Neural cell adhesion molecule L1

Details

Name
Neural cell adhesion molecule L1
Kind
protein
Synonyms
  • CAML1
  • MIC5
  • N-CAM-L1
  • NCAM-L1
Gene Name
L1CAM
UniProtKB Entry
P32004Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0049712|Neural cell adhesion molecule L1
MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEAS
GKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKL
GTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIK
QDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKP
RLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRP
QPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANG
TLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQ
ASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPE
KWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVD
VKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTST
FVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDE
GGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDF
GNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDL
QPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLIL
CFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE
Number of residues
1257
Molecular Weight
140001.87
Theoretical pI
Not Available
GO Classification
Functions
protein domain specific binding
Processes
axon development / axon guidance / cell adhesion / cell migration / cell-matrix adhesion / chemotaxis / nervous system development / neuron projection development / positive regulation of axon extension / synapse organization
Components
axon / axonal growth cone / cell surface / dendrite / focal adhesion / neuronal cell body / plasma membrane
General Function
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity
Specific Function
axon guidance receptor activity
Pfam Domain Function
Signal Regions
1-19
Transmembrane Regions
1121-1143
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0049713|Neural cell adhesion molecule L1 (L1CAM)
ATGGTCGTGGCGCTGCGGTACGTGTGGCCTCTCCTCCTCTGCAGCCCCTGCCTGCTTATC
CAGATCCCCGAGGAATATGAAGGACACCATGTGATGGAGCCACCTGTCATCACGGAACAG
TCTCCACGGCGCCTGGTTGTCTTCCCCACAGATGACATCAGCCTCAAGTGTGAGGCCAGT
GGCAAGCCCGAAGTGCAGTTCCGCTGGACGAGGGATGGTGTCCACTTCAAACCCAAGGAA
GAGCTGGGTGTGACCGTGTACCAGTCGCCCCACTCTGGCTCCTTCACCATCACGGGCAAC
AACAGCAACTTTGCTCAGAGGTTCCAGGGCATCTACCGCTGCTTTGCCAGCAATAAGCTG
GGCACCGCCATGTCCCATGAGATCCGGCTCATGGCCGAGGGTGCCCCCAAGTGGCCAAAG
GAGACAGTGAAGCCCGTGGAGGTGGAGGAAGGGGAGTCAGTGGTTCTGCCTTGCAACCCT
CCCCCAAGTGCAGAGCCTCTCCGGATCTACTGGATGAACAGCAAGATCTTGCACATCAAG
CAGGACGAGCGGGTGACGATGGGCCAGAACGGCAACCTCTACTTTGCCAATGTGCTCACC
TCCGACAACCACTCAGACTACATCTGCCACGCCCACTTCCCAGGCACCAGGACCATCATT
CAGAAGGAACCCATTGACCTCCGGGTCAAGGCCACCAACAGCATGATTGACAGGAAGCCG
CGCCTGCTCTTCCCCACCAACTCCAGCAGCCACCTGGTGGCCTTGCAGGGGCAGCCATTG
GTCCTGGAGTGCATCGCCGAGGGCTTTCCCACGCCCACCATCAAATGGCTGCGCCCCAGT
GGCCCCATGCCAGCCGACCGTGTCACCTACCAGAACCACAACAAGACCCTGCAGCTGCTG
AAAGTGGGCGAGGAGGATGATGGCGAGTACCGCTGCCTGGCCGAGAACTCACTGGGCAGT
GCCCGGCATGCGTACTATGTCACCGTGGAGGCTGCCCCGTACTGGCTGCACAAGCCCCAG
AGCCATCTATATGGGCCAGGAGAGACTGCCCGCCTGGACTGCCAAGTCCAGGGCAGGCCC
CAACCAGAGGTCACCTGGAGAATCAACGGGATCCCTGTGGAGGAGCTGGCCAAAGACCAG
AAGTACCGGATTCAGCGTGGCGCCCTGATCCTGAGCAACGTGCAGCCCAGTGACACAATG
GTGACCCAATGTGAGGCCCGCAACCGGCACGGGCTCTTGCTGGCCAATGCCTACATCTAC
GTTGTCCAGCTGCCAGCCAAGATCCTGACTGCGGACAATCAGACGTACATGGCTGTCCAG
GGCAGCACTGCCTACCTTCTGTGCAAGGCCTTCGGAGCGCCTGTGCCCAGTGTTCAGTGG
CTGGACGAGGATGGGACAACAGTGCTTCAGGACGAACGCTTCTTCCCCTATGCCAATGGG
ACCCTGGGCATTCGAGACCTCCAGGCCAATGACACCGGACGCTACTTCTGCCTGGCTGCC
AATGACCAAAACAATGTTACCATCATGGCTAACCTGAAGGTTAAAGATGCAACTCAGATC
ACTCAGGGGCCCCGCAGCACAATCGAGAAGAAAGGTTCCAGGGTGACCTTCACGTGCCAG
GCCTCCTTTGACCCCTCCTTGCAGCCCAGCATCACCTGGCGTGGGGACGGTCGAGACCTC
CAGGAGCTTGGGGACAGTGACAAGTACTTCATAGAGGATGGGCGCCTGGTCATCCACAGC
CTGGACTACAGCGACCAGGGCAACTACAGCTGCGTGGCCAGTACCGAACTGGATGTGGTG
GAGAGTAGGGCACAGCTCTTGGTGGTGGGGAGCCCTGGGCCGGTGCCACGGCTGGTGCTG
TCCGACCTGCACCTGCTGACGCAGAGCCAGGTGCGCGTGTCCTGGAGTCCTGCAGAAGAC
CACAATGCCCCCATTGAGAAATATGACATTGAATTTGAGGACAAGGAAATGGCGCCTGAA
AAATGGTACAGTCTGGGCAAGGTTCCAGGGAACCAGACCTCTACCACCCTCAAGCTGTCG
CCCTATGTCCACTACACCTTTAGGGTTACTGCCATAAACAAATATGGCCCCGGGGAGCCC
AGCCCGGTCTCTGAGACTGTGGTCACACCTGAGGCAGCCCCAGAGAAGAACCCTGTGGAT
GTGAAGGGGGAAGGAAATGAGACCACCAATATGGTCATCACGTGGAAGCCGCTCCGGTGG
ATGGACTGGAACGCCCCCCAGGTTCAGTACCGCGTGCAGTGGCGCCCTCAGGGGACACGA
GGGCCCTGGCAGGAGCAGATTGTCAGCGACCCCTTCCTGGTGGTGTCCAACACGTCCACC
TTCGTGCCCTATGAGATCAAAGTCCAGGCCGTCAACAGCCAGGGCAAGGGACCAGAGCCC
CAGGTCACTATCGGCTACTCTGGAGAGGACTACCCCCAGGCAATCCCTGAGCTGGAAGGC
ATTGAAATCCTCAACTCAAGTGCCGTGCTGGTCAAGTGGCGGCCGGTGGACCTGGCCCAG
GTCAAGGGCCACCTCCGCGGATACAATGTGACGTACTGGAGGGAGGGCAGTCAGAGGAAG
CACAGCAAGAGACATATCCACAAAGACCATGTGGTGGTGCCCGCCAACACCACCAGTGTC
ATCCTCAGTGGCTTGCGGCCCTATAGCTCCTACCACCTGGAGGTGCAGGCCTTTAACGGG
CGAGGATCGGGGCCCGCCAGCGAGTTCACCTTCAGCACCCCAGAGGGAGTGCCTGGCCAC
CCCGAGGCGTTGCACCTGGAGTGCCAGTCGAACACCAGCCTGCTGCTGCGCTGGCAGCCC
CCACTCAGCCACAACGGCGTGCTCACCGGCTACGTGCTCTCCTACCACCCCCTGGATGAG
GGGGGCAAGGGGCAACTGTCCTTCAACCTTCGGGACCCCGAACTTCGGACACACAACCTG
ACCGATCTCAGCCCCCACCTGCGGTACCGCTTCCAGCTTCAGGCCACCACCAAAGAGGGC
CCTGGTGAAGCCATCGTACGGGAAGGAGGCACTATGGCCTTGTCTGGGATCTCAGATTTT
GGCAACATCTCAGCCACAGCGGGTGAAAACTACAGTGTCGTCTCCTGGGTCCCCAAGGAG
GGCCAGTGCAACTTCAGGTTCCATATCTTGTTCAAAGCCTTGGGAGAAGAGAAGGGTGGG
GCTTCCCTTTCGCCACAGTATGTCAGCTACAACCAGAGCTCCTACACGCAGTGGGACCTG
CAGCCTGACACTGACTACGAGATCCACTTGTTTAAGGAGAGGATGTTCCGGCACCAAATG
GCTGTGAAGACCAATGGCACAGGCCGCGTGAGGCTCCCTCCTGCTGGCTTCGCCACTGAG
GGCTGGTTCATCGGCTTTGTGAGTGCCATCATCCTCCTGCTCCTCGTCCTGCTCATCCTC
TGCTTCATCAAGCGCAGCAAGGGCGGCAAATACTCAGTGAAGGATAAGGAGGACACCCAG
GTGGACTCTGAGGCCCGACCGATGAAAGATGAGACCTTCGGCGAGTACAGGTCCCTGGAG
AGTGACAACGAGGAGAAGGCCTTTGGCAGCAGCCAGCCATCGCTCAACGGGGACATCAAG
CCCCTGGGCAGTGACGACAGCCTGGCCGATTATGGGGGCAGCGTGGATGTTCAGTTCAAC
GAGGATGGTTCGTTCATTGGCCAGTACAGTGGCAAGAAGGAGAAGGAGGCGGCAGGGGGC
AATGACAGCTCAGGGGCCACTTCCCCCATCAACCCTGCCGTGGCCCTAGAATAG
Chromosome Location
X
Locus
Xq28
External Identifiers
ResourceLink
UniProtKB IDP32004
UniProtKB Entry NameL1CAM_HUMAN
GeneCard IDL1CAM
HGNC IDHGNC:6470
PDB ID(s)8AFO, 8AFP
KEGG IDhsa:3897
NCBI Gene ID3897
General References
  1. Kobayashi M, Miura M, Asou H, Uyemura K: Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin. Biochim Biophys Acta. 1991 Oct 8;1090(2):238-40. [Article]
  2. Hlavin ML, Lemmon V: Molecular structure and functional testing of human L1CAM: an interspecies comparison. Genomics. 1991 Oct;11(2):416-23. [Article]
  3. Reid RA, Hemperly JJ: Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA. J Mol Neurosci. 1992;3(3):127-35. [Article]
  4. Brenner V, Nyakatura G, Rosenthal A, Platzer M: Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse. Genomics. 1997 Aug 15;44(1):8-14. [Article]
  5. Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A: The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu. Gene. 1998 Feb 16;208(1):7-15. [Article]
  6. 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. [Article]
  7. 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. [Article]
  8. Wolff JM, Frank R, Mujoo K, Spiro RC, Reisfeld RA, Rathjen FG: A human brain glycoprotein related to the mouse cell adhesion molecule L1. J Biol Chem. 1988 Aug 25;263(24):11943-7. [Article]
  9. Djabali M, Mattei MG, Nguyen C, Roux D, Demengeot J, Denizot F, Moos M, Schachner M, Goridis C, Jordan BR: The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man. Genomics. 1990 Aug;7(4):587-93. [Article]
  10. Rosenthal A, MacKinnon RN, Jones DS: PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1). Nucleic Acids Res. 1991 Oct 11;19(19):5395-401. [Article]
  11. Harper JR, Prince JT, Healy PA, Stuart JK, Nauman SJ, Stallcup WB: Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region. J Neurochem. 1991 Mar;56(3):797-804. [Article]
  12. Wong EV, Schaefer AW, Landreth G, Lemmon V: Casein kinase II phosphorylates the neural cell adhesion molecule L1. J Neurochem. 1996 Feb;66(2):779-86. [Article]
  13. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [Article]
  14. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [Article]
  15. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [Article]
  16. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [Article]
  17. Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. [Article]
  18. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [Article]
  19. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  20. Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011 Mar 15;4(164):rs3. doi: 10.1126/scisignal.2001570. [Article]
  21. Marx M, Diestel S, Bozon M, Keglowich L, Drouot N, Bouche E, Frebourg T, Minz M, Saugier-Veber P, Castellani V, Schafer MK: Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus. Neurogenetics. 2012 Feb;13(1):49-59. doi: 10.1007/s10048-011-0307-4. Epub 2012 Jan 6. [Article]
  22. Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S: Toward a comprehensive characterization of a human cancer cell phosphoproteome. J Proteome Res. 2013 Jan 4;12(1):260-71. doi: 10.1021/pr300630k. Epub 2012 Dec 18. [Article]
  23. Jouet M, Rosenthal A, MacFarlane J, Kenwrick S, Donnai D: A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) Nat Genet. 1993 Aug;4(4):331. [Article]
  24. Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet. 1994 Dec;3(12):2255-6. [Article]
  25. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7. [Article]
  26. Vits L, Van Camp G, Coucke P, Fransen E, De Boulle K, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, et al.: MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet. 1994 Jul;7(3):408-13. [Article]
  27. Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S: New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet. 1995 Jun;56(6):1304-14. [Article]
  28. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet. 1995;3(5):273-84. [Article]
  29. Ruiz JC, Cuppens H, Legius E, Fryns JP, Glover T, Marynen P, Cassiman JJ: Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet. 1995 Jul;32(7):549-52. [Article]
  30. Izumoto S, Yamasaki M, Arita N, Hiraga S, Ohnishi T, Fujitani K, Sakoda S, Hayakawa T: A new mutation of the L1CAM gene in an X-linked hydrocephalus family. Childs Nerv Syst. 1996 Dec;12(12):742-7. [Article]
  31. Gu SM, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. J Med Genet. 1996 Feb;33(2):103-6. [Article]
  32. Gu SM, Orth U, Zankl M, Schroder J, Gal A: Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. Am J Med Genet. 1997 Aug 22;71(3):336-40. [Article]
  33. Fransen E, Van Camp G, Vits L, Willems PJ: L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum Mol Genet. 1997;6(10):1625-32. [Article]
  34. MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S: Nine novel L1 CAM mutations in families with X-linked hydrocephalus. Hum Mutat. 1997;9(6):512-8. [Article]
  35. Du YZ, Srivastava AK, Schwartz CE: Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Hum Mutat. 1998;11(3):222-30. [Article]
  36. Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ: Evidence for somatic and germline mosaicism in CRASH syndrome. Hum Mutat. 1998;Suppl 1:S284-7. [Article]
  37. Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Henocq A, Heron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frebourg T: Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Hum Mutat. 1998;12(4):259-66. [Article]
  38. Michaelis RC, Du YZ, Schwartz CE: The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. J Med Genet. 1998 Nov;35(11):901-4. [Article]
  39. Finckh U, Schroder J, Ressler B, Veske A, Gal A: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6. [Article]
  40. Sztriha L, Frossard P, Hofstra RM, Verlind E, Nork M: Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. J Child Neurol. 2000 Apr;15(4):239-43. [Article]
  41. Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA: Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? Am J Med Genet. 2002 Feb 15;108(1):51-6. [Article]
  42. Sztriha L, Vos YJ, Verlind E, Johansen J, Berg B: X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. Pediatr Neurol. 2002 Oct;27(4):293-6. [Article]
  43. Runker AE, Bartsch U, Nave KA, Schachner M: The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. J Neurosci. 2003 Jan 1;23(1):277-86. [Article]
  44. Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE: Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet. 2006 May;69(5):414-9. [Article]
  45. Simonati A, Boaretto F, Vettori A, Dabrilli P, Criscuolo L, Rizzuto N, Mostacciuolo ML: A novel missense mutation in the L1CAM gene in a boy with L1 disease. Neurol Sci. 2006 Jun;27(2):114-7. [Article]
  46. Schafer MK, Nam YC, Moumen A, Keglowich L, Bouche E, Kuffner M, Bock HH, Rathjen FG, Raoul C, Frotscher M: L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms. Neurobiol Dis. 2010 Oct;40(1):222-37. doi: 10.1016/j.nbd.2010.05.029. Epub 2010 May 31. [Article]
  47. Fernandez RM, Nunez-Torres R, Garcia-Diaz L, de Agustin JC, Antinolo G, Borrego S: Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. Am J Med Genet A. 2012 Apr;158A(4):816-20. doi: 10.1002/ajmg.a.35244. Epub 2012 Feb 17. [Article]
  48. Tagliavacca L, Colombo F, Racchetti G, Meldolesi J: L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. J Neurochem. 2013 Feb;124(3):397-409. doi: 10.1111/jnc.12015. Epub 2012 Dec 10. [Article]
  49. Kudumala S, Freund J, Hortsch M, Godenschwege TA: Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. PLoS One. 2013 Oct 14;8(10):e76974. doi: 10.1371/journal.pone.0076974. eCollection 2013. [Article]
  50. Christaller WA, Vos Y, Gebre-Medhin S, Hofstra RM, Schafer MK: L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. Epub 2016 Mar 15. [Article]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
EthanolapprovedunknowntargetDetails