SEPT6 Human
Description
Introduction to SEPT6 Human
SEPT6, or Septin-6, is a protein encoded by the SEPT6 gene in humans. It is a member of the septin family of GTPases, which are crucial for various cellular processes, including cytokinesis, cell polarity, and membrane dynamics . Septins are known for their role in forming filaments that are essential for cellular functions such as cell division and maintaining cellular structure .
Structure and Function
Septins, including SEPT6, assemble into hetero-oligomeric rod-like particles that polymerize end-to-end to form filaments. These filaments are involved in several cellular processes, including cytokinesis and the regulation of membrane curvature . The structure of septin filaments, such as those composed of SEPT2, SEPT6, and SEPT7, has been elucidated using cryo-electron microscopy, revealing a hexameric arrangement with specific interfaces that facilitate filament formation and interaction .
Key Features of SEPT6 Structure:
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Assembly: Forms hetero-oligomeric filaments with other septins.
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Function: Essential for cytokinesis and membrane dynamics.
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Interactions: Interacts with SEPT2 and other septins to form functional filaments .
Clinical Significance
SEPT6 has been implicated in several clinical contexts:
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Pediatric Acute Myeloid Leukemia (AML): A translocation involving the SEPT6 gene has been associated with a form of pediatric AML .
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Neutropenia: A de novo germline mutation in SEPT6 has been linked to severe neutropenia and dysmyelopoiesis in a newborn, highlighting its role in hematopoiesis .
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Prostate Cancer: SEPT6 has been shown to inhibit tumor growth by regulating ubiquitin-related pathways, suggesting a potential role in cancer therapy .
Research Findings
Recent studies have expanded our understanding of SEPT6's role in cellular processes:
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Septin Complexes: SEPT6 and SEPT7 complexes interact with F-actin and membrane-bound AP-3 during multivesicular body (MVB) biogenesis, highlighting their role in membrane trafficking .
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Structural Insights: The coiled-coil regions of septins, including SEPT6, exhibit both parallel and antiparallel arrangements, contributing to filament assembly and cross-linking .
Key Research Highlights:
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MVB Biogenesis: SEPT6 and SEPT7 are crucial for MVB formation by interacting with AP-3.
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Filament Assembly: SEPT6 contributes to the assembly of septin filaments through coiled-coil interactions.
Product Specs
Product Science Overview
Septin-6 is a member of the septin family of GTPases, which are essential for various cellular processes, including cytokinesis, cell polarity, and cytoskeletal organization . Septins are evolutionarily conserved proteins found in a wide range of eukaryotic organisms, from yeast to humans . They play crucial roles in maintaining cellular structure and function by forming filamentous structures that interact with other cytoskeletal components .
Septin-6, like other septins, can form hetero-oligomeric complexes and filaments that are involved in various cellular processes . These filaments can act as diffusion barriers and scaffolds for other proteins, thereby regulating the spatial organization of cellular components . Septin-6 is particularly important for the normal organization of the actin cytoskeleton and is involved in cytokinesis . It has also been implicated in the regulation of dendritic branch points and the bases of protrusions in neurons .
The septin family, including Septin-6, is essential for cytokinesis, the process by which a cell divides its cytoplasm to form two daughter cells . In addition to its role in cell division, Septin-6 is involved in various other biological processes such as spermatogenesis, exocytosis, ciliogenesis, phagocytosis, motility, and apoptosis . Alterations in the expression or function of septins, including Septin-6, have been linked to several diseases, including neurological disorders and cancers .
Septin-6 has been associated with certain types of leukemia, particularly pediatric acute myeloid leukemia, where it acts as a fusion partner with the mixed-lineage leukemia (MLL) gene . This fusion results from a reciprocal translocation between chromosomes 11 and X . Additionally, Septin-6 has been implicated in non-syndromic X-linked intellectual disability and breast scirrhous carcinoma .
