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FLASH GENE
Symbol CEP135 contributors: mct - updated : 20-11-2015
HGNC name centrosomal protein 135kDa
HGNC id 29086
Corresponding disease
MCPH8 microcephaly primary 8
Location 4q12      Physical location : 56.815.036 - 56.899.526
Synonym name
  • centrosomal protein 4
  • cDNA sequence, expressed in brain, >100kDa, related to non muscle myosin heavy chain B MYH10
  • Synonym symbol(s) KIAA0635, CEP4, FLJ13621, MCPH8, BLD10
    DNA
    TYPE functioning gene
    STRUCTURE 84.49 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 5687 133.4 1140 - 2008 18851962
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a core centrosome protein with coiled-coil domains
  • C-terminal domain for binding CEP250, and DCTN2
  • HOMOLOGY
    interspecies ortholog to Drosophila Bld10
    intraspecies homolog to non muscle myosin heavy chain B MYH10
    Homologene
    FAMILY
  • CEP135/TSGA10 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • located around the centriolar surface as well as within the proximal lumen of the centrioles
  • in the proximal centriole-like
  • present at the centrosome throughout the cell cycle
  • basic FUNCTION
  • CEP135 and DCTN2 play an important role in assembly and maintenance of functional microtubule-organizing centers
  • play a scaffolding role during centriole biogenesis and acts as a platform protein for CEP250 at the centriole
  • centriolar protein that also localizes to the spermatid basal body
  • has a role in maintaining the structure and organization of the centrosome and of microtubules
  • essential components of the centrosome in particular for a normal neurogenesis
  • role in centriole biogenesis, and at the centrosome as microtubule-organizing center
  • conserved player in centriole and flagella biogenesis, can bind and stabilize MTs and is required for the early steps of central MT pair formation
  • acts to maintain the structural integrity of basal bodies against the forces of ciliary beating in addition to its separable role in basal body assembly
  • is required for the structural integrity of centrioles in proliferating vertebrate cells, a role that also limits centrosome amplification in S-phase-arrested cells
  • since CEP135 is implicated in primary microcephaly, perturbed centrosome asymmetry could potentially contribute to this rare neurodevelopmental disease
  • CEP135 is required for the recruitment of WRAP73 to centrioles
  • WRAP73 and CEP135 have strongly overlapping functions in ciliogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • with CENPJ formed a core structure within the proximal lumen of both parental and nascent centrioles
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between CEP135 and CEP250, two core centriolar proteins
  • interaction partners of CEP135, the 50 kDa subunit of the dynactin complex (DCTN2) and CEP250, have their binding sites in the C-terminal domain of CEP135
  • directly interacts with SASS6 via its C-terminus and with MTs via its N-terminus
  • also interacts with another microcephaly protein CENPJ via its N terminal domain
  • CEP120 and SPICE1 are required to localize CEP135 to procentrioles
  • phosphorylation of CEP250 perturbs interaction with the core centriolar protein, CEP135, and interaction of endogenous CEP250 and CEP135 proteins is specifically lost in mitosis
  • CEP135 physically links to SASS6 near the site of microtubule nucleation and binds to CENPJ for triplet microtubule formation
  • WRAP73 interacts with the satellite proteins SSX2IP and PCM1 as well as the centriolar proximal end component CEP135
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS