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FLASH GENE
Symbol TUBGCP6 contributors: mct/npt - updated : 11-12-2019
HGNC name tubulin, gamma complex associated protein 6
HGNC id 18127
Corresponding disease
MCCRP1 microcephaly and chorioretinopathy, autosomal recessive, 1
Location 22q13.33      Physical location : 50.656.117 - 50.683.400
Synonym name gamma-tubulin complex component 6
Synonym symbol(s) GCP6, KIAA1669, DJ402G11.6, GCP-6, MCCRP, MCCRP1, MCPHCR
DNA
TYPE functioning gene
STRUCTURE 27.33 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
25 - 6066 200.4 1819 - 2012 22302995
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Nervousplexus choroid   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an hydrophobic motif is present in the N-terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • GCP family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • apical in normal enterocytes (Oriolo 2007)
  • basic FUNCTION
  • necessary for microtublule nucleation at the centrosome
  • participates in the attachment of microtubule-organizing centers to intermediate filaments in epithelial cells and is among the factors that determine the peculiar architecture of microtubules in polarized epithelia (Oriolo 2007)
  • TUBGCP6 is a target of PLK4 in centriole biogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TUBGCP6 interacts with and is phosphorylated by PLK4
  • recognition of gamma-tubulin ring complex integrity is mediated by MZT1, which binds not only to the TUBGCP3 subunit as previously shown, but cooperatively also to other GCPs through a conserved hydrophobic motif present in the N-termini of TUBGCP2, TUBGCP3, TUBGCP5 and TUBGCP6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCCRP1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS