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Gene Review

L1CAM  -  L1 cell adhesion molecule

Homo sapiens

Synonyms: CAML1, CD171, HSAS, HSAS1, MASA, ...
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Disease relevance of L1CAM


Psychiatry related information on L1CAM


High impact information on L1CAM


Chemical compound and disease context of L1CAM

  • Inhibition of the functions of L1 cell adhesion molecule (L1) by ethanol has been implicated in the pathogenesis of the neurodevelopmental aspects of the fetal alcohol syndrome (FAS) [7].
  • By analysing L1 (CD171) and CD44 in ovarian carcinoma cells, we show in the present paper that the cleavage induced by ionomycin, APMA (4-aminophenylmercuric acetate) or MCD (methyl-beta-cyclodextrin) is initiated in an endosomal compartment that is subsequently released in the form of exosomes [8].
  • A penicillin-resistant mutant, JH2-2r (MIC 75 microg ml(-1)), was isolated from Enterococcus faecalis JH2-2 (MIC 5 microg ml(-1)) by successive passages on plates containing increasing concentrations of benzylpenicillin [9].
  • Z- and Fmoc-L-tetrahydrofuranylglycines have been obtained from L-vinylglycine through dipolar cycloaddition reaction, and its Fmoc derivative has been applied in the synthesis of modified S9 and S10 substrates of HIV-1 protease [10].

Biological context of L1CAM


Anatomical context of L1CAM


Associations of L1CAM with chemical compounds


Other interactions of L1CAM

  • The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1CAM and MECP2 genes [26].
  • The ALD gene has been positioned on a pulsed-field map between DXS15 and the L1CAM gene, about 650 kb upstream from the color pigment genes [27].
  • Linkage analysis studies implicated the neural cell adhesion molecule L1 (L1CAM) gene as a candidate gene for these X-linked disorders [28].
  • Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions [29].
  • Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52 [30].

Analytical, diagnostic and therapeutic context of L1CAM


  1. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V., Temple, K., Kenwrick, S. Nat. Genet. (1994) [Pubmed]
  2. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. De Angelis, E., Watkins, A., Schäfer, M., Brümmendorf, T., Kenwrick, S. Hum. Mol. Genet. (2002) [Pubmed]
  3. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? Parisi, M.A., Kapur, R.P., Neilson, I., Hofstra, R.M., Holloway, L.W., Michaelis, R.C., Leppig, K.A. Am. J. Med. Genet. (2002) [Pubmed]
  4. Expression of L1-CAM and ADAM10 in human colon cancer cells induces metastasis. Gavert, N., Sheffer, M., Raveh, S., Spaderna, S., Shtutman, M., Brabletz, T., Barany, F., Paty, P., Notterman, D., Domany, E., Ben-Ze'ev, A. Cancer Res. (2007) [Pubmed]
  5. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Vits, L., Van Camp, G., Coucke, P., Fransen, E., De Boulle, K., Reyniers, E., Korn, B., Poustka, A., Wilson, G., Schrander-Stumpel, C. Nat. Genet. (1994) [Pubmed]
  6. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J.M., Le Merrer, M., Gil, R., Boespflug-Tanguy, O. Nat. Genet. (1994) [Pubmed]
  7. Ethanol inhibits L1 cell adhesion molecule activation of mitogen-activated protein kinases. Tang, N., He, M., O'Riordan, M.A., Farkas, C., Buck, K., Lemmon, V., Bearer, C.F. J. Neurochem. (2006) [Pubmed]
  8. A role for exosomes in the constitutive and stimulus-induced ectodomain cleavage of L1 and CD44. Stoeck, A., Keller, S., Riedle, S., Sanderson, M.P., Runz, S., Le Naour, F., Gutwein, P., Ludwig, A., Rubinstein, E., Altevogt, P. Biochem. J. (2006) [Pubmed]
  9. The penicillin resistance of Enterococcus faecalis JH2-2r results from an overproduction of the low-affinity penicillin-binding protein PBP4 and does not involve a psr-like gene. Duez, C., Zorzi, W., Sapunaric, F., Amoroso, A., Thamm, I., Coyette, J. Microbiology (Reading, Engl.) (2001) [Pubmed]
  10. An expedient synthesis of N(alpha)-protected-L-tetrahydrofuranylglycine and its application in the synthesis of novel substrate based inhibitors of HIV-1 protease. Rajesh, S., Ami, E., Kotake, T., Kimura, T., Hayashi, Y., Kiso, Y. Bioorg. Med. Chem. Lett. (2002) [Pubmed]
  11. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Fransen, E., Schrander-Stumpel, C., Vits, L., Coucke, P., Van Camp, G., Willems, P.J. Hum. Mol. Genet. (1994) [Pubmed]
  12. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Saugier-Veber, P., Martin, C., Le Meur, N., Lyonnet, S., Munnich, A., David, A., Hénocq, A., Héron, D., Jonveaux, P., Odent, S., Manouvrier, S., Moncla, A., Morichon, N., Philip, N., Satge, D., Tosi, M., Frébourg, T. Hum. Mutat. (1998) [Pubmed]
  13. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. Gu, S.M., Orth, U., Veske, A., Enders, H., Klunder, K., Schlosser, M., Engel, W., Schwinger, E., Gal, A. J. Med. Genet. (1996) [Pubmed]
  14. Genotype-phenotype correlation in L1 associated diseases. Fransen, E., Van Camp, G., D'Hooge, R., Vits, L., Willems, P.J. J. Med. Genet. (1998) [Pubmed]
  15. Molecular structure and functional testing of human L1CAM: an interspecies comparison. Hlavin, M.L., Lemmon, V. Genomics (1991) [Pubmed]
  16. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Takahashi, S., Makita, Y., Okamoto, N., Miyamoto, A., Oki, J. Brain Dev. (1997) [Pubmed]
  17. Prenatal diagnosis in a family with X-linked hydrocephalus. Panayi, M., Gokhale, D., Mansour, S., Elles, R. Prenat. Diagn. (2005) [Pubmed]
  18. Adhesion molecules CD171 (L1CAM) and CD24 are expressed by primary neuroendocrine carcinomas of the skin (Merkel cell carcinomas). Deichmann, M., Kurzen, H., Egner, U., Altevogt, P., Hartschuh, W. J. Cutan. Pathol. (2003) [Pubmed]
  19. An association study between polymorphism of L1CAM gene and schizophrenia in a Japanese sample. Kurumaji, A., Nomoto, H., Okano, T., Toru, M. Am. J. Med. Genet. (2001) [Pubmed]
  20. Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells. Jouet, M., Rosenthal, A., Kenwrick, S. Brain Res. Mol. Brain Res. (1995) [Pubmed]
  21. L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Fransen, E., Van Camp, G., Vits, L., Willems, P.J. Hum. Mol. Genet. (1997) [Pubmed]
  22. A new mutation of the L1CAM gene in an X-linked hydrocephalus family. Izumoto, S., Yamasaki, M., Arita, N., Hiraga, S., Ohnishi, T., Fujitani, K., Sakoda, S., Hayakawa, T. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (1996) [Pubmed]
  23. Purification, crystallization and preliminary X-ray diffraction analysis of human enolase-phosphatase E1. Wang, H., Pang, H., Ding, Y., Li, Y., Wu, X., Rao, Z. Acta Crystallograph. Sect. F Struct. Biol. Cryst. Commun. (2005) [Pubmed]
  24. The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation. Tuvia, S., Garver, T.D., Bennett, V. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  25. Detection of single-nucleotide mutations including substitutions and deletions by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Wada, Y., Yamamoto, M. Rapid Commun. Mass Spectrom. (1997) [Pubmed]
  26. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Van Esch, H., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M., Hollanders, K., Lugtenberg, D., Bienvenu, T., Jensen, L.R., Gecz, J., Moraine, C., Marynen, P., Fryns, J.P., Froyen, G. Am. J. Hum. Genet. (2005) [Pubmed]
  27. Genomic organization of the adrenoleukodystrophy gene. Sarde, C.O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.L. Genomics (1994) [Pubmed]
  28. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. Takechi, T., Tohyama, J., Kurashige, T., Maruta, K., Uyemura, K., Ohi, T., Matsukura, S., Sakuragawa, N. Hum. Genet. (1996) [Pubmed]
  29. Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions. Needham, L.K., Thelen, K., Maness, P.F. J. Neurosci. (2001) [Pubmed]
  30. Refining the genetic location of the gene for X linked hydrocephalus within Xq28. Jouet, M., Feldman, E., Yates, J., Donnai, D., Paterson, J., Siggers, D., Kenwrick, S. J. Med. Genet. (1993) [Pubmed]
  31. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Du, Y.Z., Srivastava, A.K., Schwartz, C.E. Hum. Mutat. (1998) [Pubmed]
  32. Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus. Yamasaki, M., Shohuda, T., Sakamoto, H., Nonaka, M., Kanemura, Y. Cerebrospinal fluid research (2006) [Pubmed]
  33. Brainstem diffusion-weighted MRI in boys with L1CAM mutations. Graf, W.D., Born, D.E., Shaw, D.W., Thomas, J.R., Holloway, L.W., Michaelis, R.C. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie. (1999) [Pubmed]
  34. The innervation of human bowel mucosa and its alterations in Hirschsprung's disease using a whole-mount preparation technique. Nemeth, L., Puri, P. Pediatr. Surg. Int. (2000) [Pubmed]
  35. L1-dependent neuritogenesis involves ankyrinB that mediates L1-CAM coupling with retrograde actin flow. Nishimura, K., Yoshihara, F., Tojima, T., Ooashi, N., Yoon, W., Mikoshiba, K., Bennett, V., Kamiguchi, H. J. Cell Biol. (2003) [Pubmed]
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