Aliases for SEPT4 Gene
External Ids for SEPT4 Gene
Previous HGNC Symbols for SEPT4 Gene
Previous GeneCards Identifiers for SEPT4 Gene
This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
GeneCards Summary for SEPT4 Gene
SEPT4 (Septin 4) is a Protein Coding gene. Diseases associated with SEPT4 include Artemis Deficiency and Parkinson Disease, Late-Onset. Among its related pathways are Apoptosis Modulation and Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is SEPT5-GP1BB.
UniProtKB/Swiss-Prot for SEPT4 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.