L1 (protein)

L1, also known as L1CAM, is a transmembrane protein; it is a neuronal cell adhesion molecule, member of the L1 protein family, of 200-220 kDa, and involved in axon guidance and cell migration with a strong implication in treatment-resistant cancers.

L1CAM has also been designated CD171 (cluster of differentiation 171).

PBB_Summary
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summary_text = The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration, and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [cite web | title = Entrez Gene: L1CAM L1 cell adhesion molecule| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3897| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Fransen E, Lemmon V, Van Camp G, "et al." |title=CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1 |journal=Eur. J. Hum. Genet. |volume=3 |issue= 5 |pages= 273–84 |year= 1996 |pmid= 8556302 |doi=
*cite journal | author=Fransen E, Van Camp G, Vits L, Willems PJ |title=L1-associated diseases: clinical geneticists divide, molecular geneticists unite |journal=Hum. Mol. Genet. |volume=6 |issue= 10 |pages= 1625–32 |year= 1997 |pmid= 9300653 |doi=10.1093/hmg/6.10.1625
*cite journal | author=Weller S, Gärtner J |title=Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene |journal=Hum. Mutat. |volume=18 |issue= 1 |pages= 1–12 |year= 2001 |pmid= 11438988 |doi= 10.1002/humu.1144
*cite journal | author=Bearer CF |title=L1 cell adhesion molecule signal cascades: targets for ethanol developmental neurotoxicity |journal=Neurotoxicology |volume=22 |issue= 5 |pages= 625–33 |year= 2002 |pmid= 11770884 |doi=10.1016/S0161-813X(01)00034-1
*cite journal | author=Haspel J, Grumet M |title=The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes |journal=Front. Biosci. |volume=8 |issue= |pages= s1210–25 |year= 2003 |pmid= 12957823 |doi=10.2741/1108
*cite journal | author=Rosenthal A, Jouet M, Kenwrick S |title=Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus |journal=Nat. Genet. |volume=2 |issue= 2 |pages= 107–12 |year= 1993 |pmid= 1303258 |doi= 10.1038/ng1092-107
*cite journal | author=Reid RA, Hemperly JJ |title=Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA |journal=J. Mol. Neurosci. |volume=3 |issue= 3 |pages= 127–35 |year= 1992 |pmid= 1627459 |doi=
*cite journal | author=Hlavin ML, Lemmon V |title=Molecular structure and functional testing of human L1CAM: an interspecies comparison |journal=Genomics |volume=11 |issue= 2 |pages= 416–23 |year= 1992 |pmid= 1769655 |doi=
*cite journal | author=Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H |title=X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28 |journal=J. Med. Genet. |volume=28 |issue= 6 |pages= 429–31 |year= 1991 |pmid= 1870106 |doi=
*cite journal | author=Rosenthal A, MacKinnon RN, Jones DS |title=PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1) |journal=Nucleic Acids Res. |volume=19 |issue= 19 |pages= 5395–401 |year= 1991 |pmid= 1923824 |doi=10.1093/nar/19.19.5395
*cite journal | author=Kobayashi M, Miura M, Asou H, Uyemura K |title=Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin |journal=Biochim. Biophys. Acta |volume=1090 |issue= 2 |pages= 238–40 |year= 1991 |pmid= 1932117 |doi=
*cite journal | author=Harper JR, Prince JT, Healy PA, "et al." |title=Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region |journal=J. Neurochem. |volume=56 |issue= 3 |pages= 797–804 |year= 1991 |pmid= 1993895 |doi=10.1111/j.1471-4159.1991.tb01994.x
*cite journal | author=Djabali M, Mattei MG, Nguyen C, "et al." |title=The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man |journal=Genomics |volume=7 |issue= 4 |pages= 587–93 |year= 1990 |pmid= 2387585 |doi=10.1016/0888-7543(90)90203-7
*cite journal | author=Wolff JM, Frank R, Mujoo K, "et al." |title=A human brain glycoprotein related to the mouse cell adhesion molecule L1 |journal=J. Biol. Chem. |volume=263 |issue= 24 |pages= 11943–7 |year= 1988 |pmid= 3136168 |doi=
*cite journal | author=Friedlander DR, Milev P, Karthikeyan L, "et al." |title=The neuronal chondroitin sulfate proteoglycan neurocan binds to the neural cell adhesion molecules Ng-CAM/L1/NILE and N-CAM, and inhibits neuronal adhesion and neurite outgrowth |journal=J. Cell Biol. |volume=125 |issue= 3 |pages= 669–80 |year= 1994 |pmid= 7513709 |doi=10.1083/jcb.125.3.669
*cite journal | author=Ruiz JC, Cuppens H, Legius E, "et al." |title=Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS |journal=J. Med. Genet. |volume=32 |issue= 7 |pages= 549–52 |year= 1995 |pmid= 7562969 |doi=
*cite journal | author=Olive S, Dubois C, Schachner M, Rougon G |title=The F3 neuronal glycosylphosphatidylinositol-linked molecule is localized to glycolipid-enriched membrane subdomains and interacts with L1 and fyn kinase in cerebellum |journal=J. Neurochem. |volume=65 |issue= 5 |pages= 2307–17 |year= 1995 |pmid= 7595520 |doi=
*cite journal | author=Jouet M, Moncla A, Paterson J, "et al." |title=New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome |journal=Am. J. Hum. Genet. |volume=56 |issue= 6 |pages= 1304–14 |year= 1995 |pmid= 7762552 |doi=
*cite journal | author=Fransen E, Schrander-Stumpel C, Vits L, "et al." |title=X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene |journal=Hum. Mol. Genet. |volume=3 |issue= 12 |pages= 2255–6 |year= 1995 |pmid= 7881431 |doi=10.1093/hmg/3.12.2255
*cite journal | author=Jouet M, Rosenthal A, Armstrong G, "et al." |title=X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene |journal=Nat. Genet. |volume=7 |issue= 3 |pages= 402–7 |year= 1994 |pmid= 7920659 |doi= 10.1038/ng0794-402

External links

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