG patterns in their 5'-regions. Structural variations were also identified in some patients. A significant inverse correlation was observed between repeat length and age at onset in patients with GIPC1 or NOTCH2NLC expansions, while this was disturbed by higher methylation of upstream regions in patients with LRP12 expansions, leading to delayed onset. CONCLUSIONS: This study highlights gene-specific differences in CGG repeat architecture and epigenetic regulation in OPDM. Founder haplotypes, expanded allele-specific flanking sequences, and the combined effects of repeat size and methylation contribute to patient regional frequency, repeat stability, and clinical variability, respectively, offering insight into disease pathomechanism and potential therapeutic targets. - Source: PubMed
Publication date: 2026/03/27
Eura NobuyukiNoguchi SatoruOgawa MegumuSonehara KyutoYamanaka AiKurashige TakashiHayashi ShinichiroOkada YukinoriSugie KazumaNishino Ichizo