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TBC1 Domain Family, Member 7 (TBC1D7)

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TBC7; Cell migration-inducing protein 23

TBC1 Domain Family, Member 7 (TBC1D7)
CCC N987
HGNC 21066
MGI 1914296
PubMed 22795129
RGD 1307661
UniProt Q9P0N9
TBC1D7 was expressed as a 30-kD protein. Northern blot analysis detected an approximately 1.1-kb transcript with high expression in human heart and low expression in kidney, liver, and placenta. Immunofluorescence studies colocalized TBC1D7 and TSC1 to the cytoplasm when expressed in NIH3T3 cells; with subcellular fractionation, TBC1D7 localized to the cytoplasmic vesicles of the endomembrane in a complex with TSC1-TSC2.TBC1D7 interacted with the TSC1-TSC2 complex. Further studies showed that TBC1D7 interacted directly with TSC1 through the C-terminal half of the TSC1 coiled-coil domain. TBC1D7 plays a role in positive regulation of the mTOR-signaling pathway. Overexpression of TBC1D7 also increased TSC1 ubiquitination.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 7 (TBC1D7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 7 (TBC1D7) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 7 (TBC1D7) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 7 (TBC1D7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 7 (TBC1D7) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 7 (TBC1D7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 7 (TBC1D7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 7 (TBC1D7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 7 (TBC1D7) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 7 (TBC1D7) ELISA Kit Customized Service Offer
  1. "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity."Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex."Biochem. Biophys. Res. Commun. 361:218-223(2007) [PubMed] [Europe PMC] [Abstract]
  7. "TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1."Mol. Cell 47:535-546(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly."J. Med. Genet. 50:740-744(2013) [PubMed] [Europe PMC] [Abstract]
  9. "TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation and celiac disease."Hum. Mutat. 35:447-451(2014) [PubMed] [Europe PMC] [Abstract]
  10. "Crystal structure of human tbc1 domain family member 7."Submitted (JUN-2011) to the PDB data bank