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Description for Protein SEPT5

septin 5
10 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/3)
(phosphoproteome: 1; platelet: 17; secretome: 1; undefined: 2)
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04557
    KEGG - Pathway(s):
    hsa05012
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Peanut like 1; Cell division cycle related; CDCREL; H5; CDCREL 1; Septin HCDCREL 1; Cell division control related protein 1; HCDCREL-1; PNUTL1; Septin 5 isoform 1; Septin 5 isoform 2
    Approved Symbol:
    SEPT5
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; Platelet phosphorylation sites: 2
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04100 Entrez Gene ID: 5413 OMIM ID: 602724 Swissprot Accession: Q99719;