| Tbio | TBC1 domain family member 7 |
Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Comments
| Disease | Target Count |
|---|---|
| Large head (disorder) | 3 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2798 | 3.7e-14 |
| ovarian cancer | 8491 | 5.3e-06 |
| tuberculosis and treatment for 3 months | 327 | 1.4e-05 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 1.5e-03 |
| invasive ductal carcinoma | 2950 | 3.7e-03 |
| primary pancreatic ductal adenocarcinoma | 1271 | 8.0e-03 |
| acute myeloid leukemia | 785 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hantavirus pulmonary syndrome | 7 | 3.411 | 1.7 |
| Intellectual disability | 573 | 3.179 | 1.6 |
| Disease | Target Count |
|---|---|
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 1 |
| Disease | log2 FC | p |
|---|---|---|
| primary pancreatic ductal adenocarcinoma | 1.020 | 8.0e-03 |
| tuberculosis and treatment for 3 months | -1.300 | 1.4e-05 |
| non-small cell lung cancer | 1.213 | 3.7e-14 |
| intraductal papillary-mucinous carcinoma... | 1.500 | 1.5e-03 |
| invasive ductal carcinoma | 1.200 | 3.7e-03 |
| acute myeloid leukemia | -1.100 | 3.4e-02 |
| ovarian cancer | 2.400 | 5.3e-06 |
| 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. |
MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPH 1 - 70 HESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKA 71 - 140 MEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRC 141 - 210 FAGCLPESSLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAID 211 - 280 LWHKHCGTPVHSS 281 - 293 //
| 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. |
