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]

Function: Filament-forming cytoskeletal GTPase

By similarity. May play a role in cytokinesis

Potential. May play a role in platelet secretion

By similarity.

Subunit structure: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation

By similarity. Interacts with SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts with PARK2. This interaction leads to SEPT5 ubiquitination and degradation

By similarity. Ref.10 Ref.11

Subcellular location: Cytoplasm

By similarity. Cytoplasm › cytoskeleton

By similarity. Note: In platelets, found in areas surrounding alpha-granules.

Tissue specificity: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). Ref.10 Ref.13

Post-translational modification: In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen. Ref.11

Miscellaneous: In a heterologous system, SEPT5 overexpression has been shown to exert dopamine-dependent neurotoxicity. As wild-type PARK2, but not familial-linked PARK2 mutants, ubiquitinates mouse SEPT5 and promotes its degradation, it has been sugested that a deficiency in SEPT5 degradation may contribute to the development of early onset Parkinson disease 2 (PARK2).

Sequence similarities: Belongs to the septin family.