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词条 CASK
释义

  1. Gene

  2. Function

  3. Clinical importance

  4. Interactions

  5. References

  6. Further reading

  7. External links

{{Infobox gene}}

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene.[1][2] This gene is also known by several other names: CMG 2 (CAMGUK protein 2), calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

Gene

This gene is located on the short arm of the X chromosome (Xp11.4). It is 404,253 bases in length and lies on the Crick (minus) strand. The encoded protein has 926 amino acids with a predicted molecular weight of 105,123 Daltons.

Function

This protein is a multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. It interacts with the transcription factor TBR1 and binds to several cell-surface proteins including amyloid precursor protein, neurexins and syndecans.

Clinical importance

This gene has been implicated in X-linked mental retardation,[3] including specifically mental retardation and microcephaly with pontine and cerebellar hypoplasia.[4]

Interactions

CASK has been shown to interact with:

  • KCNJ4[5][6]
  • APBA1[7][7]
  • ATP2B4[8]
  • CINAP and TBR1[9]
  • DLG1[6][12][10]
  • DLG4[11]
  • F11 receptor[12][13]
  • ID1[14]
  • KCNJ12[5][6]
  • LIN7A[6][15]
  • Nephrin[16]
  • Parkin (ligase)[17]
  • RPH3A[18]
  • SDC2[18][19]
{{Clear}}

References

1. ^{{cite journal | vauthors = Dimitratos SD, Stathakis DG, Nelson CA, Woods DF, Bryant PJ | title = The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy | journal = Genomics | volume = 51 | issue = 2 | pages = 308–309 | date = Nov 1998 | pmid = 9722958 | pmc = | doi = 10.1006/geno.1998.5404 }}
2. ^{{cite web | title = Entrez Gene: CASK Calcium/calmodulin-dependent serine protein kinase (MAGUK family)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8573| accessdate = }}
3. ^{{cite journal | vauthors = Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR | title = A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | journal = Nat. Genet. | volume = 41 | issue = 5 | pages = 535–43 | date = May 2009 | pmid = 19377476 | pmc = 2872007 | doi = 10.1038/ng.367 }}
4. ^{{cite journal | vauthors = Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D | title = Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient | journal = Orphanet Journal of Rare Diseases | volume = 7 | issue = 18 | pages = 18 | year = 2012 | pmid = 22452838 | pmc = 3351739 | doi = 10.1186/1750-1172-7-18 }}
5. ^1 {{cite journal | vauthors = Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA | title = Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins | journal = J. Biol. Chem. | volume = 279 | issue = 21 | pages = 22331–46 | date = May 2004 | pmid = 15024025 | doi = 10.1074/jbc.M400285200 }}
6. ^1 2 3 {{cite journal | vauthors = Leonoudakis D, Conti LR, Radeke CM, McGuire LM, Vandenberg CA | title = A multiprotein trafficking complex composed of SAP97, CASK, Veli, and Mint1 is associated with inward rectifier Kir2 potassium channels | journal = J. Biol. Chem. | volume = 279 | issue = 18 | pages = 19051–63 | date = April 2004 | pmid = 14960569 | doi = 10.1074/jbc.M400284200 }}
7. ^{{cite journal | vauthors = Borg JP, Lõpez-Figueroa MO, de Taddèo-Borg M, Kroon DE, Turner RS, Watson SJ, Margolis B | title = Molecular analysis of the X11-mLin-2/CASK complex in brain | journal = J. Neurosci. | volume = 19 | issue = 4 | pages = 1307–16 | date = February 1999 | pmid = 9952408 | doi = 10.1523/JNEUROSCI.19-04-01307.1999}}
8. ^{{cite journal | vauthors = Schuh K, Uldrijan S, Gambaryan S, Roethlein N, Neyses L | title = Interaction of the plasma membrane Ca2+ pump 4b/CI with the Ca2+/calmodulin-dependent membrane-associated kinase CASK | journal = J. Biol. Chem. | volume = 278 | issue = 11 | pages = 9778–83 | date = March 2003 | pmid = 12511555 | doi = 10.1074/jbc.M212507200 }}
9. ^{{cite journal | vauthors = Wang GS, Hong CJ, Yen TY, Huang HY, Ou Y, Huang TN, Jung WG, Kuo TY, Sheng M, Wang TF, Hsueh YP | title = Transcriptional modification by a CASK-interacting nucleosome assembly protein | journal = Neuron | volume = 42 | issue = 1 | pages = 113–28 | date = April 2004 | pmid = 15066269 | doi = 10.1016/S0896-6273(04)00139-4 }}
10. ^{{cite journal | vauthors = Nix SL, Chishti AH, Anderson JM, Walther Z | title = hCASK and hDlg associate in epithelia, and their src homology 3 and guanylate kinase domains participate in both intramolecular and intermolecular interactions | journal = J. Biol. Chem. | volume = 275 | issue = 52 | pages = 41192–200 | date = December 2000 | pmid = 10993877 | doi = 10.1074/jbc.M002078200 }}
11. ^1 {{cite journal | vauthors = Chetkovich DM, Bunn RC, Kuo SH, Kawasaki Y, Kohwi M, Bredt DS | title = Postsynaptic targeting of alternative postsynaptic density-95 isoforms by distinct mechanisms | journal = J. Neurosci. | volume = 22 | issue = 15 | pages = 6415–25 | date = August 2002 | pmid = 12151521 | doi = 10.1523/JNEUROSCI.22-15-06415.2002}}
12. ^{{cite journal | vauthors = Martinez-Estrada OM, Villa A, Breviario F, Orsenigo F, Dejana E, Bazzoni G | title = Association of junctional adhesion molecule with calcium/calmodulin-dependent serine protein kinase (CASK/LIN-2) in human epithelial caco-2 cells | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9291–6 | date = March 2001 | pmid = 11120739 | doi = 10.1074/jbc.M006991200 }}
13. ^{{cite journal | vauthors = Ebnet K, Schulz CU, Meyer Zu Brickwedde MK, Pendl GG, Vestweber D | title = Junctional adhesion molecule interacts with the PDZ domain-containing proteins AF-6 and ZO-1 | journal = J. Biol. Chem. | volume = 275 | issue = 36 | pages = 27979–88 | date = September 2000 | pmid = 10856295 | doi = 10.1074/jbc.M002363200 }}
14. ^{{cite journal | vauthors = Qi J, Su Y, Sun R, Zhang F, Luo X, Yang Z, Luo X | title = CASK inhibits ECV304 cell growth and interacts with Id1 | journal = Biochem. Biophys. Res. Commun. | volume = 328 | issue = 2 | pages = 517–21 | date = March 2005 | pmid = 15694377 | doi = 10.1016/j.bbrc.2005.01.014 }}
15. ^1 {{cite journal | vauthors = Borg JP, Straight SW, Kaech SM, de Taddéo-Borg M, Kroon DE, Karnak D, Turner RS, Kim SK, Margolis B | title = Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting | journal = J. Biol. Chem. | volume = 273 | issue = 48 | pages = 31633–6 | date = November 1998 | pmid = 9822620 | doi = 10.1074/jbc.273.48.31633 }}
16. ^{{cite journal | vauthors = Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG | title = Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin | journal = Am. J. Pathol. | volume = 165 | issue = 3 | pages = 923–36 | date = September 2004 | pmid = 15331416 | pmc = 1618613 | doi = 10.1016/S0002-9440(10)63354-8 }}
17. ^{{cite journal | vauthors = Fallon L, Moreau F, Croft BG, Labib N, Gu WJ, Fon EA | title = Parkin and CASK/LIN-2 associate via a PDZ-mediated interaction and are co-localized in lipid rafts and postsynaptic densities in brain | journal = J. Biol. Chem. | volume = 277 | issue = 1 | pages = 486–91 | date = January 2002 | pmid = 11679592 | doi = 10.1074/jbc.M109806200 }}
18. ^1 {{cite journal | vauthors = Zhang Y, Luan Z, Liu A, Hu G | title = The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins | journal = FEBS Lett. | volume = 497 | issue = 2–3 | pages = 99–102 | date = May 2001 | pmid = 11377421 | doi = 10.1016/S0014-5793(01)02450-4 }}
19. ^{{cite journal | vauthors = Cohen AR, Woods DF, Marfatia SM, Walther Z, Chishti AH, Anderson JM, Wood DF | title = Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells | journal = J. Cell Biol. | volume = 142 | issue = 1 | pages = 129–38 | date = July 1998 | pmid = 9660868 | pmc = 2133028 | doi = 10.1083/jcb.142.1.129 }}

Further reading

{{refbegin|colwidth=35em}}
  • {{cite journal | vauthors = Zhu ZQ, Wang D, Xiang D, Yuan YX, Wang Y | title = Calcium/calmodulin-dependent serine protein kinase is involved in exendin-4-induced insulin secretion in INS-1 cells | journal = Metab. Clin. Exp. | volume = 63 | issue = 1 | pages = 120–6 | year = 2014 | pmid = 24140090 | doi = 10.1016/j.metabol.2013.09.009 | quote = }}
  • {{cite journal | vauthors = Wang Y, Li R, Du D, Zhang C, Yuan H, Zeng R, Chen Z | title = Proteomic analysis reveals novel molecules involved in insulin signaling pathway | journal = J. Proteome Res. | volume = 5 | issue = 4 | pages = 846–55 | year = 2006 | pmid = 16602692 | doi = 10.1021/pr050391m | citeseerx = 10.1.1.583.5128 }}
  • {{cite journal | vauthors = Mukherjee K, Slawson JB, Christmann BL, Griffith LC | title = Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry | journal = Frontiers in Molecular Neuroscience | year = 2014 | volume = 7 | pages = 58 | doi = 10.3389/fnmol.2014.00058 | pmid=25071438 | pmc=4075472}}
  • {{cite journal | vauthors = Wei JL, Fu ZX, Fang M, Zhou QY, Zhao QN, Guo JB, Lu WD, Wang H | title = High expression of CASK correlates with progression and poor prognosis of colorectal cancer | journal = Tumour Biol. | volume = 35| issue = 9| pages = 9185–94| year = 2014 | pmid = 24927672 | doi = 10.1007/s13277-014-2179-3 }}
  • {{cite journal | vauthors = Hata Y, Butz S, Südhof TC | title = CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins | journal = J. Neurosci. | volume = 16 | issue = 8 | pages = 2488–94 | year = 1996 | pmid = 8786425 | doi = 10.1523/JNEUROSCI.16-08-02488.1996}}
  • {{cite journal | vauthors = Daniels DL, Cohen AR, Anderson JM, Brünger AT | title = Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition | journal = Nat. Struct. Biol. | volume = 5 | issue = 4 | pages = 317–325 | year = 1998 | pmid = 9546224 | doi = 10.1038/nsb0498-317 }}
  • {{cite journal | vauthors = Hsueh YP, Yang FC, Kharazia V, Naisbitt S, Cohen AR, Weinberg RJ, Sheng M | title = Direct interaction of CASK/LIN-2 and syndecan heparan sulfate proteoglycan and their overlapping distribution in neuronal synapses | journal = J. Cell Biol. | volume = 142 | issue = 1 | pages = 139–51 | date = July 1998 | pmid = 9660869 | pmc = 2133027 | doi = 10.1083/jcb.142.1.139 }}
  • {{cite journal | vauthors = Butz S, Okamoto M, Südhof TC | title = A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain | journal = Cell | volume = 94 | issue = 6 | pages = 773–782 | year = 1998 | pmid = 9753324 | doi = 10.1016/S0092-8674(00)81736-5 }}
  • {{cite journal | vauthors = Borg JP, Straight SW, Kaech SM, de Taddéo-Borg M, Kroon DE, Karnak D, Turner RS, Kim SK, Margolis B | title = Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting | journal = J. Biol. Chem. | volume = 273 | issue = 48 | pages = 31633–6 | date = November 1998 | pmid = 9822620 | doi = 10.1074/jbc.273.48.31633 }}
  • {{cite journal | vauthors = Borg JP, Lõpez-Figueroa MO, de Taddèo-Borg M, Kroon DE, Turner RS, Watson SJ, Margolis B | title = Molecular analysis of the X11-mLin-2/CASK complex in brain | journal = J. Neurosci. | volume = 19 | issue = 4 | pages = 1307–16 | date = February 1999 | pmid = 9952408 | doi = 10.1523/JNEUROSCI.19-04-01307.1999}}
  • {{cite journal | vauthors = Maximov A, Südhof TC, Bezprozvanny I | title = Association of neuronal calcium channels with modular adaptor proteins | journal = J. Biol. Chem. | volume = 274 | issue = 35 | pages = 24453–24456 | year = 1999 | pmid = 10455105 | doi = 10.1074/jbc.274.35.24453 }}
  • {{cite journal | vauthors = Hsueh YP, Sheng M | title = Regulated expression and subcellular localization of syndecan heparan sulfate proteoglycans and the syndecan-binding protein CASK/LIN-2 during rat brain development | journal = J. Neurosci. | volume = 19 | issue = 17 | pages = 7415–25 | year = 1999 | pmid = 10460248 | doi = 10.1523/JNEUROSCI.19-17-07415.1999}}
  • {{cite journal | vauthors = Hsueh YP, Wang TF, Yang FC, Sheng M | title = Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2 | journal = Nature | volume = 404 | issue = 6775 | pages = 298–302 | year = 2000 | pmid = 10749215 | doi = 10.1038/35005118 }}
  • {{cite journal | vauthors = Ebnet K, Schulz CU, Meyer Zu Brickwedde MK, Pendl GG, Vestweber D | title = Junctional adhesion molecule interacts with the PDZ domain-containing proteins AF-6 and ZO-1 | journal = J. Biol. Chem. | volume = 275 | issue = 36 | pages = 27979–88 | date = September 2000 | pmid = 10856295 | doi = 10.1074/jbc.M002363200 }}
  • {{cite journal | vauthors = Nix SL, Chishti AH, Anderson JM, Walther Z | title = hCASK and hDlg associate in epithelia, and their src homology 3 and guanylate kinase domains participate in both intramolecular and intermolecular interactions | journal = J. Biol. Chem. | volume = 275 | issue = 52 | pages = 41192–41200 | year = 2001 | pmid = 10993877 | doi = 10.1074/jbc.M002078200 }}
  • {{cite journal | vauthors = Stevenson D, Laverty HG, Wenwieser S, Douglas M, Wilson JB | title = Mapping and expression analysis of the human CASK gene | journal = Mamm. Genome | volume = 11 | issue = 10 | pages = 934–7 | date = October 2000 | pmid = 11003712 | doi = 10.1007/s003350010170 }}
  • {{cite journal | vauthors = Biederer T, Südhof TC | title = Mints as adaptors. Direct binding to neurexins and recruitment of munc18 | journal = J. Biol. Chem. | volume = 275 | issue = 51 | pages = 39803–6 | date = December 2000 | pmid = 11036064 | doi = 10.1074/jbc.C000656200 }}
  • {{cite journal | vauthors = Martinez-Estrada OM, Villa A, Breviario F, Orsenigo F, Dejana E, Bazzoni G | title = Association of junctional adhesion molecule with calcium/calmodulin-dependent serine protein kinase (CASK/LIN-2) in human epithelial caco-2 cells | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9291–6 | date = March 2001 | pmid = 11120739 | doi = 10.1074/jbc.M006991200 }}
  • {{cite journal | vauthors = Hsueh YP, Roberts AM, Volta M, Sheng M, Roberts RG | title = Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans | journal = J. Neurosci. | volume = 21 | issue = 11 | pages = 3764–70 | date = June 2001 | pmid = 11356864 | doi = 10.1523/JNEUROSCI.21-11-03764.2001}}
  • {{cite journal | vauthors = Zhang Y, Luan Z, Liu A, Hu G | title = The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins | journal = FEBS Lett. | volume = 497 | issue = 2–3 | pages = 99–102 | date = May 2001 | pmid = 11377421 | doi = 10.1016/S0014-5793(01)02450-4 }}
  • {{cite journal | vauthors = Fallon L, Moreau F, Croft BG, Labib N, Gu WJ, Fon EA | title = Parkin and CASK/LIN-2 associate via a PDZ-mediated interaction and are co-localized in lipid rafts and postsynaptic densities in brain | journal = J. Biol. Chem. | volume = 277 | issue = 1 | pages = 486–91 | date = January 2002 | pmid = 11679592 | doi = 10.1074/jbc.M109806200 }}
  • {{cite journal | vauthors = Olsen O, Liu H, Wade JB, Merot J, Welling PA | title = Basolateral membrane expression of the Kir 2.3 channel is coordinated by PDZ interaction with Lin-7/CASK complex | journal = Am. J. Physiol., Cell Physiol. | volume = 282 | issue = 1 | pages = C183–95 | date = January 2002 | pmid = 11742811 | doi = 10.1152/ajpcell.00249.2001 }}
{{refend}}

External links

  • {{UCSC gene info|CASK}}
{{PDB Gallery|geneid=8573}}{{Serine/threonine-specific protein kinases}}{{Enzymes}}{{Portal bar|Molecular and Cellular Biology|border=no}}

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