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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
Corresponding disease
MMAFS5 multiple morphological abnormalities of the sperm flagella syndrome 5
Location 10q25.1      Physical location : -
Synonym name
  • chromosome 10 open reading frame 80
  • hypothetical protein LOC159686
  • leucine-rich repeat-containing protein C10orf80
  • coiled-coil domain containing 147
  • cancer/testis antigen 134
  • cenexin 1
  • outer dense fiber of sperm tails, 84-kD
  • sperm tail structural protein
    Synonym symbol(s) C10orf80, FLJ35908, bA554P13.1, RP11-554P13.1, bA127L20.4, bA127L20.5, CCDC147
    DNA
    TYPE functioning gene
    STRUCTURE 101.30 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    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