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FLASH GENE
Symbol KLHL7 contributors: mct/npt/pgu - updated : 26-08-2016
HGNC name kelch-like 7 (Drosophila)
HGNC id 15646
Corresponding disease
CISS3 cold-induced sweating syndrome-3
RP42 retinitis pigmentosa 42
Location 7p15.3      Physical location : 23.145.352 - 23.215.036
Synonym name
  • kelch (Drosophila)-like 6
  • SBBI26 protein
    • Synonym symbol(s) KLHL6, SBBI26, RP42
    DNA
    TYPE functioning gene
    STRUCTURE 69.69 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3195 75 586 - 2000 11256614
    12 - 3326 - 564 - 2000 11256614
    5 - 1032 - 166 - 2000 11256614
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Lymphoid/Immunespleen   moderately
    Reproductivemale systemtestis  moderately
    Visualeyeretina   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one BTB domain
  • one Kelch domain (also known as Kelch repeat beta-propeller domain), consisting of six Kelch motifs
  • a conserved BACK domain
    • HOMOLOGY
    interspecies ortholog to murine Klhl7
    Homologene
    FAMILY
  • BTB-Kelch subfamily
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • expressed in the nuclei of neurones (PMID :
  • KLHL7 and CUL3 co-localized in punctate structures in the cytoplasm
    • basic FUNCTION
  • implicated in ubiquitination through Cullin E3 ligases
  • may participate as an adaptor and/or chaperone in the ubiquitin-proteasome protein-degradation pathway
  • constitutes a CUL3-based E3 and the disease-causing mutation inhibits ligase activity in a dominant negative manner, which may lead to the inappropriate accumulation of the substrates targeted for proteasomal degradation
  • is a novel substrate recognition subunit of a CUL3-based Ub ligase complex
  • involved in the ubiquitination of target proteins for proteasome-mediated degradation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a dimer, assembles with CUL3 through its BTB and BACK domains, and exerts E3 activity
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • co-localizes with CUL3, and all of the domains are necessary for the punctate subcellular localization
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP42 , CISS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease
    Marker
    Therapy target
    ANIMAL & CELL MODELS