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FLASH GENE
Symbol SEPT5 contributors: mct/ - updated : 09-03-2011
HGNC name septin 5
HGNC id 9164
Location 22q11.21      Physical location : 19.701.986 - 19.712.297
Synonym name
  • cell division cycle-related 1
  • peanut-like 1 (Drosophila)
  • Synonym symbol(s) H5, CDCREL1, CDCREL, PNUTL1, HCDCREL-1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene
    text
  • overlapping in its 3'utr, the 5'region of GP1BB
  • PNUTL1 and GP1BB are encoded on the same DNA stand, overlapping with the same transcriptional orientation
  • STRUCTURE 10.31 kb     12 Exon(s)
    regulatory sequence alternative promoter
    MAPPING cloned Y linked N status provisional
    Map cen - BFAR - HIRA - UFD1L - D22S980 - SEPT5 /GP1BB GP1BB - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 polyA site 2090 42.7 369 - 2004 15214843
    also called PNUTL1 variant 1
    - polyA site 2284 - 346 brain, platelets 2004 15214843
    also called PNUTL1 variant 2
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Nervousbrainlimbic systemhippocampus predominantly Homo sapiens
     brain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Muscularstriatumcardiac  
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    life cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a P-loop nucleotide binding
  • GTPase motif
  • HOMOLOGY
    interspecies homolog to Drosophila melanogaster peanut-like gene 1
    homolog to murine Sept5
    homolog to C.elegans w09c5.2
    intraspecies homolog to PNUTL2
    Homologene
    FAMILY
  • septin family
  • GTP binding protein/GTPase family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text localized surrounding alpha-granules
    basic FUNCTION
  • involved in myeloid leukemogenesis
  • regulating cytoskeletal organization and cytokinesis
  • may be playing a functional role in platelet granular secretion
  • playing a role in the development of proliferative retinal membranes
  • CELLULAR PROCESS cell cycle, division
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cell shape and cell size control; cytoskeletal organization
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP binding
  • protein
  • binding to SEPT8
  • interacting with KIDINS220
  • interaction partner of SEPT11
  • cell & other
    REGULATION
    Other degradated by PARK2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in DiGeorge syndrome and velocardiofacial syndromes
    tumoral fusion      
    fused with HRX (MLL)with t(11;22)(q23;q11.2)in adulte myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • both Sept4 and Sept5 null mice had similar auditory functions to their wild type littermates