SEPT5 Antibody – Mouse Monoclonal

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]

SEPT5: Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in platelet secretion. Belongs to the septin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Cell cycle regulation; Vesicle; Cytoskeletal

Chromosomal Location of Human Ortholog: 22q11.21

Cellular Component: synaptic vesicle; cytoskeleton; plasma membrane; terminal button; cell cortex

Molecular Function: GTPase activity; protein binding; GTP binding; structural molecule activity

Biological Process: regulation of exocytosis; metabolic process; cytokinesis; synaptic vesicle targeting