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FLASH GENE
Symbol WASHC5 contributors: mct/shn - updated : 31-03-2021
HGNC name WASH complex subunit 5
HGNC id 28984
Corresponding disease
SPG8 spastic paraplegia 8
Location 8q24.13      Physical location : -
Synonym name
  • WASH complex subunit strumpellin
  • strumpellin
  • KIAA0196
    • Synonym symbol(s) MGC111053, SPG8, KIAA0196, RTSC, RTSC1
    DNA
    TYPE functioning gene
    STRUCTURE 67.56 kb     29 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D8S1832 - D8S1799 - KIAA0196 - D8S266 - D1S460 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4173 134 1159 total brain, frontal lobe, skeletal muscle, lung, colon, rectum and stomach 2004 14603436
    28 - 3829 110 1011 - 2004 14603436
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Homo sapiensAdultNM_014846
     intestinelarge intestinecolon highly Homo sapiensAdultNM_014846
     liver   moderately Homo sapiensAdultNM_014846
    Endocrinepancreas   moderately Homo sapiensAdultNM_014846
    Lymphoid/Immunespleen   moderately Homo sapiensAdultNM_014846
     thymus   moderately Homo sapiensAdultNM_014846
    Nervousbrainforebraincerebral lobefrontal lobehighly Homo sapiensAdultNM_014846
     brainforebraincerebral lobetemporal lobemoderately Homo sapiensAdultNM_014846
     brainforebraincerebral lobeparietal lobehighly Homo sapiensAdultNM_014846
     brainforebraincerebral cortex highly Homo sapiensAdultNM_014846
     brainmidbrainsubstantia nigra highly Homo sapiensAdultNM_014846
     brainforebraincerebral cortexfrontal cortexmoderately Homo sapiensAdultNM_014846
     brainforebraincerebral cortexoccipital cortexmoderately Homo sapiensAdultNM_014846
     brainhindbraincerebellum moderately Homo sapiensAdultNM_014846
     brainhindbrainpons moderately Homo sapiensAdultNM_014846
     brainhindbrainmedulla oblongata moderately Homo sapiensAdultNM_014846
     brainbasal nucleicorpus callosum moderately Homo sapiensAdultNM_014846
     braindiencephalonthalamus moderately Homo sapiensAdultNM_014846
     brainbasal nucleicaudate nucleus moderately Homo sapiensAdultNM_014846
     spinal cord   highly Homo sapiensAdultNM_014846
    Reproductivefemale systemovary  lowly Homo sapiensAdultNM_014846
     female systemplacenta  highly Homo sapiensAdultNM_014846
     male systemtestis  moderately Homo sapiensAdultNM_014846
     male systemprostate  moderately Homo sapiensAdultNM_014846
    Respiratorylung   highly Homo sapiensAdultNM_014846
    Urinarykidney   moderately Homo sapiensAdultNM_014846
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately Homo sapiensAdultNM_014846
    Nervouscentral    Homo sapiensAdultNM_014846
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiensAdultNM_014846
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • A N-terminal domain, a ‘spectrin-like’ repeat domain (five repeats), and a C-terminal domain
    • secondary structure two helices from the 1,159-aa protein are shown, including amino acids 614-634 in one -helix and amino acids 662-672 from a nearby -helix in the antiparallel direction
    HOMOLOGY
    interspecies ortholog to KIAA0196, Pan troglodytes
    Homologene
    FAMILY
  • strumpellin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • cytosolic and endoplasmic reticulum
  • Co-localization with the pre-synaptic glycoprotein synaptophysin
  • cytoplasmic and dendritic strumpellin staining pattern in pyramidal neurons
    • basic FUNCTION
  • likely to be involved in docking with one of the cytoskeletal spectrin repeats, which could help in protein localization or signal transduction
  • has a pathogenic role in prostate cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • is a core component of the Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex that activates actin nucleation at endosomes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WASH complex including KIAA1033, KIAA0592, WASH, CP alpha, CP beta, and “coiled-coil domain containing 53
  • both KIAA0196 and KIAA1033 bind to alpha-appendage of the adaptor protein complex 2 (AP2), which acts as an interaction hub for accessory proteins in endocytosis mediated by clathrin-coated vesicle
  • FKBP15
  • valosin-containing protein (VCP)binding partner
  • CAV1, a key component of caveolae, interacted with WASHC5 in cells, and WASHC5 inhibited the lysosomal degradation of CAV1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG8 , RSTC1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    amplified and overexpressed in prostate cancer
    tumoral        
    putative progression markers for prostate cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Morpholino oligonucleotide knockdown of the KIAA0196 protein ortholog in zebrafish resulted in an enlarged heart cavity, along with a curly-tail phenotype that severely impaired the ability of the fish to swim properly
  • Overexpression as well as knockdown of strumpellin in prostate cancer cells affected neither cell proliferation nor invasion
  • Strumpellin knockdown causes a marked reduction of axonal growth in human SH-SY5Y neuroblastoma cells
  • Strumpellin knockdown in zebrafish induces cardiac contractile dysfunction, pericardial oedema attributed to a reduction of systolic heart function, and loss of motoneuron formation
  • Strumpellin morphant zebrafish embryos displayed severe skeletal muscle dysfunction