.. _L1CAM: L1CAM ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: L1 cell adhesion molecule :Entrez Gene ID: 3897 :Location: Xq28 :Synonyms: SPG1, CD171, NCAM-L1, MASA, MIC5, S10, CAML1, HSAS1, N-CAM-L1, N-CAML1, HSAS :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+------------+ | SNP | Distance (bp) | Direction | +===========+===============+============+ | rs3020789 | 233984 | downstream | +-----------+---------------+------------+ .. _L1CAM Gene summary: NCBI Summary ************ 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. [provided by RefSeq, Jul 2008] .. _OMIM ID 308840 : http://omim.org/entry/308840 .. _L1CAM OMIM Text: OMIM **** :OMIM ID: `OMIM ID 308840 `_ **Allelic Variants (Selected Examples)** .0001 HYDROCEPHALUS, X-LINKED The mutation in the L1CAM gene identified by Rosenthal et al. (1992) in affected members and carriers in 1 family with X-linked hydrocephalus (307000) was an A-to-C transversion at position -19 in a putative branchpoint sequence of the L1CAM gene. The mutation resulted in aberrant splicing with deletion of exon Q and insertion of 69 additional basepairs. .0002 HYDROCEPHALUS, X-LINKED In a patient with severe X-linked hydrocephalus (307000), Jouet et al. (1993) observed a G-to-A transition at nucleotide 791 of the cDNA sequence, resulting in a cys264-to-tyr substitution in the third immunoglobulin type C2 domain of the mature protein. The mutation would eliminate the potential for disulfide bridge formation and have a profound effect on L1 secondary structure. From analogy to NCAM (116930) and from the conservation of cys264 in analogous proteins of rat, mouse, chicken, and Drosophila, one can conclude that the mutation was probably disruptive. Furthermore, an RsaI site created by the mutation segregated fully with the disease in the extended pedigree and did not correspond to a common polymorphism. .0003 HYDROCEPHALUS, X-LINKED Van Camp et al. (1993) screened 25 X-linked hydrocephalus (307000) families for mutations. The mutation reported by Rosenthal et al. (1992) was found in none of them. One family, however, showed a 1.3-kb genomic duplication in the 3-prime region of L1CAM. The 1.3-kb duplication comprised the 3-prime end of the L1CAM open reading frame, part of the upstream intron, and 756 bp of 3-prime untranslated sequence. Van Camp et al. (1993) showed that the duplication gives rise to aberrant splicing of L1CAM mRNA and that translation of the new mRNA replaces the 35 carboxy-terminal amino acids of the L1CAM protein with a new 75-amino acid sequence. .0004 MASA SYNDROME In an affected member of a family with the MASA syndrome (303350), Jouet et al. (1994) observed a C-to-G transversion at nucleotide 630 converting his to gln at amino acid residue 210. The change occurred in exon 6 and produced a change in the protein in the second immunoglobulin domain of L1. All 5 affected members of the family had agenesis of the corpus callosum, and 1 of these also presented with marked hydrocephalus. .0005 MASA SYNDROME In the course of L1CAM mutation analysis in 8 unrelated patients with MASA syndrome (303350), Vits et al. (1994) found 3 different L1CAM mutations: a deletion removing part of the open reading frame and 2 point mutations resulting in amino acid substitutions. The 2 missense mutations were asp598 to asn (D598N) in the sixth immunoglobulin domain of the protein; and his210 to gln (H210Q) (308840.0004) in the second immunoglobulin domain. .0006 HYDROCEPHALUS, X-LINKED In a family with a history of hydrocephalus (307000), Jouet et al. (1994) found a G-to-A mutation in exon 11 of the L1CAM gene that caused a gly-to-arg substitution at residue 452. .0007 HYDROCEPHALUS, X-LINKED In the original hydrocephalus (307000) family described by Bickers and Adams (1949) and further characterized by Edwards et al. (1961), Jouet et al. (1994) used SSCP to detect a G-to-A change in exon 6 that substituted gln for arg at residue 184. .0008 MASA SYNDROME In a family reported by Kenwrick et al. (1986) as having spastic paraplegia-1, but later determined to have MASA syndrome (303350), Jouet et al. (1994) found a 2-bp deletion in exon 26 which resulted in a shift of the reading frame and the introduction of a premature stop codon 19 nucleotides downstream. This change predicts a truncated protein in which 95 of the 115 highly conserved amino acids are replaced by 7 novel residues. .0009 HYDROCEPHALUS, X-LINKED Fransen et al. (1994) reported a family in which 2 males, an uncle and a nephew, had typical symptoms of MASA syndrome, and a third male, a maternal first cousin of the uncle, was born hydrocephalic (307000) and died at the age of 15 years in an institution for the mentally handicapped. At that time, he had extreme macrocephaly, severe spasticity, and mental retardation. The same L1CAM mutation was found in all 3 cases. A C-to-T transition in exon 28 at position 3581 of the L1CAM cDNA sequence caused a ser1194-to-leu substitution in the cytoplasmic domain of the L1CAM molecule. .0010 CRASH SYNDROME In a family reported by Fryns et al. (1991) in which various members displayed features characteristic of complicated spastic paraplegia (182600), MASA syndrome (303350), or X-linked hydrocephalus due to aqueduct stenosis (307000), Ruiz et al. (1995) found an I179S mutation in the L1CAM gene. .0011 CRASH SYNDROME In a large family described by Kaepernick et al. (1994) in which different members displayed features consistent with one or another of the 3 L1CAM-associated syndromes, spastic paraplegia type 1 (312900), MASA syndrome (303350), or X-linked hydrocephalus (307000), Ruiz et al. (1995) identified a G370R mutation in the L1CAM gene in all affected members. .0012 HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE In a child with features of X-linked hydrocephalus (307000) who also had Hirschsprung disease and cleft palate, Okamoto et al. (1997) identified a 2-bp deletion of exon 18 in the L1CAM gene, resulting in a frameshift and premature termination was found. The mother was heterozygous for this mutation. Okamoto et al. (1997) acknowledged that X-linked hydrocephalus and Hirschsprung disease may be independent events in this patient, but suggested that L1CAM may contribute to both phenotypes. .0013 HYDROCEPHALUS, X-LINKED In a family with X-linked hydrocephalus (307000), Du et al. (1998) identified a C-to-T transition at position 924 in exon 8 of the L1CAM gene. This was predicted to have no effect on protein structure, as it affected the third position of a glycine codon (G308G). However, the C-to-T transition created a potential 5-prime splice site consensus sequence resulting in an in-frame 69-bp deletion from exon 8 with a consequent 23 amino acid deletion. RT-PCR of RNA from an affected male fetus confirmed the use of the new splice site. .0014 HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE Parisi et al. (2002) described a male infant who had severe hydrocephalus (307000) identified in the prenatal period with evidence of aqueductal stenosis and adducted thumbs at birth. He developed chronic constipation, and rectal biopsy confirmed the diagnosis of Hirschsprung disease. Molecular testing of the L1CAM gene demonstrated a 2254G-A mutation, resulting in a val752-to-met amino acid substitution (V752M). A common polymorphism in RET, but no mutation, was identified. Parisi et al. (2002) stated that this patient represented the third example of coincident hydrocephalus and Hirschsprung disease in an individual with an identified L1CAM mutation. They hypothesized that L1CAM-mediated cell adhesion may be important for the ability of ganglion cell precursors to populate the gut, and that L1CAM may modify the effects of a Hirschsprung disease-associated gene to cause intestinal aganglionosis. .0015 HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE In 2 brothers with hydrocephalus (307000) and Hirschsprung disease, Okamoto et al. (2004) identified a G-to-A transition at position +5 of the donor splice site of intron 15 of the L1CAM gene (IVS15+5G-A). Bilateral adducted thumbs and flexion contracture of the fingers were noted. The mother was heterozygous for the mutation; male first cousins and a maternal uncle of hers had X-linked hydrocephalus only. .0016 HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION Bott et al. (2004) described an association between hydrocephalus due to stenosis of the aqueduct of Sylvius (307000) and a form of congenital idiopathic intestinal pseudoobstruction (see 300048) in which Cajal cells were lacking in an infant in whom they identified a 2920G-T transversion in exon 22 of the L1CAM gene, resulting in a gln974-to-ter (Q974X) substitution. The mother was a carrier. A maternal great uncle had mental retardation and died during childhood. By fetal ultrasonography, the patient was found at 32 weeks' gestation to have hydrocephalus and was born prematurely at 34 weeks' gestation as a result of maternal eclampsia. At birth, bilateral adducted thumbs, bilateral nystagmus, convergent strabismus, spastic paraplegia, and abdominal distention were noted. The patient's mother and grandmother had had several spontaneous abortions. Bott et al. (2004) noted that Cajal cells are the pacemaker cells of the gut. They generate the physiologic slow waves in the intestinal tract that are responsible for autonomic gastrointestinal motility (Jain et al., 2003). The KIT oncogene (164920) encodes a protein responsible for the development of Cajal cells. Bott et al. (2004) suggested that the selective expression of L1CAM in the gut or kidney may explain the association of HSAS with hydronephrosis and with hydroureter or Hirschsprung disease. .0017 HYDROCEPHALUS, X-LINKED In 4 affected males from a family with X-linked hydrocephalus (307000), Gu et al. (1996) identified a 719C-T transition in exon 7 of the L1CAM gene, resulting in a pro240-to-leu (P240L) substitution in the third highly conserved Ig-like domain. Three of the older patients had died between 5 and 8 months of age; the proband had adducted thumbs, short stature, severe mental retardation, and spasticity. Basel-Vanagaite et al. (2006) identified the P240L mutation in 2 male sibs with X-linked partial agenesis of the corpus callosum (304100) and mild mental retardation. Neither sib had hydrocephalus, adducted thumbs, or absent speech. The older sib also had Hirschsprung disease and congenital dislocation of the radial heads bilaterally, resulting in limited extension and supination of the elbows. Basel-Vanagaite et al. (2006) emphasized the well-known inter- and intrafamilial phenotypic variability in patients with L1CAM mutations. .0018 HYDROCEPHALUS, X-LINKED In a Swedish boy with X-linked hydrocephalus, cognitive delay, and adducted thumbs (307000), Rehnberg et al. (2011) identified a hemizygous G-to-C transversion in intron 26 of the L1CAM gene (c.3458-1G-C), predicted to result in the deletion of exon 26 and a frameshift in exons 27 and 28. This would likely cause a loss of function of most of the cytoplasmic domain of the protein, which is a multifunctional region required for the initial protrusion of axons from the neuronal soma. Rehnberg et al. (2011) suggested that the mutation would disrupt cytoskeletal interactions. Family history was notable for 2 deceased maternal uncles with hydrocephalus, cognitive impairment, spastic paraplegia, and adducted thumbs. The mutation was also found in 3 female relatives of the proband, including his unaffected mother, maternal grandmother, and sister. Rehnberg et al. (2011) noted that the mother developed metastatic clear cell renal cell carcinoma (RCC; 144700) at age 46, and they speculated that the L1CAM mutation may have stimulated tumor migration and growth in this patient. .. _L1CAM Phenotype: NCBI Phenotypes *************** * Gene Reviews * X-linked hydrocephalus syndrome * CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED * OMIM * GTR * Spastic paraplegia 1 .. _L1CAM GO Term: Gene Ontology ************* * plasma membrane * protein self-association * leukocyte migration * identical protein binding * presynaptic membrane * positive regulation of calcium-mediated signaling * terminal button * cell surface receptor signaling pathway * PDZ domain binding * axon guidance * external side of plasma membrane * sialic acid binding * cell-cell adhesion mediated by integrin * cell adhesion * homotypic cell-cell adhesion * leukocyte cell-cell adhesion * positive regulation of cell-cell adhesion * heterophilic cell-cell adhesion * integrin binding * cell death * membrane fraction * chemotaxis * integral to membrane * blood coagulation * nervous system development * homophilic cell adhesion .. _L1CAM Pathway: KEGG Pathways ************* * `Cell adhesion molecules (CAMs) `_ * `Axon guidance `_ .. _L1CAM GeneRIF: GeneRIFs ******** * A novel missense mutation in the L1CAM gene is identified in a boy with X-linked hydrocephalus who had multiple small gyri, hypoplasia of the white matter, agenesis of the corpus callosum, and lack of cleavage of the thalami. [`PMID 12435569`_] * overview of the pathological conditions caused by L1CAM malfunction [review] [`PMID 20237819`_] * a significant association of L1 expression and presence of disseminated tumor cells colorectal tumors [`PMID 17873897`_] * ALCAM coordinates tissue growth and cell migration in a process involvnig L1CAM [`PMID 18483249`_] * This study provides a novel translational mechanism to account for the association between L1 expression and motile processes involved in metastasis and development. [`PMID 15128735`_] * L1CAM might contribute to melanoma progression by promoting cell adhesion and migration. [`PMID 12490317`_] * This review focuses on the L1CAM extracellular region and how recent work has clarified important aspects of its structure and function; new insights are provided for L1CAM binding to extracellular molecules, and how L1CAM initially folds. [`PMID 12957823`_] * A soluble form of human L1 can be detected in the urine of patients with acute tubular necrosis and this may be a marker of distal nephron injury. [`PMID 18059459`_] * Data show that L1 is highly expressed in gastrointestinal stromal tumors but not in leiomyoma and desmoid-type fibromatosis being important differential diagnoses. [`PMID 16400320`_] * strong L1 overexpression in tumors of neuroectodermal and neural crest origin [`PMID 21195422`_] * Neural Cell Adhesion Molecule L1 expression is associated with esophageal adenocarcinoma. [`PMID 19414364`_] * L1-CAM interacts with TAG-1. [`PMID 9837910`_] * Missense mutations of hL1CAM in the fibronectinIII domain cause the resultant pathogenesis because of a loss of expression on the cell surface resulting from misrouting to the degradative pathway. [`PMID 21688291`_] * Reconstituted Complex [`PMID 12139915`_] * Results suggest that L1-mediated metastasis of CRC cells does not require changes in EMT and CSC markers. [`PMID 21123622`_] * The sixth Ig-like domain of L1 (L1Ig6) demonstrates angiogenic potential involving ligation and activation of alpha(v)beta3. [`PMID 15609076`_] * domains Ig1 to Ig4 are necessary and sufficient for L1 homophilic binding in trans, and that the rest of the molecule does not contribute to the affinity [`PMID 18701456`_] * The elevated expression of L1CAM already found in precursor lesions of pancreatic ductal adenocarcinoma points to a role of L1CAM quite early in tumorigenesis of this disease [`PMID 20811670`_] * overexpression of cell adhesion molecule L1 is asociated with gallbladder carcinoma progression. [`PMID 21318226`_] * L1-CAM has a role in metastasis in colon cancer cells [review] [`PMID 18847309`_] * L1CAM promoted cell proliferation by mainly activating ERK signaling. [`PMID 22088438`_] * Expression of L1-CAM augments cell motility, invasiveness and tumor growth, causes sustained Erk kinase activation and augments transcriptional activity of proinvasive genes. [`PMID 17952127`_] * Mechanisms of tumoral L1CAM induction and how pancreatic myofibroblasts contribute to malignant transformation of pancreatic duct cells early in pancreatic ductal adenocarcinoma tumorigenesis. [`PMID 19435915`_] * L1-type CAMs are able to promote the adhesion-dependent activation of EGF receptor signaling in vitro and in vivo [`PMID 14718570`_] * Affinity Capture-Western [`PMID 12942088`_] * Affinity Capture-Western [`PMID 12942088`_] * L1 expression conferred increased cell motility, growth in low serum, transformation and tumorigenesis. [`PMID 15716380`_] * Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [`PMID 16650578`_] * a functional role of L1CAM expression on tumor endothelium that could favor metastasis and angiogenesis during tumor progression. [`PMID 18931829`_] * These results implicate L1 in the regulation of dendritic cells (DC) trafficking and shed light on novel mechanisms underlying transendothelial migration of DCs. [`PMID 19273627`_] * a model was proposed in which L1-CD folding reflects L1-CD phosphorylation state, with specific reference to the availability of T1172 [`PMID 19720049`_] * Affinity Capture-MS; Affinity Capture-Western [`PMID 22222883`_] * Affinity Capture-Western [`PMID 22222883`_] * ADAM10 overexpression in colon cancer cells displaying endogenous L1-CAM enhanced L1-CAM cleavage and induced liver metastasis, and ADAM10 also enhanced metastasis in colon cancer cells stably transfected with L1-CAM. [`PMID 17699774`_] * High L1 expression is associated with colorectal cancer progression [`PMID 17211730`_] * L1 cell adhesion molecule expression could be used as a novel prognostic factor for patient survival and might be a potential therapeutic target in gallbladder carcinomas. [`PMID 21496863`_] * Results establish for the first time that regulated proteolytic processing by ADAM10 and PS/gamma-secretase is essential for the nuclear signalling of L1 in human carcinoma cell lines. [`PMID 19260824`_] * Nuclear factor-kappaB signaling and ezrin are essential for L1CAM mediated metastasis of colon cancer cells. [`PMID 20501702`_] * L1 cell adhesion molecule X-linked hydrocephalus in mice is affected by a modifier locus on chromosome 5 [`PMID 19565280`_] * RanBPM is an adaptor protein that links L1 to the extracellular signal-regulated kinase/MAPK pathway. [`PMID 16000162`_] * L1CAM interacts with RanBPM. [`PMID 16000162`_] * Pathogenic L1-CAM mutations reduce the activation of EGFR. [`PMID 19617634`_] * DNA hypomethylation at the L1CAM CpG islands might induce L1CAM aberrant expression and contribute to the acquisition of aggressive tumor behavior in colorectal cancer [`PMID 19639167`_] * Reconstituted Complex [`PMID 12070130`_] * alcohol binding within a pocket bordered by Glu-33 and Tyr-418 inhibits L1 adhesion by disrupting the Ig1-Ig4 interaction. [`PMID 21367865`_] * L1CAM is a novel prognostic marker for non small cell lung cancer cells that is upregulated by epithelial mesenchymal transition induction and appears to be instrumental for enhanced cell invasion [`PMID 21985405`_] * L1 cell adhesion molecule may have a role in progression of extrahepatic cholangiocarcinoma [`PMID 19920102`_] * These results indicate an important role of released L1 in tumor angiogenesis. [`PMID 19401151`_] * The AA genotype of a L1C G842A polymorphism is associated with ovarian cancer. [`PMID 19661372`_] * Our report also helps define the critical region with exclusion of L1CAM in the X-linked mental retardation phenotype. [`PMID 19018795`_] * L1CAM is essential for self-renewal and pluripotency. [`PMID 21957033`_] * L1CAM is required for maintaining the growth and survival of CD133(+) glioma cells both in vitro and in vivo, and L1CAM may represent a cancer stem cell-specific therapeutic target for improving the treatment of malignant gliomas and other brain tumors [`PMID 18676824`_] * L1CAM downstream signaling that is fundamental for the development of anti-L1CAM antibody-mediated therapeutics in human tumor cells. [`PMID 21195665`_] * Herein, we are describing a case of a patient with concurrent X-linked hydrocephalus and Hirschsprung's disease. Genetics testing showed hemizygous for R558X hemizygous mutation in the L1CAM gene. [`PMID 19641926`_] * Metastasis formation upon up-regulation of full length-L1CAM correlated with increased invasive potential and elevated Matrix metalloproteinase (MMP)-2 and -9 expression and activity. [`PMID 21541352`_] * The cleavage of the ectodomains of L1 and CD44 is initiated in an endosomal compartment that is subsequently released in the form of exosomes. [`PMID 16229685`_] * May be a modifier of a gene associated with Hirschsprung disease. [`PMID 11857550`_] * We propose that L1CAM could promote endometriosis development by increasing enervation and aggravation. L1CAM expression is higher in atypical endometriosis compared with normal endometriosis. [`PMID 18332088`_] * Reconstituted Complex [`PMID 10871287`_] * Reconstituted Complex [`PMID 10871287`_] * Our findings support that L1CAM mutations are associated with widely heterogeneous L1 syndrome phenotypes [`PMID 20447653`_] * Novel L1CAM splice site mutation in a young male with L1 syndrome. [`PMID 21271669`_] * A LiCAM mutation was presented in a boy with hydrocephalus and duplex kidneys. [`PMID 17294222`_] * L1 (CAM) expression represents a novel diagnostic marker in serous ovarian neoplasms that show characteristics of tumor progressio; immunoreactivity correlated significantly with stage and grade [`PMID 18386459`_] * Tumor regulation of L1CAM expression is associated with morphologic features at the invasive front in colorectal cancer. [`PMID 21685041`_] * L1CAM interacts with AP-2 mu2 chain. This interaction was modelled on a demonstrated interaction between human L1CAM and AP-2 mu2 chain from an unspecified species. [`PMID 15647482`_] * L1CAM interacts with Ankyrin. This interaction was modelled on a demonstrated interaction between human L1CAM and drosophila ankyrin. [`PMID 15647482`_] * genetic and clinical aspects of X-linked hydrocephalus (L1 disease) [`PMID 11438988`_] * X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. [`PMID 12725590`_] * L1 expression indicates more mature stages of neuroblastoma and is associated with less aggressive tumor cell behavior.. [`PMID 18972120`_] * Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? [`PMID 11897831`_] * Alpha v beta 5, alpha v beta 5 and their ligands Del-1 and L1 play an important role in the process of tumor cells moving from the original place. [`PMID 18090124`_] * Levels of CAM-L1 were increased in the prefrontal cortex of the major depression. [`PMID 15820228`_] * Observational study of gene-disease association. (HuGE Navigator) [`PMID 19913121`_] * Results suggest that the L1CAM gene has two functionally active promoter sites that are used in a cell-type specific manner. [`PMID 20799950`_] * L1 syndrome mutations affect neuronal L1 function at different levels, firstly by impairing endoplasmic reticulum export and secondly by interfering with polarized axonal targeting of L1. [`PMID 20621658`_] * The L1 plays an important role in the tumor progression of Intrahepatic cholangiocarcinoma(ICC) by enhancing cell proliferation, migration, invasion, and survival. L1 may represent a novel therapeutic target for ICC . [`PMID 20501614`_] * Co-localization [`PMID 11222639`_] * L1CAM loss-of-function mutations cause a severe form of L1 syndrome. [`PMID 17328266`_] * Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 20628086`_] * Increased L1-CAM expression is associated with renal cell carcinoma. [`PMID 21097529`_] * These results suggest that high soluble L1 levels predict poor prognosis and may thus be a promising tumor marker that can contribute to individualise therapy. [`PMID 21600041`_] * Data show that L1-cell adhesion molecule interactions with ankyrinB (but not with ankyrinG) are involved in the initial formation of neurites. [`PMID 14657231`_] * Data contribute to the design of high-affinity antibody for therapeutic purposes as well as to the understanding of neural cell remodeling and cancer progression mechanism mediated by L1CAM. [`PMID 21094640`_] * L1's ubiquitination might be an additional mechanism to control its re-appearance at the cell surface [`PMID 20940017`_] * Two novel mutations in SPG11 gene identified that confirmed link between SPG11 and autosomal recessive hereditary spastic paraplegia with thin corpus callosum. [`PMID 22246010`_] * Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. [`PMID 19165527`_] * Two-hybrid [`PMID 16169070`_] * L1CAM has a function in synapse formation by organizing microtubules in the synaptic terminal. [`PMID 16401420`_] * Observational study of genotype prevalence. (HuGE Navigator) [`PMID 11393533`_] * L1 cell adhesion molecule plays a critical role in melanoma invasion and progression and offers therapeutic potential in combination with conventional anticancer agents. [`PMID 16506207`_] * L1CAM may be a modifying factor in the development of Hirschsprung's disease [`PMID 15148591`_] * High L1-CAM expression is associated with breast cancer. [`PMID 19787228`_] * L1 might be involved functionally in growth and spread of adenoid cystic carcinoma and might thus present a molecular target for future therapeutic strategies. [`PMID 21884209`_] * Reconstituted Complex [`PMID 7513709`_] * H6c7 cells exhibiting elevated L1CAM expression and epithelial-mesenchymal transition-associated alterations show a decreased apoptosis sensitivity toward death ligands [`PMID 22095073`_] * Importance of the RGD site in L1 for human tumors; nuclear signaling of L1 is dependent on integrins. [`PMID 18555990`_] .. _PMID 12435569: http://www.ncbi.nlm.nih.gov/pubmed/12435569 .. _PMID 20237819: http://www.ncbi.nlm.nih.gov/pubmed/20237819 .. _PMID 17873897: http://www.ncbi.nlm.nih.gov/pubmed/17873897 .. _PMID 18483249: http://www.ncbi.nlm.nih.gov/pubmed/18483249 .. _PMID 15128735: http://www.ncbi.nlm.nih.gov/pubmed/15128735 .. _PMID 12490317: http://www.ncbi.nlm.nih.gov/pubmed/12490317 .. _PMID 12957823: http://www.ncbi.nlm.nih.gov/pubmed/12957823 .. _PMID 18059459: http://www.ncbi.nlm.nih.gov/pubmed/18059459 .. _PMID 16400320: http://www.ncbi.nlm.nih.gov/pubmed/16400320 .. _PMID 21195422: http://www.ncbi.nlm.nih.gov/pubmed/21195422 .. _PMID 19414364: http://www.ncbi.nlm.nih.gov/pubmed/19414364 .. _PMID 9837910: http://www.ncbi.nlm.nih.gov/pubmed/9837910 .. _PMID 21688291: http://www.ncbi.nlm.nih.gov/pubmed/21688291 .. _PMID 12139915: http://www.ncbi.nlm.nih.gov/pubmed/12139915 .. _PMID 21123622: http://www.ncbi.nlm.nih.gov/pubmed/21123622 .. _PMID 15609076: http://www.ncbi.nlm.nih.gov/pubmed/15609076 .. _PMID 18701456: http://www.ncbi.nlm.nih.gov/pubmed/18701456 .. _PMID 20811670: http://www.ncbi.nlm.nih.gov/pubmed/20811670 .. _PMID 21318226: http://www.ncbi.nlm.nih.gov/pubmed/21318226 .. _PMID 18847309: http://www.ncbi.nlm.nih.gov/pubmed/18847309 .. _PMID 22088438: http://www.ncbi.nlm.nih.gov/pubmed/22088438 .. _PMID 17952127: http://www.ncbi.nlm.nih.gov/pubmed/17952127 .. _PMID 19435915: http://www.ncbi.nlm.nih.gov/pubmed/19435915 .. _PMID 14718570: http://www.ncbi.nlm.nih.gov/pubmed/14718570 .. _PMID 12942088: http://www.ncbi.nlm.nih.gov/pubmed/12942088 .. _PMID 15716380: http://www.ncbi.nlm.nih.gov/pubmed/15716380 .. _PMID 16650578: http://www.ncbi.nlm.nih.gov/pubmed/16650578 .. _PMID 18931829: http://www.ncbi.nlm.nih.gov/pubmed/18931829 .. _PMID 19273627: http://www.ncbi.nlm.nih.gov/pubmed/19273627 .. _PMID 19720049: http://www.ncbi.nlm.nih.gov/pubmed/19720049 .. _PMID 22222883: http://www.ncbi.nlm.nih.gov/pubmed/22222883 .. _PMID 17699774: http://www.ncbi.nlm.nih.gov/pubmed/17699774 .. _PMID 17211730: http://www.ncbi.nlm.nih.gov/pubmed/17211730 .. _PMID 21496863: http://www.ncbi.nlm.nih.gov/pubmed/21496863 .. _PMID 19260824: http://www.ncbi.nlm.nih.gov/pubmed/19260824 .. _PMID 20501702: http://www.ncbi.nlm.nih.gov/pubmed/20501702 .. _PMID 19565280: http://www.ncbi.nlm.nih.gov/pubmed/19565280 .. _PMID 16000162: http://www.ncbi.nlm.nih.gov/pubmed/16000162 .. _PMID 19617634: http://www.ncbi.nlm.nih.gov/pubmed/19617634 .. _PMID 19639167: http://www.ncbi.nlm.nih.gov/pubmed/19639167 .. _PMID 12070130: http://www.ncbi.nlm.nih.gov/pubmed/12070130 .. _PMID 21367865: http://www.ncbi.nlm.nih.gov/pubmed/21367865 .. _PMID 21985405: http://www.ncbi.nlm.nih.gov/pubmed/21985405 .. _PMID 19920102: http://www.ncbi.nlm.nih.gov/pubmed/19920102 .. _PMID 19401151: http://www.ncbi.nlm.nih.gov/pubmed/19401151 .. _PMID 19661372: http://www.ncbi.nlm.nih.gov/pubmed/19661372 .. _PMID 19018795: http://www.ncbi.nlm.nih.gov/pubmed/19018795 .. _PMID 21957033: http://www.ncbi.nlm.nih.gov/pubmed/21957033 .. _PMID 18676824: http://www.ncbi.nlm.nih.gov/pubmed/18676824 .. _PMID 21195665: http://www.ncbi.nlm.nih.gov/pubmed/21195665 .. _PMID 19641926: http://www.ncbi.nlm.nih.gov/pubmed/19641926 .. _PMID 21541352: http://www.ncbi.nlm.nih.gov/pubmed/21541352 .. _PMID 16229685: http://www.ncbi.nlm.nih.gov/pubmed/16229685 .. _PMID 11857550: http://www.ncbi.nlm.nih.gov/pubmed/11857550 .. _PMID 18332088: http://www.ncbi.nlm.nih.gov/pubmed/18332088 .. _PMID 10871287: http://www.ncbi.nlm.nih.gov/pubmed/10871287 .. _PMID 20447653: http://www.ncbi.nlm.nih.gov/pubmed/20447653 .. _PMID 21271669: http://www.ncbi.nlm.nih.gov/pubmed/21271669 .. _PMID 17294222: http://www.ncbi.nlm.nih.gov/pubmed/17294222 .. _PMID 18386459: http://www.ncbi.nlm.nih.gov/pubmed/18386459 .. _PMID 21685041: http://www.ncbi.nlm.nih.gov/pubmed/21685041 .. _PMID 15647482: http://www.ncbi.nlm.nih.gov/pubmed/15647482 .. _PMID 11438988: http://www.ncbi.nlm.nih.gov/pubmed/11438988 .. _PMID 12725590: http://www.ncbi.nlm.nih.gov/pubmed/12725590 .. _PMID 18972120: http://www.ncbi.nlm.nih.gov/pubmed/18972120 .. _PMID 11897831: http://www.ncbi.nlm.nih.gov/pubmed/11897831 .. _PMID 18090124: http://www.ncbi.nlm.nih.gov/pubmed/18090124 .. _PMID 15820228: http://www.ncbi.nlm.nih.gov/pubmed/15820228 .. _PMID 19913121: http://www.ncbi.nlm.nih.gov/pubmed/19913121 .. _PMID 20799950: http://www.ncbi.nlm.nih.gov/pubmed/20799950 .. _PMID 20621658: http://www.ncbi.nlm.nih.gov/pubmed/20621658 .. _PMID 20501614: http://www.ncbi.nlm.nih.gov/pubmed/20501614 .. _PMID 11222639: http://www.ncbi.nlm.nih.gov/pubmed/11222639 .. _PMID 17328266: http://www.ncbi.nlm.nih.gov/pubmed/17328266 .. _PMID 20628086: http://www.ncbi.nlm.nih.gov/pubmed/20628086 .. _PMID 21097529: http://www.ncbi.nlm.nih.gov/pubmed/21097529 .. _PMID 21600041: http://www.ncbi.nlm.nih.gov/pubmed/21600041 .. _PMID 14657231: http://www.ncbi.nlm.nih.gov/pubmed/14657231 .. _PMID 21094640: http://www.ncbi.nlm.nih.gov/pubmed/21094640 .. _PMID 20940017: http://www.ncbi.nlm.nih.gov/pubmed/20940017 .. _PMID 22246010: http://www.ncbi.nlm.nih.gov/pubmed/22246010 .. _PMID 19165527: http://www.ncbi.nlm.nih.gov/pubmed/19165527 .. _PMID 16169070: http://www.ncbi.nlm.nih.gov/pubmed/16169070 .. _PMID 16401420: http://www.ncbi.nlm.nih.gov/pubmed/16401420 .. _PMID 11393533: http://www.ncbi.nlm.nih.gov/pubmed/11393533 .. _PMID 16506207: http://www.ncbi.nlm.nih.gov/pubmed/16506207 .. _PMID 15148591: http://www.ncbi.nlm.nih.gov/pubmed/15148591 .. _PMID 19787228: http://www.ncbi.nlm.nih.gov/pubmed/19787228 .. _PMID 21884209: http://www.ncbi.nlm.nih.gov/pubmed/21884209 .. _PMID 7513709: http://www.ncbi.nlm.nih.gov/pubmed/7513709 .. _PMID 22095073: http://www.ncbi.nlm.nih.gov/pubmed/22095073 .. _PMID 18555990: http://www.ncbi.nlm.nih.gov/pubmed/18555990 .. _L1CAM Pubmed: PubMed Articles *************** *Recent articles:* * Yoon H et al. "L1 cell adhesion molecule and epidermal growth factor receptor activation confer cisplatin resistance in intrahepatic cholangiocarcinoma cells." Cancer Lett. 2012 Mar;316(1):70-6. `PMID 22088438`_ * Marx M et al. "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. `PMID 22222883`_ * Wakil SM et al. "Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis." Neurosciences (Riyadh). 2012 Jan;17(1):48-52. `PMID 22246010`_ * Schäfer H et al. "Myofibroblast-induced tumorigenicity of pancreatic ductal epithelial cells is L1CAM dependent." Carcinogenesis. 2012 Jan;33(1):84-93. `PMID 22095073`_ * Lee KA et al. "Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels." J Biol Chem. 2011 Dec 2;286(48):41530-8. `PMID 21987572`_ * Son YS et al. "Brief report: L1 cell adhesion molecule, a novel surface molecule of human embryonic stem cells, is essential for self-renewal and pluripotency." Stem Cells. 2011 Dec;29(12):2094-9. `PMID 21957033`_ * Emanuele MJ et al. "Global identification of modular cullin-RING ligase substrates." Cell. 2011 Oct 14;147(2):459-74. `PMID 21963094`_ * Tischler V et al. "L1CAM protein expression is associated with poor prognosis in non-small cell lung cancer." Mol Cancer. 2011 Oct 10;10:127. `PMID 21985405`_ * Itoh K et al. "Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation." J Neurosci Res. 2011 Oct;89(10):1637-45. `PMID 21688291`_ * Dahl A et al. "Glycoconjugate expression in adenoid cystic carcinoma of the salivary glands: up-regulation of L1 predicts fatal prognosis." Histopathology. 2011 Aug;59(2):299-307. `PMID 21884209`_ .. _PMID 21884209: http://www.ncbi.nlm.nih.gov/pubmed/21884209 .. _PMID 21985405: http://www.ncbi.nlm.nih.gov/pubmed/21985405 .. _PMID 22222883: http://www.ncbi.nlm.nih.gov/pubmed/22222883 .. _PMID 22088438: http://www.ncbi.nlm.nih.gov/pubmed/22088438 .. _PMID 21957033: http://www.ncbi.nlm.nih.gov/pubmed/21957033 .. _PMID 22246010: http://www.ncbi.nlm.nih.gov/pubmed/22246010 .. _PMID 21963094: http://www.ncbi.nlm.nih.gov/pubmed/21963094 .. _PMID 21987572: http://www.ncbi.nlm.nih.gov/pubmed/21987572 .. _PMID 22095073: http://www.ncbi.nlm.nih.gov/pubmed/22095073 .. _PMID 21688291: http://www.ncbi.nlm.nih.gov/pubmed/21688291 *Top Pubmed articles linked to gene L1CAM matching any search term:* * Lange A et al. "Neuronal differentiation by indomethacin and IBMX inhibits proliferation of small cell lung cancer cells in vitro." Lung Cancer. 2011 Nov;74(2):178-87. `PMID 21511354`_ * Yang HJ et al. "A novel role for neural cell adhesion molecule in modulating insulin signaling and adipocyte differentiation of mouse mesenchymal stem cells." J Cell Sci. 2011 Aug 1;124(Pt 15):2552-60. `PMID 21730021`_ * Yahiro K et al. "Identification of subtilase cytotoxin (SubAB) receptors whose signaling, in association with SubAB-induced BiP cleavage, is responsible for apoptosis in HeLa cells." Infect Immun. 2011 Feb;79(2):617-27. `PMID 21098100`_ * Karaca M et al. "In vivo functional heterogeneity among β-cells." Islets. 2010 Mar-Apr;2(2):124-6. `PMID 21099305`_ * Bailey SD et al. "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study." Diabetes Care. 2010 Oct;33(10):2250-3. `PMID 20628086`_ * Kumar S et al. "Interactive effect of excitotoxic injury and dietary restriction on neurogenesis and neurotrophic factors in adult male rat brain." Neurosci Res. 2009 Dec;65(4):367-74. `PMID 19732799`_ * Burns SF et al. "Waist circumference, atherogenic lipoproteins, and vascular smooth muscle biomarkers in children." J Clin Endocrinol Metab. 2009 Dec;94(12):4914-22. `PMID 19846736`_ * Karaca M et al. "Exploring functional beta-cell heterogeneity in vivo using PSA-NCAM as a specific marker." PLoS One. 2009;4(5):e5555. `PMID 19440374`_ * Banerjee M et al. "A simple two-step protocol for the purification of human pancreatic beta cells." Diabetologia. 2009 Apr;52(4):621-5. `PMID 19169662`_ * Knops NB et al. "Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2." Am J Med Genet A. 2008 Jul 15;146A(14):1853-8. `PMID 18553546`_ * Tegay DH et al. "Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus." Am J Med Genet A. 2007 Mar 15;143(6):594-8. `PMID 17318848`_ * Saunders MA et al. "The extent of linkage disequilibrium caused by selection on G6PD in humans." Genetics. 2005 Nov;171(3):1219-29. `PMID 16020776`_ * Saunders MA et al. "Nucleotide variability at G6pd and the signature of malarial selection in humans." Genetics. 2002 Dec;162(4):1849-61. `PMID 12524354`_ * Djabali M et al. "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. `PMID 2387585`_ .. _PMID 17318848: http://www.ncbi.nlm.nih.gov/pubmed/17318848 .. _PMID 2387585: http://www.ncbi.nlm.nih.gov/pubmed/2387585 .. _PMID 21511354: http://www.ncbi.nlm.nih.gov/pubmed/21511354 .. _PMID 12524354: http://www.ncbi.nlm.nih.gov/pubmed/12524354 .. _PMID 18553546: http://www.ncbi.nlm.nih.gov/pubmed/18553546 .. _PMID 19440374: http://www.ncbi.nlm.nih.gov/pubmed/19440374 .. _PMID 19169662: http://www.ncbi.nlm.nih.gov/pubmed/19169662 .. _PMID 20628086: http://www.ncbi.nlm.nih.gov/pubmed/20628086 .. _PMID 21730021: http://www.ncbi.nlm.nih.gov/pubmed/21730021 .. _PMID 19732799: http://www.ncbi.nlm.nih.gov/pubmed/19732799 .. _PMID 19846736: http://www.ncbi.nlm.nih.gov/pubmed/19846736 .. _PMID 21098100: http://www.ncbi.nlm.nih.gov/pubmed/21098100 .. _PMID 16020776: http://www.ncbi.nlm.nih.gov/pubmed/16020776 .. _PMID 21099305: http://www.ncbi.nlm.nih.gov/pubmed/21099305