Property Summary

NCBI Gene PubMed Count 21
PubMed Score 7.70
PubTator Score 5.76

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9P0N9 E7EV96 Q2TU37 Q53F44 Q5SZL7 Q86VM8 Q96MB8
Symbols TBC7
MGCPH
PIG51

Gene

PDB

4Z6Y   5EJC   3QWL  

Gene RIF (5)

PMID Text
26893383 Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils.
24515783 DNA mutational studies allow enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome.
23687350 Study suggests that disruption of TBC1D7 causes ID but without the other typical features found in TSC.
22795129 TBC1D7 knockdown results in increased mTORC1 signaling.
20095038 Immunohistochemistry of NSCLC tumor tissue suggested an association of TBC1D7 expression with poor prognosis for NSCLC patients; Treatment of lung cancer cells using siRNA against TBC1D7, suppressed its expression and inhibited cell growth.

AA Sequence

MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPH      1 - 70
HESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKA     71 - 140
MEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRC    141 - 210
FAGCLPESSLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAID    211 - 280
LWHKHCGTPVHSS                                                             281 - 293
//

Text Mined References (22)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26893383 2016 Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
25416956 2014 A proteome-scale map of the human interactome network.
24515783 2014 TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23687350 2013 Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
22795129 2012 TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
22354992 2012 Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers.
20095038 2010 Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
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