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FLASH GENE
Symbol FAM83H contributors: mct/npt - updated : 18-01-2023
HGNC name family with sequence similarity 83, member H
HGNC id 24797
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region of FAM83H interacts with CSNK1A1
  • C-terminus of FAM83H played certain adaptive roles during evolution, containing key conserved regions critical to enamel formation and calcification , and interacting with keratins
    • HOMOLOGY
    Homologene
    FAMILY
  • FAM83 family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nuclear envelope
    text
  • FAM83H shows preferential localization to keratin filaments around the nucleus that often extend to cell-cell junctions
    • basic FUNCTION
  • required for proper dental-enamel calcification
  • FAM83H regulates likely the filamentous state of keratins
  • keratin cytoskeleton organization is regulated by FAM83H-mediated recruitment of CSNK1A1 to keratins
  • FAM83H regulates the organization of the keratin cytoskeleton and maintains the formation of desmosomes in ameloblastoma cells
  • FAM83H recruits CSNK1A1 preferentially to the keratin cytoskeleton and alternatively to the nuclear speckles
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CSNK1A1 mediates FAM83H-dependent reorganization of keratin filaments
  • TRIM29 interacts with keratins and FAM83H to regulate keratin distribution
  • FAM83H acts as a scaffold protein that recruits CSNK1A1 to the keratin cytoskeleton or to the nuclear speckles, which are storage sites for splicing factors
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIH4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in liver cancer cells, and nuclear expression of FAM83H predicted shorter survival of HCC patients
    tumoral     --over  
    keratin filament disassembly caused by overexpression of FAM83H and aberrant localization of CSNK1A1 could contribute to the progression of colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • FAM83H expression as a poor prognostic indicator of hepatocellular carcinoma (HCC) patients
    • Therapy target
    ANIMAL & CELL MODELS