8q11.23 (RB1CC1) copy number variation (Homo sapiens)

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11148, 96263105711GABARAPL2PTK2GABARAPATG16L1MAP3K5TRAF2WDR45BTNFRB1ULK1ATG101Autophagy initiation complexTP53PTK2BRB1CC1ATG13GABARAPL1RB16RB1CC1


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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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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

History

CompareRevisionActionTimeUserComment
127218view15:05, 21 August 2023FehrhartOntology Term : 'schizophrenia' added !
127217view15:04, 21 August 2023FehrhartOntology Term : 'disease pathway' added !
127216view15:04, 21 August 2023FehrhartModified description
127215view15:00, 21 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ATG101GeneProductENSG00000123395 (Ensembl)
ATG13GeneProductENSG00000175224 (Ensembl)
ATG16L1GeneProductENSG00000085978 (Ensembl)
Autophagy initiation complexComplexCPX-373Complex portal
GABARAPGeneProductENSG00000170296 (Ensembl)
GABARAPL1GeneProductENSG00000139112 (Ensembl)
GABARAPL2GeneProductENSG00000034713 (Ensembl)
MAP3K5GeneProductENSG00000197442 (Ensembl)
PTK2BGeneProductENSG00000120899 (Ensembl)
PTK2GeneProductENSG00000169398 (Ensembl)
RB1CC1GeneProductENSG00000023287 (Ensembl)
RB1ProteinENSG00000139687 (Ensembl)
TNFGeneProductENSG00000232810 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TRAF2GeneProductENSG00000127191 (Ensembl)
ULK1GeneProductENSG00000177169 (Ensembl)
WDR45BGeneProductENSG00000141580 (Ensembl)

Annotated Interactions

No annotated interactions

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