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FLASH GENE
Symbol HYLS1 contributors: mct/npt - updated : 06-01-2010
HGNC name hydrolethalus syndrome 1
HGNC id 26558
Corresponding disease
HYLS1 hydrolethalus syndrome
Location 11q24.2      Physical location : 125.753.508 - 125.770.540
Synonym symbol(s) HLS, FLJ32915
DNA
TYPE functioning gene
STRUCTURE 17.03 kb     4 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 1829 34.2 299 - Mee (2005)
encoding the same protein than variant 2
3 splicing 2073 34.2 299 - Mee (2005)
  • differing in the 5' UTR compared to variant 1
  • encoding the same protein than variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Lymphoid/Immunethymus   highly
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • HYLS1 family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text localization to centrioles (Dammermann 2009)
    basic FUNCTION
  • plays an essential role in cilia formation (Dammermann 2009)
  • required for the apical targeting/anchoring of centrioles at the plasma membrane but not for the intraflagellar transport-dependent extension of the ciliary axoneme (Dammermann 2009)
  • dispensable for centriole duplication, centrosome function in cell division, and embryonic viability (Dammermann 2009)
  • contributes to basal body organization at the cell surface and helps initiate cilia formation (Dammermann 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYLS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS