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

From WikiPathways

Revision as of 22:46, 3 August 2023 by AlexanderPico (Talk | contribs)
Jump to: navigation, search
2, 53, 1523, 151, 136, 14115114, 83, 156, 1433135, 12101156, 141, 165, 12PLegend GeneProductpromote dynein motor function nuclear movement and migration (during neuronal development)Microtubule mediated migrationMonoaminergic terminal 5AADCDopamineYWHAENDEL1DYNC1H1DCTN1Cytoplasmic dynein complexDBHNoradrenalineLIS1DISC1YWHABYWHAETHTyrosineL-DopaCDK5ApoptosisPYWHAEYWHAGYWHAEYWHAH5, 1255YWHAEYWHAZYWHAEYWHAQ555, 125, 12NDEL1PPP2CADCTN2DCTN3DCTN4DCTN5DCTN67, 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.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  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

View all...
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

View all...
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
  • Type your comment here
  • Type your comment here
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

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5376"
Personal tools