Peripheral plasma membrane protein CASK

Details

Name
Peripheral plasma membrane protein CASK
Synonyms
  • 2.7.11.1
  • Calcium/calmodulin-dependent serine protein kinase
  • hCASK
  • LIN2
  • Protein lin-2 homolog
Gene Name
CASK
Organism
Humans
Amino acid sequence
>lcl|BSEQ0005180|Peripheral plasma membrane protein CASK
MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK
LENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVF
DQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKK
DEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQ
ALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
ETIRHLEEAVELVCTAPQWVPVSWVY
Number of residues
926
Molecular Weight
105121.915
Theoretical pI
6.4
GO Classification
Functions
ATP binding / guanylate kinase activity / protein serine/threonine kinase activity
Processes
calcium ion import / cell adhesion / extracellular matrix organization / GDP metabolic process / GMP metabolic process / negative regulation of cell-matrix adhesion / negative regulation of cellular response to growth factor stimulus / negative regulation of keratinocyte proliferation / negative regulation of wound healing / neurotransmitter secretion / positive regulation of calcium ion import / positive regulation of transcription from RNA polymerase II promoter / synaptic transmission
Components
actin cytoskeleton / basement membrane / basolateral plasma membrane / cell-cell junction / ciliary membrane / cytoplasm / cytosol / focal adhesion / nuclear lamina / nuclear matrix / nucleolus / plasma membrane / presynaptic membrane / vesicle
General Function
Protein serine/threonine kinase activity
Specific Function
Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Nucleus
Gene sequence
>lcl|BSEQ0020623|Peripheral plasma membrane protein CASK (CASK)
ATGGCCGACGACGACGTGCTGTTCGAGGATGTGTACGAGCTGTGCGAGGTGATCGGAAAG
GGTCCCTTCAGTGTTGTACGACGATGTATCAACAGAGAAACTGGGCAACAATTTGCTGTA
AAAATTGTTGATGTAGCCAAGTTCACATCAAGTCCAGGGTTAAGTACAGAAGATCTAAAG
CGGGAAGCCAGTATCTGTCATATGCTGAAACATCCACACATTGTAGAGTTATTGGAGACA
TATAGCTCAGATGGAATGCTTTACATGGTTTTCGAATTTATGGATGGAGCAGATCTGTGT
TTTGAAATCGTAAAGCGAGCTGACGCTGGTTTTGTGTACAGTGAAGCTGTAGCCAGCCAT
TATATGAGACAGATACTGGAAGCTCTACGCTACTGCCATGATAATAACATAATTCACAGG
GATGTGAAGCCCCACTGTGTTCTCCTTGCCTCAAAAGAAAACTCGGCACCTGTTAAACTT
GGAGGCTTTGGGGTAGCTATTCAATTAGGGGAGTCTGGACTTGTAGCTGGAGGACGTGTT
GGAACACCTCATTTTATGGCACCAGAAGTGGTCAAAAGAGAGCCTTACGGAAAGCCTGTA
GACGTCTGGGGGTGCGGTGTGATCCTTTTTATCCTGCTCAGTGGTTGTTTGCCTTTTTAC
GGAACCAAGGAAAGATTGTTTGAAGGCATTATTAAAGGAAAATATAAGATGAATCCAAGG
CAGTGGAGCCATATCTCTGAAAGTGCCAAAGACCTAGTACGTCGCATGCTGATGCTGGAT
CCAGCTGAAAGGATCACTGTTTATGAAGCACTGAATCACCCATGGCTTAAGGAGCGGGAT
CGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCA
AGGAGGAAACTAAAGGGTGCAGTACTAGCCGCTGTGTCAAGTCACAAATTCAACTCATTC
TATGGGGATCCCCCTGAAGAGTTACCAGATTTCTCCGAAGACCCTACCTCCTCAGGACTT
CTAGCAGCAGAAAGAGCAGTCTCACAGGTGCTGGACAGCCTGGAAGAGATTCATGCGCTT
ACAGACTGCAGTGAAAAGGACCTAGATTTTCTACACAGTGTTTTCCAGGATCAGCATCTT
CACACACTACTAGATCTGTATGACAAAATTAACACAAAGTCTTCACCACAAATCAGGAAT
CCTCCAAGCGATGCAGTACAGAGAGCCAAAGAGGTATTGGAAGAAATTTCATGTTACCCT
GAGAATAACGACGCAAAGGAACTAAAGCGTATTTTAACACAACCTCATTTCATGGCCTTA
CTTCAGACTCACGACGTAGTGGCACATGAAGTTTACAGTGATGAAGCATTGAGGGTCACA
CCTCCTCCCACCTCTCCCTATTTAAACGGCGATTCTCCAGAAAGTGCTAACGGAGACATG
GATATGGAGAATGTGACCAGAGTTCGGCTGGTACAGTTTCAAAAGAACACAGATGAACCA
ATGGGAATCACTTTAAAAATGAATGAACTAAATCATTGTATTGTTGCAAGAATTATGCAT
GGGGGCATGATTCACAGGCAAGGTACACTTCATGTTGGTGATGAAATTCGAGAAATCAAT
GGCATCAGTGTGGCTAACCAAACAGTGGAACAACTGCAAAAAATGCTTAGGGAAATGCGG
GGGAGTATTACCTTCAAGATTGTGCCAAGTTACCGCACTCAGTCTTCGTCCTGTGAGGAC
TTGCCATCAACTACCCAACCAAAAGGACGACAGATCTATGTAAGAGCACAATTTGAATAT
GATCCAGCCAAGGATGACCTCATCCCCTGTAAAGAAGCTGGCATTCGATTCAGAGTTGGT
GACATCATCCAGATTATTAGTAAGGATGATCATAATTGGTGGCAGGGTAAACTGGAAAAC
TCCAAAAATGGAACTGCAGGTCTCATTCCTTCTCCTGAACTTCAGGAATGGCGAGTAGCT
TGCATTGCCATGGAGAAGACCAAACAGGAGCAGCAGGCCAGCTGTACTTGGTTTGGCAAG
AAAAAGAAGCAGTACAAAGATAAATATTTGGCAAAGCACAATGCAGATCTTGTCACATAT
GAAGAAGTAGTAAAACTGCCAGCATTCAAGAGGAAAACACTAGTCTTATTAGGCGCACAT
GGTGTTGGGAGAAGACACATAAAAAACACTCTCATCACAAAGCACCCAGACCGGTTTGCG
TACCCTATTCCACATACAACCAGACCTCCAAAGAAAGACGAAGAAAATGGAAAGAATTAT
TACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAACGAGTACTTGGAGTAC
GGCAGCCACGAGGATGCGATGTATGGGACAAAACTGGAGACCATCCGGAAGATCCACGAG
CAGGGGCTGATTGCAATACTGGACGTGGAGCCTCAGGCACTGAAGGTCCTGAGAACTGCA
GAGTTTGCTCCTTTTGTTGTTTTCATTGCTGCACCAACTATTACTCCAGGTTTAAATGAG
GATGAATCTCTTCAGCGTCTGCAGAAGGAGTCTGACATCTTACAGAGAACATATGCACAC
TACTTCGATCTCACAATTATCAACAATGAAATTGATGAGACAATCAGACATCTGGAGGAA
GCTGTTGAGCTCGTGTGCACAGCCCCACAGTGGGTCCCTGTCTCCTGGGTCTATTAG
Chromosome Location
X
Locus
Xp11.4
External Identifiers
ResourceLink
UniProtKB IDO14936
UniProtKB Entry NameCSKP_HUMAN
GenBank Gene IDAF032119
GenAtlas IDCASK
HGNC IDHGNC:1497
General References
  1. Cohen AR, Woods DF, Marfatia SM, Walther Z, Chishti AH, Anderson JM: Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. J Cell Biol. 1998 Jul 13;142(1):129-38. [PubMed:9660868]
  2. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  4. Stevenson D, Laverty HG, Wenwieser S, Douglas M, Wilson JB: Mapping and expression analysis of the human CASK gene. Mamm Genome. 2000 Oct;11(10):934-7. [PubMed:11003712]
  5. Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK: Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet. 2008 Dec;83(6):703-13. doi: 10.1016/j.ajhg.2008.10.020. Epub 2008 Nov 13. [PubMed:19012874]
  6. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569]
  7. Daniels DL, Cohen AR, Anderson JM, Brunger AT: Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition. Nat Struct Biol. 1998 Apr;5(4):317-25. [PubMed:9546224]
  8. Mukherjee K, Sharma M, Urlaub H, Bourenkov GP, Jahn R, Sudhof TC, Wahl MC: CASK Functions as a Mg2+-independent neurexin kinase. Cell. 2008 Apr 18;133(2):328-39. doi: 10.1016/j.cell.2008.02.036. [PubMed:18423203]
  9. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed:17344846]
  10. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194. [PubMed:19165920]
  11. Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V: A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5. [PubMed:19200522]
  12. 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: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19. [PubMed:19377476]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01942Formic acidexperimental, investigationalunknownDetails
DB12010Fostamatinibapproved, investigationalunknowninhibitorDetails