Description : |
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. |
Conjugation : |
HIS |
Source : |
E. coli |
Tissue specificity : |
Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). |
Form : |
Lyophilised:Reconstitution with 53 μl aqua dest. |
Storage buffer : |
Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5 |
Storage : |
Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
Sequences of amino acids : |
(Amino acid sequence (Sequence determined by 5 Sequencing))PEDKQDIDKQYVGFATLPNQVHRKSV KKGFDFTLMVAGESGLGKSTLVHSLFLTDLYKDRKLLS AEERISQTVEILKHTVDIEEKGVKLKLTIVDTPGFGDAVN NTECWKPITDYVDQQFEQYFRDESGLNRKNIQDNRVHC CLYFISPFGHGLRPVDVGFMKALHEKVNIVPLIAKADC LVPSEIRKLKERIREEIDKFGIHVYQFPECDSDEDEDF KQQDRELKESAPFAVIGSNTVVEAKGQRVRGRLYPWGIVE VENQAHCDFVKLRNMLIRTHMHDLKDVTCDVHYENYRA HCIQQMTSKLTQDSRMESPIPILPLPTPDAETEKLIRM KDEELRRMQEMLQRMKQQMQDQ |
Sequence Similarities : |
Belongs to the septin family. |