background:
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. May play a role in cytokinesis (Potential). May play a role in platelet secretion.
Subunit:
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. Interacts with SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts with PARK2. This interaction leads to SEPT5 ubiquitination and degradation.
Subcellular Location:
Cytoplasm. Cytoplasm, cytoskeleton. Note=In platelets, found in areas surrounding alpha-granules
Tissue Specificity:
Expressed at high levels in the CNS, as well s in heart and platelets (at protein level).
Post-translational modifications:
In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen.
Similarity:
Belongs to the septin family.
Database links:
UniProtKB/Swiss-Prot: Q99719.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
SEPTIN(SEPT)家族是细胞骨架蛋白的一种，具有GTPase的活性。经研究发現，SEPT参与细胞的分裂、细胞膜的运输以及构成细胞骨架。SEPTIN5又称细胞骨架蛋白SEPT5。
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