SEPT5

Septin-5 is a protein that in humans is encoded by the SEPT5 gene.^[5][6][7]

SEPTIN5
Identifiers
Aliases	SEPTIN5, CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, septin 5, SEPT5
External IDs	OMIM: 602724; MGI: 1195461; HomoloGene: 74446; GeneCards: SEPTIN5; OMA:SEPTIN5 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,714,503 bp[1] End 19,724,224 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.53 cM Start 18,439,252 bp[2] End 18,448,704 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right frontal lobe anterior cingulate cortex right hemisphere of cerebellum ganglionic eminence apex of heart right auricle of heart prefrontal cortex nucleus accumbens Amygdala skin of leg Top expressed in superior frontal gyrus primary visual cortex striatum of neuraxis hippocampus proper dentate gyrus of hippocampal formation granule cell olfactory bulb Hypothalamus granulocyte ileum ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding structural molecule activity GTPase activity molecular adaptor activity Cellular component cytoplasm plasma membrane cytoskeleton synaptic vesicle septin ring microtubule cytoskeleton septin complex septin filament array Biological process cell cycle regulation of synaptic vesicle exocytosis synaptic vesicle targeting cell division regulation of exocytosis mitotic cytokinesis septin ring assembly cilium assembly adult behavior social behavior cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5413 18951 Ensembl ENSG00000184702 ENSMUSG00000072214 UniProt Q99719 Q9Z2Q6 RefSeq (mRNA) NM_002688 NM_001009939 NM_213614 RefSeq (protein) NP_001009939 NP_002679 NP_998779 Location (UCSC) Chr 22: 19.71 – 19.72 Mb Chr 16: 18.44 – 18.45 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]

Interactions

SEPT5 has been shown to interact with:

• PARK2,^[8][9] and
• SEPT8^[10][11]