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FLASH GENE
Symbol CEP19 contributors: mct - updated : 26-06-2018
HGNC name centrosomal protein 19
HGNC id 28209
DNA
TYPE functioning gene
STRUCTURE 5.99 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2160 19.52 167 - 2013 24268657
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY motor/contractile
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text
  • localizes to the centrosome and primary cilia
  • basic FUNCTION
  • role for the CEP19, FGFR1OP and CEP350 module in ciliogenesis and the possible effect of disrupting their functions in ciliopathies
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RABL2B interacts with CEP19 and is recruited to the mother centriole and basal body in a CEP19-dependent manner
  • CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARMOS1
    Susceptibility to Bardet-Biedl syndrome (BBS)
    Variant & Polymorphism homozygous, truncating CEP19 c.194_195insA (p.Tyr65*) mutation associated with Bardet-Biedl syndrome (BBS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Cep19-knockout mice were morbidly obese