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FLASH GENE
Symbol TBC1D7 contributors: npt/mct - updated : 09-04-2014
HGNC name TBC1 domain family, member 7
HGNC id 21066
Corresponding disease
MGCPH megalencephaly and intellectual disability
Location 6p24.1      Physical location : 13.305.185 - 13.328.787
Synonym name cell migration-inducing protein 23
Synonym symbol(s) dJ257A7.3, FLJ32666, DKFZp686N2317, PIG51, TBC7
DNA
TYPE functioning gene
STRUCTURE 23.53 kb     8 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
8 - 1285 - 293 - 2007 17658474
8 - 1145 - 293 - 2007 17658474
7 - 1064 - 266 - 2007 17658474
8 - 1305 - 293 - 2007 17658474
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  highly
Urinarykidney    
cell lineage
cell lines
fluid/secretion umbilical cord blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a TBC domain
  • HOMOLOGY
    interspecies homolog to murine 2610009C09Rik
    homolog to rattus LOC361227
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • may be a GTPase activating protein for Rab proteins
  • GTPase-activating protein for RAB8A, RAB17, RAB23, involved in primary cilia formation
  • TBC1D7, and EVI5L, are involved in primary cilia formation
  • could take a part in the negative regulation of the tumor suppressor complex through facilitating the downregulation of TSC1 (Nakashima 2007)
  • involvement of TBC1D7 in the regulation of MTOR pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component TSC1-TSC2-TBC1D7 complex , TSC1-TSC2-TBC1D7 (TSC-TBC) complex is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with TSC1 protein in lung cancer cells (stabilized probably through interaction with TSC1)(Sato 2010)
  • binding protein to the TSC1-TSC2 tumor suppressor complex (Nakashima 2007)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MGCPH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in non-small cell lung cancer (NSCLC) with poor prognosis (Sato 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target Selective suppression of TBC1D7 and/or inhibition of the TBC1D7-TSC1 complex formation could be promising therapeutic strategies for lung cancer therapy (Sato 2010)
    ANIMAL & CELL MODELS