SEPTIN5, Official Symbol SEPTIN5provided by HGNC Official Full Name septin 5provided by HGNC Primary source HGNC:HGNC:9164 See related Ensembl:ENSG00000184702 MIM:602724; AllianceGenome:HGNC:9164 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H5; SEPT5; CDCREL; PNUTL1; CDCREL1; CDCREL-1; HCDCREL-1 Summary 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] Expression Biased expression in brain (RPKM 96.0), heart (RPKM 40.0) and 10 other tissues See more Orthologs mouse all