Property Summary

NCBI Gene PubMed Count 21
PubMed Score 7.70
PubTator Score 5.76

Knowledge Summary

Patent

No data available

Expression

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.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17658474 2007 Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex.
17646400 2007 Functional dissection of Rab GTPases involved in primary cilium formation.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.