SHANK3 pathway involved in Phelan McDermid syndrome (Homo sapiens)

From WikiPathways

Revision as of 09:24, 11 August 2025 by Fehrhart (Talk | contribs)
(diff) ←Older revision | Current revision (diff) | Newer revision→ (diff)
Jump to: navigation, search


Description

This pathway shows the molecular pathway around the SHANK3 gene. Mutations in SHANK3 can cause Phelan McDermid syndrome.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Kornau HC, Schenker LT, Kennedy MB, Seeburg PH; ''Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95.''; Science, 1995 PubMed Europe PMC Scholia
  2. Park E, Na M, Choi J, Kim S, Lee JR, Yoon J, Park D, Sheng M, Kim E; ''The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  3. Cai Q, Zeng M, Wu X, Wu H, Zhan Y, Tian R, Zhang M; ''CaMKIIα-driven, phosphatase-checked postsynaptic plasticity via phase separation.''; Cell Res, 2021 PubMed Europe PMC Scholia
  4. Arons MH, Lee K, Thynne CJ, Kim SA, Schob C, Kindler S, Montgomery JM, Garner CC; ''Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength.''; J Neurosci, 2016 PubMed Europe PMC Scholia
  5. Lin R, Learman LN, Bangash MA, Melnikova T, Leyder E, Reddy SC, Naidoo N, Park JM, Savonenko A, Worley PF; ''Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome.''; Cell Rep, 2021 PubMed Europe PMC Scholia
  6. Cai Q, Hosokawa T, Zeng M, Hayashi Y, Zhang M; ''Shank3 Binds to and Stabilizes the Active Form of Rap1 and HRas GTPases via Its NTD-ANK Tandem with Distinct Mechanisms.''; Structure, 2020 PubMed Europe PMC Scholia
  7. Cai Q, Hosokawa T, Zeng M, Hayashi Y, Zhang M; ''Shank3 Binds to and Stabilizes the Active Form of Rap1 and HRas GTPases via Its NTD-ANK Tandem with Distinct Mechanisms.''; Structure, 2020 PubMed Europe PMC Scholia
  8. Tu JC, Xiao B, Naisbitt S, Yuan JP, Petralia RS, Brakeman P, Doan A, Aakalu VK, Lanahan AA, Sheng M, Worley PF; ''Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins.''; Neuron, 1999 PubMed Europe PMC Scholia
  9. Pant K, Chereau D, Hatch V, Dominguez R, Lehman W; ''Cortactin binding to F-actin revealed by electron microscopy and 3D reconstruction.''; J Mol Biol, 2006 PubMed Europe PMC Scholia
  10. Proepper C, Johannsen S, Liebau S, Dahl J, Vaida B, Bockmann J, Kreutz MR, Gundelfinger ED, Boeckers TM; ''Abelson interacting protein 1 (Abi-1) is essential for dendrite morphogenesis and synapse formation.''; EMBO J, 2007 PubMed Europe PMC Scholia
  11. Cai Q, Zeng M, Wu X, Wu H, Zhan Y, Tian R, Zhang M; ''CaMKIIα-driven, phosphatase-checked postsynaptic plasticity via phase separation.''; Cell Res, 2021 PubMed Europe PMC Scholia
  12. Ross MM, Aizenman E; ''GluA1-Shank3 interaction decreases in response to chronic neuronal depolarization.''; Neurosci Lett, 2023 PubMed Europe PMC Scholia
  13. Bayer KU, De Koninck P, Leonard AS, Hell JW, Schulman H; ''Interaction with the NMDA receptor locks CaMKII in an active conformation.''; Nature, 2001 PubMed Europe PMC Scholia
  14. Tu JC, Xiao B, Yuan JP, Lanahan AA, Leoffert K, Li M, Linden DJ, Worley PF; ''Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors.''; Neuron, 1998 PubMed Europe PMC Scholia
  15. Sobue K, Kanda K; ''Alpha-actinins, calspectin (brain spectrin or fodrin), and actin participate in adhesion and movement of growth cones.''; Neuron, 1989 PubMed Europe PMC Scholia
  16. Feng Z, Lee S, Jia B, Jian T, Kim E, Zhang M; ''IRSp53 promotes postsynaptic density formation and actin filament bundling.''; J Cell Biol, 2022 PubMed Europe PMC Scholia
  17. Yu A, Lau AY; ''Glutamate and Glycine Binding to the NMDA Receptor.''; Structure, 2018 PubMed Europe PMC Scholia
  18. Kreienkamp HJ, Zitzer H, Gundelfinger ED, Richter D, Bockers TM; ''The calcium-independent receptor for alpha-latrotoxin from human and rodent brains interacts with members of the ProSAP/SSTRIP/Shank family of multidomain proteins.''; J Biol Chem, 2000 PubMed Europe PMC Scholia
  19. Böckers TM, Mameza MG, Kreutz MR, Bockmann J, Weise C, Buck F, Richter D, Gundelfinger ED, Kreienkamp HJ; ''Synaptic scaffolding proteins in rat brain. Ankyrin repeatsof the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  20. Reim D, Weis TM, Halbedl S, Delling JP, Grabrucker AM, Boeckers TM, Schmeisser MJ; ''The Shank3 Interaction Partner ProSAPiP1 Regulates Postsynaptic SPAR Levels and the Maturation of Dendritic Spines in Hippocampal Neurons.''; Front Synaptic Neurosci, 2016 PubMed Europe PMC Scholia
  21. Naisbitt S, Kim E, Tu JC, Xiao B, Sala C, Valtschanoff J, Weinberg RJ, Worley PF, Sheng M; ''Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin.''; Neuron, 1999 PubMed Europe PMC Scholia
  22. Hassani Nia F, Woike D, Martens V, Klüssendorf M, Hönck HH, Harder S, Kreienkamp HJ; ''Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus.''; Mol Autism, 2020 PubMed Europe PMC Scholia
  23. Lim S, Sala C, Yoon J, Park S, Kuroda S, Sheng M, Kim E; ''Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins.''; Mol Cell Neurosci, 2001 PubMed Europe PMC Scholia
  24. Wang Z, Potter CS, Sundberg JP, Hogenesch H; ''SHARPIN is a key regulator of immune and inflammatory responses.''; J Cell Mol Med, 2012 PubMed Europe PMC Scholia
  25. Feng Z, Lee S, Jia B, Jian T, Kim E, Zhang M; ''IRSp53 promotes postsynaptic density formation and actin filament bundling.''; J Cell Biol, 2022 PubMed Europe PMC Scholia
  26. Boeckers TM, Winter C, Smalla KH, Kreutz MR, Bockmann J, Seidenbecher C, Garner CC, Gundelfinger ED; ''Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family.''; Biochem Biophys Res Commun, 1999 PubMed Europe PMC Scholia
  27. Monteiro P; ''Shank3 mutations and HCN channelopathy: one size does not fit all.''; J Physiol, 2018 PubMed Europe PMC Scholia
  28. Chowdhury D, Hell JW; ''How CBP/Shank3 Guards Rap and H-Ras.''; Structure, 2020 PubMed Europe PMC Scholia
  29. Haeckel A, Ahuja R, Gundelfinger ED, Qualmann B, Kessels MM; ''The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation.''; J Neurosci, 2008 PubMed Europe PMC Scholia
  30. Manser E, Loo TH, Koh CG, Zhao ZS, Chen XQ, Tan L, Tan I, Leung T, Lim L; ''PAK kinases are directly coupled to the PIX family of nucleotide exchangefactors.''; Mol Cell, 1998 PubMed Europe PMC Scholia
  31. Wang N, Chen L, Cheng N, Zhang J, Tian T, Lu W; ''Active calcium/calmodulin-dependent protein kinase II (CaMKII) regulates NMDA receptor mediated postischemic long-term potentiation (i-LTP) by promoting the interaction between CaMKII and NMDA receptors in ischemia.''; Neural Plast, 2014 PubMed Europe PMC Scholia
  32. Raynaud F, Janossy A, Dahl J, Bertaso F, Perroy J, Varrault A, Vidal M, Worley PF, Boeckers TM, Bockaert J, Marin P, Fagni L, Homburger V; ''Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation.''; J Neurosci, 2013 PubMed Europe PMC Scholia
  33. Moutin E, Sakkaki S, Compan V, Bouquier N, Giona F, Areias J, Goyet E, Hemonnot-Girard AL, Seube V, Glasson B, Benac N, Chastagnier Y, Raynaud F, Audinat E, Groc L, Maurice T, Sala C, Verpelli C, Perroy J; ''Restoring glutamate receptosome dynamics at synapses rescues autism-like deficits in Shank3-deficient mice.''; Mol Psychiatry, 2021 PubMed Europe PMC Scholia
  34. Reim D, Weis TM, Halbedl S, Delling JP, Grabrucker AM, Boeckers TM, Schmeisser MJ; ''The Shank3 Interaction Partner ProSAPiP1 Regulates Postsynaptic SPAR Levels and the Maturation of Dendritic Spines in Hippocampal Neurons.''; Front Synaptic Neurosci, 2016 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
140302view09:24, 11 August 2025Fehrhartsmall corrections
140301view09:14, 11 August 2025FehrhartOntology Term : 'Phelan-McDermid syndrome' added !
140300view09:14, 11 August 2025FehrhartOntology Term : 'disease pathway' added !
140299view09:13, 11 August 2025FehrhartModified description
140298view09:12, 11 August 2025FehrhartModified title
140187view14:35, 5 August 2025DuanModified the references.
139389view09:14, 12 June 2025SabyaSherpaNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ABI1GeneProductENSG00000136754 (Ensembl)
ACTBGeneProductENSG00000075624 (Ensembl)
ADGRL1GeneProductENSG00000072071 (Ensembl)
ARHGAP44GeneProductENSG00000006740 (Ensembl)
ARHGEF7GeneProductENSG00000102606 (Ensembl)
BAIAP2GeneProductENSG00000175866 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl)
CTNND2GeneProductENSG00000169862 (Ensembl)
CTTNGeneProductENSG00000085733 (Ensembl)
DBNLGeneProductENSG00000136279 (Ensembl)
DLGAP1GeneProductENSG00000170579 (Ensembl) dlgap1
GRIA1GeneProductENSG00000155511 (Ensembl)
GRIA2GeneProductENSG00000120251 (Ensembl)
GRIN1GeneProductENSG00000176884 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRM1GeneProductENSG00000152822 (Ensembl)
GRM5GeneProductENSG00000168959 (Ensembl)
HCN1GeneProductENSG00000164588 (Ensembl)
HOMER1GeneProductENSG00000152413 (Ensembl)
HRASGeneProductENSG00000174775 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
ITPR1GeneProductENSG00000150995 (Ensembl)
LZTS3GeneProductENSG00000088899 (Ensembl)
MAP3K7GeneProductENSG00000135341 (Ensembl)
NF-kB signalingPathwayWP5527 (WikiPathways)
PAK1GeneProductENSG00000149269 (Ensembl)
PSD-95GeneProductENSG00000132535 (Ensembl) dlg4
RAC1GeneProductENSG00000136238- (Ensembl)
RAP1AGeneProductENSG00000116473 (Ensembl)
SHANK3GeneProductENSG00000251322 (Ensembl)
SHARPINGeneProductENSG00000179526 (Ensembl)
SPAARGeneProductENSG00000235387 (Ensembl)
SPTAN1GeneProductENSG00000197694 (Ensembl)
SYNGAP1GeneProductENSG00000197283 (Ensembl)
TAB2/3GeneProductENSG00000055208 (Ensembl)
Zn(2+)MetaboliteCHEBI:29105 (ChEBI)
glutamateMetaboliteCHEBI:14321 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5566"
Personal tools