Aliases for SEPT5 Gene
External Ids for SEPT5 Gene
Previous HGNC Symbols for SEPT5 Gene
Previous GeneCards Identifiers for SEPT5 Gene
This gene is a member of the septin gene 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 mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
GeneCards Summary for SEPT5 Gene
SEPT5 (Septin 5) is a Protein Coding gene. Diseases associated with SEPT5 include Velocardiofacial Syndrome. Among its related pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Chks in Checkpoint Regulation. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is SEPT4.
UniProtKB/Swiss-Prot for SEPT5 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).