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FLASH GENE
Symbol IFT57 contributors: mct - updated : 15-09-2015
HGNC name intraflagellar transport 57 homolog (Chlamydomonas)
HGNC id 17367
Location 3q13.12      Physical location : 107.879.659 - 107.941.417
Synonym name
  • huntingtin interacting protein-1 interacting protein
  • estrogen-related receptor beta like 1
  • dermal papilla derived protein 8
  • HIP1 protein interactor
  • huntingtin interacting protein-1 interacting protein
  • Synonym symbol(s) HIPPI, MHS4R2, ESRRBL1, FLJ10147, DERP8
    DNA
    TYPE functioning gene
    STRUCTURE 61.76 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3223 49 429 - 2006 17142908
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pseudo death-effector domain (pDED)
  • a myosin-like domain
  • mono polymer heteromer , dimer , trimer
    HOMOLOGY
    interspecies homolog to murine Ift57 (90.7pc)
    Homologene
    FAMILY
  • IFT57 family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • outside of cisternae and mostly in the cis-Golgi
  • colocalized with HIP1 in Golgi apparatus of neurons
  • could be transported to the nucleus by HIP1, a NLS containing nucleo-cytoplasmic shuttling protein
  • basic FUNCTION
  • cell death-promoting protein, recruiting CASP8 into an heterotrimer complex (HIP1/ESRRBL1)
  • inducing apoptosis by releasing apoptosis inducing factor and cytochrome c from mitochondria, activation of caspase-1 and caspase-3, and altering the expression of apoptotic genes and genes involved in mitochondrial complex I and II
  • might contribute to neuronal death in Huntington disease
  • ccould interact with the putative promoter sequence of caspase-1 and increased the expression of the downstream gene suggesting that it could act as transcription regulator
  • RYBP and IFT57 may functionally interact in the apoptotic processes that accompany normal murine neural development
  • multifunctional protein that is involved in the regulation of apoptosis
  • not essential for intraflagellar transport, but is required for efficient intraflagellar transport
  • transcription regulatory mechanism of REST by IFT57 may contribute to the deregulation of transcription observed in the cell model of Huntington disease
  • pro-apoptotic protein that induces CASP8 mediated apoptosis in cell
  • could act as an important transcription regulator in cell regulating a vast array of genes, particularly transcription factors and at least, in part, play a role in transcription deregulation observed in Huntington disease
  • the IFT components IFT52 and IFT57 were found to act together with IFT20 to regulate T cell antigen receptor (TCR) and transferrin receptor (TfR) recycling
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    caspase-8-dependent apoptotic pathway
    a component
  • heterodimer : HIP1/ESRRBL1
  • heterotrimer : HIP1/CASP8/ESRRBL1
  • EFT57/HIP1 heterodimer recruits procaspase-8, followed by its activation and induction of the downstream apoptotic cascade
  • intraflagellar transport proteins IFT172, IFT80, IFT57, TRAF3IP1, CLUAP1, and IFT20 form a stable tubulin-binding IFT-B2 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HIP1 binding
  • binding partner of postsynaptic scaffold protein HOMER1 (interacted specifically with HOMER1C but not with its homologue HOMER2, and protects striatal neurons from apoptosis)
  • RYBP can synergize with IFT57 to enhance CASP8-mediated apoptosis and also appears to be essential for IFT57-mediated apoptosis
  • interaction with IFT20 (IFT20 requires IFT57 to associate with the IFT particle and IFT57 and/or IFT20 mediate kinesin II dissociation)
  • REST/NRSF) is a new transcriptional target of IFT57 (could bind to the promoter of REST and increased its expression in neuronal as well as non-neuronal cells)
  • IFT57-TP53 interaction was necessary for IFT57 mediated up-regulation of Caspase1 gene
  • IFT20, a component of the intraflagellar transport system, controls TCR recycling to the immune synapse (IS) as a complex with IFT57 and IFT88
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ift57 zebrafish mutants formed short outer segments with reduced amounts of opsin