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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
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 9.85 kb     5 Exon(s)
regulatory sequence Promoter
Binding site
text structure
  • MYC binds to the promotor of FAM83H and MYC promotes the transcription of FAM83H
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5632 127 1179 - 2021 34657752
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtooth   
    Reproductivefemale systemovary  highly
     female systemuteruscervix highly
    Urinarybladder   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveameloblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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