L1CAM

• L1細胞接着分子

関

cell adhesion molecule L1、L1 cell adhesion molecule、neural cell adhesion molecule L1

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/08/04 14:35:15」(JST)

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L1CAM
Identifiers
Aliases	L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1 cell adhesion molecule
External IDs	MGI: 96721 HomoloGene: 20128 GeneCards: 3897
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3897	16728
Ensembl	ENSG00000198910	ENSMUSG00000031391
UniProt	P32004	P11627
RefSeq (mRNA)	NM_024003 NM_000425 NM_001143963 NM_001278116	NM_008478
RefSeq (protein)	NP_000416.1 NP_001137435.1 NP_001265045.1 NP_076493.1	n/a
Location (UCSC)	Chr X: 153.86 – 153.91 Mb	Chr X: 73.85 – 73.9 Mb
PubMed search
Wikidata
View/Edit Human		View/Edit Mouse

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).

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin superfamily of proteins. 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.

Interactions

L1 (protein) has been shown to interact with NUMB.

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:10.1093/hmg/6.10.1625. 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:10.1002/humu.1144. PMID 11438988. 
• Bearer CF (2002). "L1 cell adhesion molecule signal cascades: targets for ethanol developmental neurotoxicity". Neurotoxicology. 22 (5): 625–33. doi:10.1016/S0161-813X(01)00034-1. 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:10.2741/1108. 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:10.1038/ng1092-107. 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. doi:10.1007/BF02919404. PMID 1627459. 
• Hlavin ML, Lemmon V (1992). "Molecular structure and functional testing of human L1CAM: an interspecies comparison". Genomics. 11 (2): 416–23. doi:10.1016/0888-7543(91)90150-D. 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. doi:10.1136/jmg.28.6.429-a. PMC 1016918. 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:10.1093/nar/19.19.5395. PMC 328904. 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. doi:10.1016/0167-4781(91)90108-X. 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:10.1111/j.1471-4159.1991.tb01994.x. 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:10.1016/0888-7543(90)90203-7. 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:10.1083/jcb.125.3.669. PMC 2119998. 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. doi:10.1136/jmg.32.7.549. PMC 1050549. 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. doi:10.1046/j.1471-4159.1995.65052307.x. 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. PMC 1801103. 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:10.1093/hmg/3.12.2255. 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:10.1038/ng0794-402. PMID 7920659. 

External links

• GeneReviews/NCBI/NIH/UW entry on L1 Syndrome
• L1 Cell Adhesion Molecule at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

UpToDate Contents

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• 1. 胎児脳室拡大 fetal cerebral ventriculomegaly
• 2. 慢性偽性腸閉塞 chronic intestinal pseudo obstruction
• 3. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
• 4. 遺伝性痙性対麻痺 hereditary spastic paraplegia

English Journal

• L1CAM in human cancer.

• Altevogt P1, Doberstein K2, Fogel M3.
• International journal of cancer. Journal international du cancer.Int J Cancer.2016 Apr 1;138(7):1565-76. doi: 10.1002/ijc.29658. Epub 2015 Aug 25.
• L1 cell adhesion molecule (L1CAM) is one of the first neural adhesion molecules described with important functions in the development of the nervous system. Subsequent work discovered that L1CAM is expressed in many human cancers and is often associated with bad prognosis. This is most likely due to
• PMID 26111503

• Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites.

• Lim B1, Kim C2,3, Kim JH4, Kwon WS3, Lee WS3, Kim JM3, Park JY5, Kim HS2, Park KH3, Kim TS3, Park JL4, Chung HC2,3,6, Rha SY2,3,6, Kim SY1,7.
• Oncotarget.Oncotarget.2016 Jan 22. doi: 10.18632/oncotarget.6977. [Epub ahead of print]
• Peritoneal carcinomatosis accompanied by malignant ascites is a major cause of death of advanced gastric cancer (GC). To comprehensively characterize the underlying genomic events involved in GC peritoneal carcinomatosis, we analyzed whole-exome sequences of normal gastric tissues, primary tumors, a
• PMID 26811494

• Generation, characterization and preclinical studies of a human anti-L1CAM monoclonal antibody that cross-reacts with rodent L1CAM.

• Cho S1,2, Park I3, Kim H2, Jeong MS4, Lim M4, Lee ES2, Kim JH2, Kim S3, Hong HJ2,4.
• mAbs.MAbs.2016 Jan 19:0. [Epub ahead of print]
• L1 cell adhesion molecule (L1CAM) is aberrantly expressed in malignant tumors and plays important roles in tumor progression. Thus, L1CAM could serve as a therapeutic target and anti-L1CAM antibodies may have potential as anticancer agents. However, L1CAM is expressed in neural cells and the druggab
• PMID 26785809

Japanese Journal

• Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases

• YAMASAKI Mami,KANEMURA Yonehiro
• Neurologia medico-chirurgica 55(8), 640-646, 2015
• … XLH is single gene disorder caused by mutations in the neural cell adhesion molecule-encoding L1CAM (L1) gene. …
• NAID 130005093133

• Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases

• YAMASAKI Mami,KANEMURA Yonehiro
• Neurologia medico-chirurgica advpub(0), 2015
• … XLH is single gene disorder caused by mutations in the neural cell adhesion molecule-encoding L1CAM (L1) gene. …
• NAID 130005091045

• いつ読む? いま読む! もう読んだ? 今月の注目症例報告(vol.3)L1CAM遺伝子異常が関与する先天性水頭症

• 津田 玲子
• ネオネイタルケア 27(9), 925-927, 2014-09
• NAID 40020193427

Related Links

• L1CAM - L1 cell adhesion molecule - Genetics Home Reference

L1 syndrome - caused by mutations in the L1CAM gene There are about 200 mutations in the L1CAM gene that cause L1 syndrome. These mutations change the structure of the L1 protein or disrupt its production.

• L1CAM Gene - GeneCards | L1CAM Protein | L1CAM Antibody

Complete information for L1CAM gene (Protein Coding), L1 Cell Adhesion Molecule, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... A. gosspyii yeast ...

Related Pictures

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★リンクテーブル★

リンク元	「L1 cell adhesion molecule」「cell adhesion molecule L1」「neural cell adhesion molecule L1」「L1細胞接着分子」

「L1 cell adhesion molecule」

　　[★]

L1細胞接着分子

関

cell adhesion molecule L1、L1CAM、neural cell adhesion molecule L1

「cell adhesion molecule L1」

　　[★]

細胞接着分子L1

関

L1 cell adhesion molecule、L1CAM、neural cell adhesion molecule L1

「neural cell adhesion molecule L1」

　　[★]

神経細胞接着分子L1

関

cell adhesion molecule L1、L1 cell adhesion molecule、L1CAM

「L1細胞接着分子」

　　[★]

英

L1 cell adhesion molecule、L1CAM

関

神経細胞接着分子L1、細胞接着分子L1