8q11.23 (RB1CC1) copy number variation (Homo sapiens)
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Description
RB1CC1, located on chromosome 8q11.23, is mainly involved in autophagy regulation. A loss of function or mutation in the gene can result in increased risk for schizophrenia (Degenhardt et al. 2013).
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Ontology Terms
Bibliography
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- Degenhardt F, Priebe L, Meier S, Lennertz L, Streit F, Witt SH, Hofmann A, Becker T, Mössner R, Maier W, Nenadic I, Sauer H, Mattheisen M, Buizer-Voskamp J, Ophoff RA, Rujescu D, Giegling I, Ingason A, Wagner M, Delobel B, Andrieux J, Meyer-Lindenberg A, Heinz A, Walter H, Moebus S, Corvin A, Rietschel M, Nöthen MM, Cichon S; ''Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets.''; Transl Psychiatry, 2013 PubMed Europe PMC Scholia
- Gammoh N, Florey O, Overholtzer M, Jiang X; ''Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex-dependent and -independent autophagy.''; Nat Struct Mol Biol, 2013 PubMed Europe PMC Scholia
- Alemu EA, Lamark T, Torgersen KM, Birgisdottir AB, Larsen KB, Jain A, Olsvik H, Øvervatn A, Kirkin V, Johansen T; ''ATG8 family proteins act as scaffolds for assembly of the ULK complex: sequence requirements for LC3-interacting region (LIR) motifs.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
- Nishimura T, Kaizuka T, Cadwell K, Sahani MH, Saitoh T, Akira S, Virgin HW, Mizushima N; ''FIP200 regulates targeting of Atg16L1 to the isolation membrane.''; EMBO Rep, 2013 PubMed Europe PMC Scholia
- Abbi S, Ueda H, Zheng C, Cooper LA, Zhao J, Christopher R, Guan JL; ''Regulation of focal adhesion kinase by a novel protein inhibitor FIP200.''; Mol Biol Cell, 2002 PubMed Europe PMC Scholia
- Morselli E, Shen S, Ruckenstuhl C, Bauer MA, Mariño G, Galluzzi L, Criollo A, Michaud M, Maiuri MC, Chano T, Madeo F, Kroemer G; ''p53 inhibits autophagy by interacting with the human ortholog of yeast Atg17, RB1CC1/FIP200.''; Cell Cycle, 2011 PubMed Europe PMC Scholia
- Ueda H, Abbi S, Zheng C, Guan JL; ''Suppression of Pyk2 kinase and cellular activities by FIP200.''; J Cell Biol, 2000 PubMed Europe PMC Scholia
- Bakula D, Müller AJ, Zuleger T, Takacs Z, Franz-Wachtel M, Thost AK, Brigger D, Tschan MP, Frickey T, Robenek H, Macek B, Proikas-Cezanne T; ''WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.''; Nat Commun, 2017 PubMed Europe PMC Scholia
- Dooley HC, Razi M, Polson HE, Girardin SE, Wilson MI, Tooze SA; ''WIPI2 links LC3 conjugation with PI3P, autophagosome formation, and pathogen clearance by recruiting Atg12-5-16L1.''; Mol Cell, 2014 PubMed Europe PMC Scholia
- Kontani K, Chano T, Ozaki Y, Tezuka N, Sawai S, Fujino S, Saeki Y, Okabe H; ''RB1CC1 suppresses cell cycle progression through RB1 expression in human neoplastic cells.''; Int J Mol Med, 2003 PubMed Europe PMC Scholia
- Gan B, Peng X, Nagy T, Alcaraz A, Gu H, Guan JL; ''Role of FIP200 in cardiac and liver development and its regulation of TNFalpha and TSC-mTOR signaling pathways.''; J Cell Biol, 2006 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| ATG101 | GeneProduct | ENSG00000123395 (Ensembl) ![]() | |
| ATG13 | GeneProduct | ENSG00000175224 (Ensembl) ![]() | |
| ATG16L1 | GeneProduct | ENSG00000085978 (Ensembl) ![]() | |
| Autophagy initiation complex | Complex | CPX-373 (Complex Portal) ![]() | Complex portal |
| GABARAP | GeneProduct | ENSG00000170296 (Ensembl) ![]() | |
| GABARAPL1 | GeneProduct | ENSG00000139112 (Ensembl) ![]() | |
| GABARAPL2 | GeneProduct | ENSG00000034713 (Ensembl) ![]() | |
| MAP3K5 | GeneProduct | ENSG00000197442 (Ensembl) ![]() | |
| PTK2B | GeneProduct | ENSG00000120899 (Ensembl) ![]() | |
| PTK2 | GeneProduct | ENSG00000169398 (Ensembl) ![]() | |
| RB1CC1 | GeneProduct | ENSG00000023287 (Ensembl) ![]() | |
| RB1 | Protein | ENSG00000139687 (Ensembl) ![]() | |
| TNF | GeneProduct | ENSG00000232810 (Ensembl) ![]() | |
| TP53 | GeneProduct | ENSG00000141510 (Ensembl) ![]() | |
| TRAF2 | GeneProduct | ENSG00000127191 (Ensembl) ![]() | |
| ULK1 | GeneProduct | ENSG00000177169 (Ensembl) ![]() | |
| WDR45B | GeneProduct | ENSG00000141580 (Ensembl) ![]() |
Annotated Interactions
No annotated interactions
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