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L1 cell adhesion molecule
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| Identifiers | ||||||||||||||
| Symbols | L1CAM; CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAML1; S10; SPG1 | |||||||||||||
| External IDs | OMIM: 308840 MGI: 96721 HomoloGene: 20128 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 3897 | 16728 | ||||||||||||
| Ensembl | ENSG00000198910 | ENSMUSG00000031391 | ||||||||||||
| Uniprot | P32004 | Q6PGJ3 | ||||||||||||
| Refseq | NM_000425 (mRNA) NP_000416 (protein) |
NM_008478 (mRNA) NP_032504 (protein) |
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| Location | Chr X: 152.78 - 152.8 Mb | Chr X: 70.11 - 70.13 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
L1 also known as L1CAM is a transmembrane protein; it is a neuronal cell adhesion molecule, member of the L1 protein family. 200-220 kDa. 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).
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.[1]
References
Further reading
- Fransen E, Lemmon V, Van Camp G, et al. (1996). "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. 3 (5): 273–84. PMID 8556302.
- Fransen E, Van Camp G, Vits L, Willems PJ (1997). "L1-associated diseases: clinical geneticists divide, molecular geneticists unite". Hum. Mol. Genet. 6 (10): 1625–32. doi:. PMID 9300653.
- Weller S, Gärtner J (2001). "Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene". Hum. Mutat. 18 (1): 1–12. doi:. PMID 11438988.
- Bearer CF (2002). "L1 cell adhesion molecule signal cascades: targets for ethanol developmental neurotoxicity". Neurotoxicology 22 (5): 625–33. doi:. PMID 11770884.
- Haspel J, Grumet M (2003). "The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes". Front. Biosci. 8: s1210–25. doi:. PMID 12957823.
- Rosenthal A, Jouet M, Kenwrick S (1993). "Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus". Nat. Genet. 2 (2): 107–12. doi:. PMID 1303258.
- Reid RA, Hemperly JJ (1992). "Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA". J. Mol. Neurosci. 3 (3): 127–35. PMID 1627459.
- Hlavin ML, Lemmon V (1992). "Molecular structure and functional testing of human L1CAM: an interspecies comparison". Genomics 11 (2): 416–23. PMID 1769655.
- Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H (1991). "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". J. Med. Genet. 28 (6): 429–31. PMID 1870106.
- Rosenthal A, MacKinnon RN, Jones DS (1991). "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. 19 (19): 5395–401. doi:. PMID 1923824.
- Kobayashi M, Miura M, Asou H, Uyemura K (1991). "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 1090 (2): 238–40. PMID 1932117.
- Harper JR, Prince JT, Healy PA, et al. (1991). "Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region". J. Neurochem. 56 (3): 797–804. doi:. PMID 1993895.
- Djabali M, Mattei MG, Nguyen C, et al. (1990). "The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man". Genomics 7 (4): 587–93. doi:. PMID 2387585.
- Wolff JM, Frank R, Mujoo K, et al. (1988). "A human brain glycoprotein related to the mouse cell adhesion molecule L1". J. Biol. Chem. 263 (24): 11943–7. PMID 3136168.
- Friedlander DR, Milev P, Karthikeyan L, et al. (1994). "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". J. Cell Biol. 125 (3): 669–80. doi:. PMID 7513709.
- Ruiz JC, Cuppens H, Legius E, et al. (1995). "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS". J. Med. Genet. 32 (7): 549–52. PMID 7562969.
- Olive S, Dubois C, Schachner M, Rougon G (1995). "The F3 neuronal glycosylphosphatidylinositol-linked molecule is localized to glycolipid-enriched membrane subdomains and interacts with L1 and fyn kinase in cerebellum". J. Neurochem. 65 (5): 2307–17. PMID 7595520.
- Jouet M, Moncla A, Paterson J, et al. (1995). "New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome". Am. J. Hum. Genet. 56 (6): 1304–14. PMID 7762552.
- Fransen E, Schrander-Stumpel C, Vits L, et al. (1995). "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. 3 (12): 2255–6. doi:. PMID 7881431.
- Jouet M, Rosenthal A, Armstrong G, et al. (1994). "X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene". Nat. Genet. 7 (3): 402–7. doi:. PMID 7920659.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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