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FLASH GENE
Symbol CFAP58 contributors: mct - updated : 06-10-2020
HGNC name cilia and flagella associated protein 58
HGNC id 26676
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 3256 103.4 872 - 2004 15164054
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  predominantly Homo sapiensAdult
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two coiled-coil (CC) domains, which are built by two or more alpha-helices that wind around each other to form a supercoil
  • HOMOLOGY
    Homologene
    FAMILY flagella-associated proteins (FAPs) family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localized at the entire flagella of control sperm and predominantly concentrated in the mid-piece
  • basic FUNCTION
  • is a testis-enrichment protein that exhibits similar localization to ODF2/Cenexin proteins and is required for the elongation of the primary cilium and sperm midpiece via modulation of the NOTCH1 signaling pathway
  • CFAP58 is necessary but not sufficient for the regulation of primary cilia, and participates in NOTCH signaling-related ciliation
  • CFAP58 plays likely a vital role in sperm flagellogenesis
  • can play important roles in cilia- and flagella-associated functions
  • could be important for outer dense fiber transportation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CFAP58 may be partially recruited by ODF2/Cenexin proteins and is indispensable for the cilia and flagellar assembly
  • CFAP58 interacts with ODF2/Cenexin and localizes in centrosome/basal body and sperm flagellum abundantly
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMAFS5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    during testicular development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cfap58-KO male mice were completely infertile