HNRNPH1 is a multifunctional RNA-binding protein that regulates post-transcriptional processes through binding to guanine-rich RNA sequences, including G-quadruplex structures 1. As a component of heterogeneous nuclear ribonucleoprotein complexes, HNRNPH1 mediates pre-mRNA alternative splicing, mRNA stability, translation, and subcellular localization 1. It regulates neuroprotective gene expression via poison exon exclusion mechanisms; specifically, HNRNPH1 mediates cold-dependent exon skipping of the RBM3 neuroprotective factor through thermosensitive G-rich motif interactions 2. HNRNPH1 orchestrates splicing with other factors like BCAS2 and SRSF3 to regulate DNA repair genes during meiosis 3. In disease pathogenesis, rare deleterious mutations in HNRNPH1 cause neurodevelopmental disorders characterized by craniofacial dysmorphism and skeletal defects 4. HNRNPH1 expression correlates with clinical prognosis in aggressive medulloblastoma group 3, where it functions as a transcriptional determinant in regulatory networks driving MYC-mediated oncogenesis 5. In colorectal cancer, PTK6-mediated phosphorylation of HNRNPH1 promotes liquid-liquid phase separation, forming biomolecular condensates that trigger NBR1 splicing-switching to activate autophagy and suppress apoptosis 6. HNRNPH1 also represents a novel recurrent driver in mantle cell lymphoma 7 and functions in extracellular vesicle RNA packaging 8, establishing it as a context-dependent regulator with significant therapeutic potential.
No tissue expression data available for this gene.