7q11.23 distal copy number variation (Homo sapiens)

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102, 581413123, 11461, 937Unknown functionStress granuleformationChaperonechr7:75,138,294SRRM3RHBDD2EPB41L3PORNADP+NADPHHSPB1SRCRB4DSNORA14APTPMT1TMEM120AApoptosisMDH2RAF1reduced [cytochrome P450]ZP2MIR4651LMNAZP1NAD+oxidized [cytochrome P450]TMEM120BDAPK2ZP3KIF1CYWHAGSFNSTYXL1(S)-malateG3BP1chr7:76,064,41244OxaloacetateNADH666Unknown functionUnknown function14


Description

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Ontology Terms

 

Bibliography

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  1. Autieri MV, Carbone CJ; ''14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells.''; DNA Cell Biol, 1999 PubMed Europe PMC Scholia
  2. Niemi NM, Lanning NJ, Klomp JA, Tait SW, Xu Y, Dykema KJ, Murphy LO, Gaither LA, Xu HE, Furge KA, Green DR, MacKeigan JP; ''MK-STYX, a catalytically inactive phosphatase regulating mitochondrially dependent apoptosis.''; Mol Cell Biol, 2011 PubMed Europe PMC Scholia
  3. Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ; ''A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
  4. Niemi NM, Sacoman JL, Westrate LM, Gaither LA, Lanning NJ, Martin KR, MacKeigan JP; ''The pseudophosphatase MK-STYX physically and genetically interacts with the mitochondrial phosphatase PTPMT1.''; PLoS One, 2014 PubMed Europe PMC Scholia
  5. Yuasa K, Ota R, Matsuda S, Isshiki K, Inoue M, Tsuji A; ''Suppression of death-associated protein kinase 2 by interaction with 14-3-3 proteins.''; Biochem Biophys Res Commun, 2015 PubMed Europe PMC Scholia
  6. Benzinger A, Muster N, Koch HB, Yates JR 3rd, Hermeking H; ''Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer.''; Mol Cell Proteomics, 2005 PubMed Europe PMC Scholia
  7. Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, Irobi J, Gettemans J, Rousseau F, Schymkowitz J, Timmerman V, Janssens S; ''Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  8. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V; ''Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
  9. Rogalla T, Ehrnsperger M, Preville X, Kotlyarov A, Lutsch G, Ducasse C, Paul C, Wieske M, Arrigo AP, Buchner J, Gaestel M; ''Regulation of Hsp27 oligomerization, chaperone function, and protective activity against oxidative stress/tumor necrosis factor alpha by phosphorylation.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  10. Batrakou DG, de Las Heras JI, Czapiewski R, Mouras R, Schirmer EC; ''TMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte Differentiation.''; PLoS One, 2015 PubMed Europe PMC Scholia
  11. Barr JE, Munyikwa MR, Frazier EA, Hinton SD; ''The pseudophosphatase MK-STYX inhibits stress granule assembly independently of Ser149 phosphorylation of G3BP-1.''; FEBS J, 2013 PubMed Europe PMC Scholia
  12. Yu T, Robb VA, Singh V, Gutmann DH, Newsham IF; ''The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins.''; Biochem J, 2002 PubMed Europe PMC Scholia
  13. Dorner C, Ullrich A, Häring HU, Lammers R; ''The kinesin-like motor protein KIF1C occurs in intact cells as a dimer and associates with proteins of the 14-3-3 family.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
  14. Hinton SD, Myers MP, Roggero VR, Allison LA, Tonks NK; ''The pseudophosphatase MK-STYX interacts with G3BP and decreases stress granule formation.''; Biochem J, 2010 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134426view23:22, 21 July 2024EweitzRefine node alignment, standardize case
127625view20:30, 8 November 2023LarsgwRemove punctuation from bp:ID
127102view14:41, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127101view14:40, 2 August 2023FehrhartModified description
127100view14:35, 2 August 2023Fehrhartwork in progress
127099view12:16, 2 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
(S)-malate Metabolite15589 (ChEBI)
ApoptosisPathwayWP254 (WikiPathways)
DAPK2GeneProductENSG00000035664 (Ensembl)
EPB41L3GeneProductENSG00000082397 (Ensembl)
G3BP1GeneProductENSG00000145907 (Ensembl)
HSPB1GeneProductENSG00000106211 (Ensembl)
KIF1CGeneProductENSG00000129250 (Ensembl)
LMNAGeneProductENSG00000160789 (Ensembl)
MDH2GeneProductENSG00000146701 (Ensembl)
MIR4651GeneProductENSG00000265020 (Ensembl)
NAD+Metabolite57540 (ChEBI)
NADHMetabolite57945 (ChEBI)
NADP+Metabolite58349 (ChEBI)
NADPHMetabolite57783 (ChEBI)
Oxaloacetate Metabolite16452 (ChEBI)
PORGeneProductENSG00000127948 (Ensembl)
PTPMT1GeneProductENSG00000110536 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RHBDD2GeneProductENSG00000005486 (Ensembl)
SFNGeneProductENSG00000175793 (Ensembl)
SNORA14AGeneProductENSG00000201643 (Ensembl)
SRCRB4DGeneProductENSG00000146700 (Ensembl)
SRRM3GeneProductENSG00000177679 (Ensembl)
STYXL1GeneProductENSG00000127952 (Ensembl)
TMEM120AGeneProductENSG00000189077 (Ensembl)
TMEM120BGeneProductENSG00000188735 (Ensembl)
YWHAGGeneProductENSG00000170027 (Ensembl) 14-3-3 protein gamma
ZP1GeneProductENSG00000149506 (Ensembl)
ZP2GeneProductENSG00000103310 (Ensembl)
ZP3GeneProductENSG00000188372 (Ensembl)
oxidized [cytochrome P450]Metabolite55376 (ChEBI)
reduced [cytochrome P450]Metabolite60344 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
(S)-malate Oxaloacetate mim-conversion21432 (Rhea)
MDH2mim-catalysis21432 (Rhea)
NAD+NADHmim-conversion21432 (Rhea)
PORmim-catalysis24040 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5401"
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