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FLASH GENE
Symbol POC1B contributors: mct - updated : 05-09-2015
HGNC name POC1 centriolar protein homolog B (Chlamydomonas)
HGNC id 30836
Corresponding disease
CORD20 cone-rod dystrophy 20
Location 12q21.33      Physical location : 89.813.500 - 89.919.777
Synonym name
  • WD repeat-containing protein 51B
    • Synonym symbol(s) PIX1, TUWD12, WDR51B
    DNA
    TYPE functioning gene
    STRUCTURE 106.54 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3251 - 478 - 2009 19109428
    11 - 3232 - 436 - 2009 19109428
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal WD40 domain (amino acids 1–297)
  • POC1B-SR spanned amino acids 298–426 and did not hold any known domains 6)
  • C-terminal coiled-coil (amino acids 427–478)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • localize to centrosomes and associate with microtubules
  • cytosolic localization with enrichment at the basal body region
    • basic FUNCTION
  • POC1A and POC1B are WD40 microtubule-associated proteins that colocalize with centrosomes in human cells
  • POC1A and POC1B are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes
  • involved in early steps of centriole duplication as well as in the later steps of centriole length control
  • required for primary ciliogenesis, and novel roles in centriole stability
  • is necessary for ciliogenesis, and typical ciliopathy-associated developmental defects (e.g., curved body axis, kidney cysts, and laterality defects)
  • basal body protein photoreceptor module that contains POC1B and FAM161A and is required for photoreceptor homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FAM161A is a binary interaction partner of POC1B
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD20
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    loss of Poc1b in zebrafish resulted in early-onset retinal dysfunction (pMID: 25018096)