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FLASH GENE
Symbol KIAA0196 contributors: mct/shn - updated : 14-03-2013
HGNC name KIAA0196
HGNC id 28984
Corresponding disease
SPG8 spastic paraplegia 8
Location 8q24.13      Physical location : 126.036.504 - 126.104.061
Synonym name
  • WASH complex subunit strumpellin
  • strumpellin
  • Synonym symbol(s) MGC111053, SPG8
    DNA
    TYPE functioning gene
    STRUCTURE 67.56 kb     29 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D8S1832 - D8S1799 - KIAA0196 - D8S266 - D1S460 - qter
    Physical map
    LOC389683 8 LOC389683 LOC392265 8 similar to Cell division protein kinase 5 (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit) (Serine/threonine protein kinase PSSALRE) LOC389684 8 LOC389684 ZHX2 8q24.13 zinc fingers and homeoboxes 2 MGC3067 8q24.13 hypothetical protein MGC3067 MGC21654 8q24.13 unknown MGC21654 product MGC14128 8q24.13 hypothetical protein MGC14128 FLJ14825 8q24.13 hypothetical protein FLJ14825 ZHX1 8q zinc-fingers and homeoboxes 1 LOC392266 8 similar to Peroxisomal multifunctional enzyme type 2 (MFE-2) (D-bifunctional protein) (DBP) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) PRO2000 8p22 similar to Peroxisomal multifunctional enzyme type 2 (MFE-2) (D-bifunctional protein) (DBP) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) LOC392267 8 similar to inosine monophosphate dehydrogenase 1 isoform b; sWSS2608 FLJ10204 8q24.13 hypothetical protein FLJ10204 FBXO32 8q24.13 F-box only protein 32 LOC340359 8q24.13 similar to hypothetical protein 8230402K04 ANXA13 8q24.13-q24.2 annexin A13 FLJ23790 8q24.13 hypothetical protein FLJ23790 FLJ35721 8q24.13 hypothetical protein FLJ35721 FLJ32770 8q24.13 hypothetical protein FLJ32770 LOC392268 8 similar to neuropilin- and tolloid-like protein 2 precursor LOC157378 8q24.13 hypothetical protein BC017881 LOC392269 8 similar to Transcription factor SOX-2 FLJ20772 8q24.13 hypothetical protein FLJ20772 RNF139 8q24.1 ring finger 139 CDA11 8q24.13 CDA11 protein NDUFB9 8q24.21 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa MTSS1 8q22.3-q24.13 metastasis suppressor 1 LOC392270 8 similar to MRS2-like, magnesium homeostasis factor FLJ38002 8q24.13 hypothetical protein FLJ38002 SQLE 8q24.1 squalene epoxidase KIAA0196 8q24.1-q24.3 Homo sapiens KIAA0196 gene product (KIAA0196), mRNA. FLJ32440 8q24.13 hypothetical protein FLJ32440 C8FW 8q24.13 phosphoprotein regulated by mitogenic pathways LOC389685 8 LOC389685 NSE2 8q24.13 breast cancer membrane protein 101
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4173 110 1159 total brain, frontal lobe, skeletal muscle, lung, colon, rectum and stomach - 20833645
    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,cytosolic
    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
    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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG8
    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