Recombinant Human Septin-5 (SEPTIN5)

Uniprot Id

Q99719

Target Species

Human

Target Name

SEPT5

Target Full Name

Septin-5

Target Function

Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in platelet secretion.

Target Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton. Note=In platelets, found in areas surrounding alpha-granules.

Target Protein Families

TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily, Septin GTPase family

Target Tissue Specificity

Expressed at high levels in the CNS, as well as in heart and platelets (at protein level).

Target Synonyms

5 Sep; CDCrel 1; CDCREL; CDCrel-1; CDCREL1; Cell division control related protein 1; Cell division control-related protein 1; H5; HCDCREL 1; OTTHUMP00000197271; OTTHUMP00000197272; OTTHUMP00000197273; OTTHUMP00000197274; OTTHUMP00000197275; OTTHUMP00000197276; OTTHUMP00000197396; OTTHUMP00000197410; Peanut like 1; Peanut like 1 homolog; Peanut like protein 1; Peanut-like protein 1; Platelet glycoprotein Ib beta chain; PNUTL1; SEPT5; SEPT5_HUMAN; Septin 5; Septin-5

Target 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.