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FLASH GENE
Symbol CEP19 contributors: mct - updated : 26-06-2018
HGNC name centrosomal protein 19
HGNC id 28209
Corresponding disease
ARMOS1 autosomal-recessive morbid-obesity syndrome 1
Location 3q29      Physical location : -
Synonym name
  • hypothetical protein LOC84984
  • chromosome 3 open reading frame 34
  • Synonym symbol(s) MGC14126, C3orf34, MOSPGF
    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