SEPT5 Antibody – Rabbit Polyclonal

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: Vesicle; Cytoskeletal; Cell cycle regulation; Hydrolase

Chromosomal Location of Human Ortholog: 22q11.21

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

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

Biological Process: cytokinesis; positive regulation of exocytosis; regulation of exocytosis; synaptic vesicle targeting