Sequence of this protein is as follows: MSTGLRYKSK LATPEDKQDI DKQYVGFATL PNQVHRKSVK KGFDFTLMVA GESGLGKSTL VHSLFLTDLY KDRKLLSAEE RISQTVEILK HTVDIEEKGV KLKLTIVDTP GFGDAVNNTE CWKPITDYVD QQFEQYFRDE SGLNRKNIQD NRVHCCLYFI SPFGHGLRPV DVGFMKALHE KVNIVPLIAK ADCLVPSEIR KLKERIREEI DKFGIHVYQF PECDSDEDED FKQQDRELKE SAPFAVIGSN TVVEAKGQRV RGRLYPWGIV EVENQAHCDF VKLRNMLIRT HMHDLKDVTC DVHYENYRAH CIQQMTSKLT QDSRMESPIP ILPLPTPDAE TEKLIRMKDE ELRRMQEMLQ RMKQQMQDQ
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. 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.
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Protein Aliases: CDCrel-1; cell division control related protein 1; Cell division control-related protein 1; peanut-like 1; Peanut-like protein 1; platelet glycoprotein Ib beta chain; Septin-5
Gene Aliases: CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1; PNUTL1; SEPT5; SEPTIN5
UniProt ID: (Human) Q99719
Entrez Gene ID: (Human) 5413
Molecular Function: cytoskeletal protein