17p13.3 (YWHAE) copy number variation (Homo sapiens)

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16, 145113, 153, 151, 1325, 126, 143, 155, 124, 81, 162, 51336, 143111510PMicrotubule mediated migrationnuclear movement and migration (during neuronal development)Legend Monoaminergic terminal promote dynein motor function GeneProduct5LIS1NoradrenalineDopamineDYNC1H1YWHAEL-DopaApoptosisNDEL1Cytoplasmic dynein complexTHYWHAECDK5YWHABDCTN1DISC1AADCTyrosineDBHPYWHAEYWHAGYWHAEYWHAH5, 1255YWHAEYWHAZYWHAEYWHAQ555, 12NDEL15, 12PPP2CADCTN2DCTN3DCTN4DCTN5DCTN67, 9Metabolite 7, 9pathway complex complex MIM-binding of compound to another MIM-conversion of a compound to another MIM-catalysis of a compound by an enzyme MIM-inhibition of a compound's function or a process Data node for hosphorylated protein Data node for complex Data node for complex Data node for pathwayData node for a protein coding gene or it's corresponding proteinData node for a metabolite


Description

The 17p13.3 deletion or duplication ranging from chr17:1250000 to chr17:1300000, affects YWHAE gene. The YWHAE gene plays a role in a lot of different processes and is closely related to many diseases.

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Ontology Terms

 

Bibliography

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  1. Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S; ''Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.''; Semin Cell Dev Biol, 2010 PubMed Europe PMC Scholia
  2. Yang YF, Lee YC, Wang YY, Wang CH, Hou MF, Yuan SF; ''YWHAE promotes proliferation, metastasis, and chemoresistance in breast cancer cells.''; Kaohsiung J Med Sci, 2019 PubMed Europe PMC Scholia
  3. Li X, Wang C, Wang S, Hu Y, Jin S, Liu O, Gou R, Nie X, Liu J, Lin B; ''YWHAE as an HE4 interacting protein can influence the malignant behaviour of ovarian cancer by regulating the PI3K/AKT and MAPK pathways.''; Cancer Cell Int, 2021 PubMed Europe PMC Scholia
  4. ''''; , PubMed Europe PMC Scholia
  5. Ikeda M, Hikita T, Taya S, Uraguchi-Asaki J, Toyo-oka K, Wynshaw-Boris A, Ujike H, Inada T, Takao K, Miyakawa T, Ozaki N, Kaibuchi K, Iwata N; ''Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
  6. Wynshaw-Boris A, Gambello MJ; ''LIS1 and dynein motor function in neuronal migration and development.''; Genes Dev, 2001 PubMed Europe PMC Scholia
  7. Chagraoui A, Boulain M, Juvin L, Anouar Y, Barrière G, Deurwaerdère P; ''L-DOPA in Parkinson's Disease: Looking at the "False" Neurotransmitters and Their Meaning.''; Int J Mol Sci, 2019 PubMed Europe PMC Scholia
  8. Weinshilboum RM, Thoa NB, Johnson DG, Kopin IJ, Axelrod J; ''Proportional release of norepinephrine and dopamine- -hydroxylase from sympathetic nerves.''; Science, 1971 PubMed Europe PMC Scholia
  9. Nagatsu T, Nakashima A, Watanabe H, Ito S, Wakamatsu K; ''Neuromelanin in Parkinson's Disease: Tyrosine Hydroxylase and Tyrosinase.''; Int J Mol Sci, 2022 PubMed Europe PMC Scholia
  10. Bradshaw NJ, Porteous DJ; ''DISC1-binding proteins in neural development, signalling and schizophrenia.''; Neuropharmacology, 2012 PubMed Europe PMC Scholia
  11. Jacobsen KK, Kleppe R, Johansson S, Zayats T, Haavik J; ''Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE.''; Am J Med Genet B Neuropsychiatr Genet, 2015 PubMed Europe PMC Scholia
  12. Kleppe R, Rosati S, Jorge-Finnigan A, Alvira S, Ghorbani S, Haavik J, Valpuesta JM, Heck AJ, Martinez A; ''Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3γ.''; Mol Cell Proteomics, 2014 PubMed Europe PMC Scholia
  13. Ye F, Kang E, Yu C, Qian X, Jacob F, Mao M, Poon RYC, Kim J, Song H, Ming GL, Zhang M; ''DISC1 Regulates Neurogenesis via Modulating Kinetochore Attachment of Ndel1/Nde1 during Mitosis.''; Neuron, 2017 PubMed Europe PMC Scholia
  14. Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A; ''14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.''; Nat Genet, 2003 PubMed Europe PMC Scholia
  15. Nagatsu T, Nakashima A, Watanabe H, Ito S, Wakamatsu K; ''Neuromelanin in Parkinson's Disease: Tyrosine Hydroxylase and Tyrosinase.''; Int J Mol Sci, 2022 PubMed Europe PMC Scholia
  16. Liu X, Bennison SA, Robinson L, Toyo-Oka K; ''Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε).''; Brain Sci, 2021 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134529view14:32, 22 July 2024EgonwFixed a reference (duplicate XML content)
134528view14:31, 22 July 2024EgonwRemoved two more template comments
134378view15:41, 21 July 2024EweitzRemove template comments
127460view11:03, 6 October 2023JmillanacostaTypo
127452view18:33, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127183view09:25, 9 August 2023FehrhartOntology Term : 'Miller-Dieker lissencephaly syndrome' added !
127182view09:23, 9 August 2023FehrhartOntology Term : 'disease pathway' added !
127118view22:46, 3 August 2023AlexanderPicoreduced color for better data overlay
126873view19:57, 28 June 2023Ninagerrekens
126651view11:25, 9 June 2023NinagerrekensNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AADCProteinP20711 (Uniprot-TrEMBL)
ApoptosisPathwayWP254 (WikiPathways)
CDK5ProteinQ00535 (Uniprot-TrEMBL)
Cytoplasmic dynein complexComplexGO:0005868 (BioCyc)
DBHProteinP09172 (Uniprot-TrEMBL)
DCTN1ProteinQ14203 (Uniprot-TrEMBL)
DCTN2ProteinQ13561 (Uniprot-TrEMBL)
DCTN3ProteinO75935 (Uniprot-TrEMBL)
DCTN4ProteinQ9UJW0 (Uniprot-TrEMBL)
DCTN5ProteinQ9BTE1 (Uniprot-TrEMBL)
DCTN6ProteinO00399 (Uniprot-TrEMBL)
DISC1ProteinQ9NRI5 (Uniprot-TrEMBL)
DYNC1H1ProteinQ14204 (Uniprot-TrEMBL)
DopamineMetabolite18243 (ChEBI)
L-DopaMetabolite15765 (ChEBI)
LIS1ProteinP43034 (Uniprot-TrEMBL)
NDEL1ProteinQ9GZM8 (Uniprot-TrEMBL)
  • By binding to phosphorylated NUDEL, YWHAE prevents dephosphorylation of phosphorylated NUDEL by PP2A
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NoradrenalineMetabolite33569 (ChEBI)
PPP2CAProteinP67775 (Uniprot-TrEMBL)
THProteinP07101 (Uniprot-TrEMBL) tyrosine hydroxylase
TyrosineMetabolite18186 (ChEBI)
YWHABProteinP31946 (Uniprot-TrEMBL)
YWHAE ProteinP62258 (Uniprot-TrEMBL)
YWHAEGeneProductENSG00000108953 (Ensembl)
YWHAGProteinP61981 (Uniprot-TrEMBL)
YWHAHProteinQ04917 (Uniprot-TrEMBL)
YWHAQProteinP27348 (Uniprot-TrEMBL)
YWHAZProteinP63104 (Uniprot-TrEMBL)
complex

Annotated Interactions

No annotated interactions

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