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Identification
HMDB Protein ID HMDBP08709
Secondary Accession Numbers
  • 14431
Name Peripheral plasma membrane protein CASK
Synonyms
  1. Calcium/calmodulin-dependent serine protein kinase
  2. Protein lin-2 homolog
  3. hCASK
Gene Name CASK
Protein Type Unknown
Biological Properties
General Function Involved in protein binding
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 TRB1. 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
Pathways Not Available
Reactions Not Available
GO Classification
Function
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
protein binding
protein kinase activity
protein serine/threonine kinase activity
Process
phosphorus metabolic process
phosphate metabolic process
metabolic process
cellular metabolic process
protein amino acid phosphorylation
phosphorylation
Cellular Location
  1. Cell membrane
  2. Nucleus
  3. Cytoplasm
  4. Peripheral membrane protein
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs CASK
Gene Sequence
>2766 bp
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
GGGAGTATTACCTTCAAGATTGTGCCAAGTTACCGCACTCAGTCTTCGTCCTGTGAGAGA
GATTCCCCTTCCACTTCCAGACAGTCCCCAGCTAATGGTCATAGCAGCACTAACAATTCT
GTTTCGGACTTGCCATCAACTACCCAACCAAAAGGACGACAGATCTATGTAAGAGCACAA
TTTGAATATGATCCAGCCAAGGATGACCTCATCCCCTGTAAAGAAGCTGGCATTCGATTC
AGAGTTGGTGACATCATCCAGATTATTAGTAAGGATGATCATAATTGGTGGCAGGGTAAA
CTGGAAAACTCCAAAAATGGAACTGCAGGTCTCATTCCTTCTCCTGAACTTCAGGAATGG
CGAGTAGCTTGCATTGCCATGGAGAAGACCAAACAGGAGCAGCAGGCCAGCTGTACTTGG
TTTGGCAAGAAAAAGAAGCAGTACAAAGATAAATATTTGGCAAAGCACAATGCAGATCTT
GTCACATATGAAGAAGTAGTAAAACTGCCAGCATTCAAGAGGAAAACACTAGTCTTATTA
GGCGCACATGGTGTTGGGAGAAGACACATAAAAAACACTCTCATCACAAAGCACCCAGAC
CGGTTTGCGTACCCTATTCCACATACAACCAGACCTCCAAAGAAAGACGAAGAAAATGGA
AAGAATTATTACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAACGAGTAC
TTGGAGTACGGCAGCCACGAGGATGCGATGTATGGGACAAAACTGGAGACCATCCGGAAG
ATCCACGAGCAGGGGCTGATTGCAATACTGGACGTGGAGCCTCAGGCACTGAAGGTCCTG
AGAACTGCAGAGTTTGCTCCTTTTGTTGTTTTCATTGCTGCACCAACTATTACTCCAGGT
TTAAATGAGGATGAATCTCTTCAGCGTCTGCAGAAGGAGTCTGACATCTTACAGAGAACA
TATGCACACTACTTCGATCTCACAATTATCAACAATGAAATTGATGAGACAATCAGACAT
CTGGAGGAAGCTGTTGAGCTCGTGTGCACAGCCCCACAGTGGGTCCCTGTCTCCTGGGTC
TATTAG
Protein Properties
Number of Residues 926
Molecular Weight 105121.9
Theoretical pI 6.4
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Peripheral plasma membrane protein CASK
MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK
LENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVF
DQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKK
DEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQ
ALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
ETIRHLEEAVELVCTAPQWVPVSWVY
GenBank ID Protein 186972120
UniProtKB/Swiss-Prot ID O14936
UniProtKB/Swiss-Prot Entry Name CSKP_HUMAN
PDB IDs
GenBank Gene ID NM_003688
GeneCard ID CASK
GenAtlas ID CASK
HGNC ID HGNC:1497
References
General References
  1. 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 ]
  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. 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 ]
  4. 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 ]
  5. 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 ]
  6. 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 ]
  7. 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 ]
  8. 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 ]
  9. 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 ]
  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 ]