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FLASH GENE
Symbol CEP57 contributors: mct - updated : 06-12-2010
HGNC name centrosomal protein 57kDa
HGNC id 30794
Corresponding disease
MVA2 mosaic variegated aneuploidy syndrome 2
Location 11q21      Physical location : 95.523.641 - 95.565.854
Synonym name
  • myosin heavy chain, non muscle type B rattus homolog
  • testis-specific protein 57
  • FGF2-interacting protein
  • translokin
    • Synonym symbol(s) KIAA0092, TSP57, PIG8
    DNA
    TYPE functioning gene
    STRUCTURE 42.80 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - - 57.1 500 - 2004 12954732
    EXPRESSION
    Rna function mRNA was highly restricted to the testis and temporally regulated during testicular development
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix predominantly
     male systemtestis  specific Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiens
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • N-terminus can multimerize with the N-terminus of other Cep57 molecules
  • one myosin-like globular head domain
  • one iq domain
  • two putative nuclear localization signals (NLS1 having a role in the nuclear localization of CEP57 and NLS2)
  • C-terminus contains a second coiled-coil domain that directly binds to MTs (microtubules)
    • mono polymer homomer , dimer
    HOMOLOGY
    intraspecies homolog to smooth muscle myosin cloning sequence,weakly
    Homologene
    FAMILY
  • translokin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • colocalized with the microtubular network
  • serves as a link with its N-terminus anchored to the centriole or centromatrix and its C-terminus to Microtubule
    • basic FUNCTION
  • playing a role in cytokinesis, cell shape, and specialized functions such as secretion and capping
  • mediating the nuclear translocation and mitogenic activity of FGF2
  • potentially playing a role in the postmeiotic phase of germ cell differentiation
  • role in attaching spindle microtubules to both kinetochores and centrosomes, suggesting similar mechanisms may be used for generating these two distinct linkages in mitosis
  • pivotal role in the unconventional secretion versus nuclear translocation of FGF2
  • as a spindle microtubule-binding protein, Cep57 is also responsible for the proper organization of the spindle microtubule and localization of spindle pole focusing proteins
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • with UIMC1, form a complex in intact cells
  • NEDD1-binding centrosome component, that could function as a spindle pole- and microtubule-stabilizing factor for establishing robust spindle architecture
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FGF2 binding partner, as an intracellular mediator of FGF2 trafficking, which is essential for the nuclear translocation of the growth factor
  • four Translokin partners: sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B (through their interaction with Translokin, are involved in two exclusive complexes allowing the bidirectional trafficking of FGF2)
  • UIMC1
  • interaction with NEDD1 is necessary for the centrosome localization of CEP57
    • cell & other
  • can bundle microtubules in mammalian cells
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MVA2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cep57 expression absent in testes from vitamin A-deficient mice, which do not have any round spermatids, and was reduced in RARalpha null mice, which have lowered numbers of round spermatids in their testes