8q11.23 (RB1CC1) copy number variation (WP5412)

Homo sapiens

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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).

Authors

Friederike Ehrhart , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

regulatory pathway autophagy pathway disease pathway

Disease Ontology

schizophrenia

Participants
Query Drugst.One

Label Type Compact URI Comment
PTK2B GeneProduct ensembl:ENSG00000120899
ATG101 GeneProduct ensembl:ENSG00000123395
TP53 GeneProduct ensembl:ENSG00000141510
TNF GeneProduct ensembl:ENSG00000232810
TRAF2 GeneProduct ensembl:ENSG00000127191
GABARAPL2 GeneProduct ensembl:ENSG00000034713
RB1 GeneProduct ensembl:ENSG00000139687
RB1CC1 GeneProduct ensembl:ENSG00000023287
ULK1 GeneProduct ensembl:ENSG00000177169
MAP3K5 GeneProduct ensembl:ENSG00000197442
GABARAP GeneProduct ensembl:ENSG00000170296
ATG16L1 GeneProduct ensembl:ENSG00000085978
ATG13 GeneProduct ensembl:ENSG00000175224
PTK2 GeneProduct ensembl:ENSG00000169398
WDR45B GeneProduct ensembl:ENSG00000141580
GABARAPL1 GeneProduct ensembl:ENSG00000139112
RB1 Protein ensembl:ENSG00000139687

References

  1. Suppression of Pyk2 kinase and cellular activities by FIP200. Ueda H, Abbi S, Zheng C, Guan JL. J Cell Biol. 2000 Apr 17;149(2):423–30. PubMed Europe PMC Scholia
  2. Regulation of focal adhesion kinase by a novel protein inhibitor FIP200. Abbi S, Ueda H, Zheng C, Cooper LA, Zhao J, Christopher R, et al. Mol Biol Cell. 2002 Sep;13(9):3178–91. PubMed Europe PMC Scholia
  3. RB1CC1 suppresses cell cycle progression through RB1 expression in human neoplastic cells. Kontani K, Chano T, Ozaki Y, Tezuka N, Sawai S, Fujino S, et al. Int J Mol Med. 2003 Nov;12(5):767–9. PubMed Europe PMC Scholia
  4. Role of FIP200 in cardiac and liver development and its regulation of TNFalpha and TSC-mTOR signaling pathways. Gan B, Peng X, Nagy T, Alcaraz A, Gu H, Guan JL. J Cell Biol. 2006 Oct 9;175(1):121–33. PubMed Europe PMC Scholia
  5. p53 inhibits autophagy by interacting with the human ortholog of yeast Atg17, RB1CC1/FIP200. Morselli E, Shen S, Ruckenstuhl C, Bauer MA, Mariño G, Galluzzi L, et al. Cell Cycle. 2011 Aug 15;10(16):2763–9. PubMed Europe PMC Scholia
  6. ATG8 family proteins act as scaffolds for assembly of the ULK complex: sequence requirements for LC3-interacting region (LIR) motifs. Alemu EA, Lamark T, Torgersen KM, Birgisdottir AB, Larsen KB, Jain A, et al. J Biol Chem. 2012 Nov 16;287(47):39275–90. PubMed Europe PMC Scholia
  7. Interaction between FIP200 and ATG16L1 distinguishes ULK1 complex-dependent and -independent autophagy. Gammoh N, Florey O, Overholtzer M, Jiang X. Nat Struct Mol Biol. 2013 Feb;20(2):144–9. PubMed Europe PMC Scholia
  8. FIP200 regulates targeting of Atg16L1 to the isolation membrane. Nishimura T, Kaizuka T, Cadwell K, Sahani MH, Saitoh T, Akira S, et al. EMBO Rep. 2013 Mar 1;14(3):284–91. PubMed Europe PMC Scholia
  9. WIPI2 links LC3 conjugation with PI3P, autophagosome formation, and pathogen clearance by recruiting Atg12-5-16L1. Dooley HC, Razi M, Polson HEJ, Girardin SE, Wilson MI, Tooze SA. Mol Cell. 2014 Jul 17;55(2):238–52. PubMed Europe PMC Scholia
  10. Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. Degenhardt F, Priebe L, Meier S, Lennertz L, Streit F, Witt SH, et al. Transl Psychiatry. 2013 Nov 26;3(11):e326. PubMed Europe PMC Scholia
  11. WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. Bakula D, Müller AJ, Zuleger T, Takacs Z, Franz-Wachtel M, Thost AK, et al. Nat Commun. 2017 May 31;8:15637. PubMed Europe PMC Scholia