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FLASH GENE
Symbol TBC1D3 contributors: mct - updated : 03-04-2019
HGNC name TBC1 domain family, member 3
HGNC id 19031
Location 17q12      Physical location : 36.283.959 - 36.348.666
Synonym name
  • prostate cancer gene 17
  • Rab GTPase-activating protein PRC17
  • TRE17 alpha protein
  • Synonym symbol(s) PRC17, TBC1D3A, TRE17, DKFZp434P2235
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 10.88 kb     14 Exon(s)    2 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • two copies located within a cluster of chemokine genes on chromosome 17q
  • representing the more centromeric copy
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC388376 17 LOC388376 LHX1 11p13-p12 LIM homeobox protein 1 AATF 17q11.2-q12 apoptosis antagonizing transcription factor ACACA 17q21 acetyl-Coenzyme A carboxylase alpha FLJ39647 17q21.1 hypothetical protein FLJ39647 TADA2L 17q12-q21 transcriptional adaptor 2 (ADA2 homolog, yeast)-like DUSP14 17q12 dual specificity phosphatase 14 AP1GBP1 17p13.2 AP1 gamma subunit binding protein 1 DDX52 17q21.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 TCF2 17q11.2-q12 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor LOC388377 17 similar to MLL/AF10 fusion protein UPN9610I LOC388378 17 similar to TBC1 domain family, member 3; Rab GTPase-activating protein PRC17; prostate cancer gene 17 TBC1D3 17q21.2 TBC1 domain family, member 3 LOC388379 17 similar to Puromycin-sensitive aminopeptidase (PSA) MRPL45 17q21.2 mitochondrial rbosomal protein L45 LOC342663 17q21.1 similar to mKIAA1136 protein NAP4 17q21.1 Nck, Ash and phospholipase C binding protein LOC388380 17 LOC388380 KIAA1501 17q21.1-q21.2 KIAA1501 protein KIAA1684 17q21.2 likely homolog of mouse p140 LOC390789 17 similar to RIKEN cDNA E130012A19 MLLT6 17q21 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 RNF110 12-12q22 ring finger protein 110 PSMB3 2q35 proteasome (prosome, macropain) subunit, beta type, 3 PIP5K2B 17q12 phosphatidylinositol-4-phosphate 5-kinase, type II, beta FLJ20291 17q21.2 hypothetical protein FLJ20291 LOC388381 17 LOC388381 RPL23 17q12 ribosomal protein L23 LASP1 17q12-q21 LIM and SH3 protein 1 LOC388382 17 hypothetical gene supported by BC009632; BC042124 FLJ43826 17q21.2 FLJ43826 protein PLXDC1 17q21.1 plexin domain containing 1 LOC390790 17 similar to Cg7197-prov protein CACNB1 17q21 calcium channel, voltage-dependent, beta 1 subunit RPL19 17q11 ribosomal protein L19 24b2/STAC2 17q21.2 24b2/STAC2 protein LOC388383 17 similar to upstream binding protein 1 MGC15482 17q21.2 F-box protein FBL2 PPARBP 17q12-q21.1 PPAR binding protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2072 62 549 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestiveintestinesmall intestine   
     liver   moderately
    Endocrinepancreas    
    Lymphoid/Immunelymph node   highly
     spleen    
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis  predominantly
    Respiratorylung   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines breast cancer cell lines MDAMB330, ZR75-30, BT474, AlaB
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a GTPase-activating protein (GAP) catalytic core motif found in various Rab/Ypt GAPs, including RN-Tre
  • a TBC domain
  • HOMOLOGY
    intraspecies homolog to USP6
    Homologene
    FAMILY
  • peptidase family m1
  • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • involved in proteolytic events essential for cell growth and viability
  • may be acting as regulator of neuropeptide activity
  • activating RAB5 GTPase activity, which is required for its oncogenic function and playing an essentiel role in early endosome fusion
  • enhancing EGF activation of the Erk and protein kinase B/Akt pathways
  • suppressing polyubiquitination of the EGFR and the recruitment of c-Cbl
  • enhancing Ras activation in quiescent cells
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with RAB5
  • TBC1D3 recruits F-box 8 (FBXW8), the substrate recognition domain of CUL7 E3 ligase
  • serum- and growth factor-stimulated TBC1D3 ubiquitination and degradation are regulated by its interaction with CUL7-FBXW8
  • cell & other
    REGULATION
    Other enhanced by epidermal growth factor (EGF)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification --over  
    in metastatic prostate tumors and in some breast cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS