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FLASH GENE
Symbol KLHL41 contributors: mct - updated : 14-01-2014
HGNC name kelch-like family member 41
HGNC id 16905
Location 2q31.1      Physical location : -
Synonym name
  • Kelch-related protein 1
  • sarcomeric muscle protein
  • sarcosin
  • Kel-like protein 23
  • kelch repeat and BTB (POZ) domain containing 10
    • Synonym symbol(s) KRP1, SARCOSIN, KBTBD10
    DNA
    TYPE functioning gene
    STRUCTURE 16.56 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2472 - 606 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    muscularsarcomere    
    Respiratorydiaphragm     Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one BTB/POZ domain
  • five Kelch domains
    • HOMOLOGY
    Homologene
    FAMILY family of BTB-Kelch domain-containing proteins
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleolus
    text
  • localizes over (but not within) I bands, likely in association with the terminal cisternae of the sarcomplasmic reticulum (SR) (PMID;
    • basic FUNCTION
  • required for pseudopod elongation in transformed cells
  • has a role in cytoskeletal organization and cell motility
  • role in skeletal muscle development and differentiation
  • critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in nemaline myopathy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • through Kelch repeats interact directly with LASP1 in membrane ruffles at the tips of pseudopodia, where both proteins are necessary for pseudopodial elongation
  • interacts with nebulin, NRAP (Nebulin-related anchoring protein), and actin in skeletal muscle and promotes the assembly of myofibrils
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS