SEPT5

Septin-5 is a is_associated_with::protein that in humans is encoded by the SEPT5 is_associated_with::gene.

Function
This gene is a member of the is_associated_with::septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in is_associated_with::yeast, is_associated_with::Drosophila, and is_associated_with::mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs is_associated_with::cytokinesis and results in large is_associated_with::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. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form results from the utilization of a non-consensus polyA signal (AACAAT). In the absence of polyadenylation from this imperfect site, the consensus polyA signal of the downstream neighboring gene (GP1BB; platelet glycoprotein Ib) is used, resulting in the 3.5 kb transcript. An alternatively spliced transcript variant with a different 5' end has also been identified, but its full-length nature has not been completely determined.

Interactions
SEPT5 has been shown to interact with:
 * PARK2, and
 * is_associated_with::SEPT8