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FLASH GENE
Symbol CPLANE1 contributors: mct - updated : 16-11-2022
HGNC name ciliogenesis and planar polarity effector complex subunit 1
HGNC id 25801
Corresponding disease
JBTS17 Joubert syndrome 17
OFD6 Orofaciodigital syndrome type 6
Location 5p13.2      Physical location : -
Synonym name
  • chromosome 5 open reading frame 42
  • Synonym symbol(s) Hug, OFD6, JBTS17, C5orf42
    DNA
    TYPE functioning gene
    STRUCTURE 173.71 kb     52 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 11217 - 3197 - 2014 24178751
    53 - 11302 - 3251 - 2014 24178751
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,chromatin/chromosome,kinetochore
    basic FUNCTION
  • KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy
  • having likely a role in cilia development and/or function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CPLANE1 interacts with PAFAH1B1 and influences PAFAH1B1 localization
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS17 , OFD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS