L1-Cell Adhesion Molecule (L1CAM)

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CD171; L1-CAM; CAML1; HSAS; HSAS1; MASA; MIC5; N-CAML1; S10; SPG1; Antigen Identified By Monoclonal Antibody R1

L1-Cell Adhesion Molecule (L1CAM)

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 . 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA959Hu01 Recombinant L1-Cell Adhesion Molecule (L1CAM) Positive Control; Immunogen; SDS-PAGE; WB.
RPA959Hu02 Recombinant L1-Cell Adhesion Molecule (L1CAM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA959Hu01 Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
MAA959Hu22 Monoclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
PAA959Hu02 Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
LAA959Hu71 Biotin-Linked Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC.
MAA959Hu21 Monoclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
Assay Kits SEA959Hu ELISA Kit for L1-Cell Adhesion Molecule (L1CAM) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA959Mu01 Recombinant L1-Cell Adhesion Molecule (L1CAM) Positive Control; Immunogen; SDS-PAGE; WB.
RPA959Mu02 Recombinant L1-Cell Adhesion Molecule (L1CAM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA959Mu01 Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
PAA959Mu02 Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
Assay Kits SEA959Mu ELISA Kit for L1-Cell Adhesion Molecule (L1CAM) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA959Ra01 Recombinant L1-Cell Adhesion Molecule (L1CAM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA959Ra01 Polyclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
MAA959Ra21 Monoclonal Antibody to L1-Cell Adhesion Molecule (L1CAM) WB; IHC; ICC; IP.
Assay Kits SEA959Ra ELISA Kit for L1-Cell Adhesion Molecule (L1CAM) Enzyme-linked immunosorbent assay for Antigen Detection.
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  2. "Molecular structure and functional testing of human L1CAM: an interspecies comparison."Genomics 11:416-423(1991) [PubMed] [Europe PMC] [Abstract]
  3. "Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA."J. Mol. Neurosci. 3:127-135(1992) [PubMed] [Europe PMC] [Abstract]
  4. "Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse."Genomics 44:8-14(1997) [PubMed] [Europe PMC] [Abstract]
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  6. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
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  9. "The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man."Genomics 7:587-593(1990) [PubMed] [Europe PMC] [Abstract]
  10. "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. 19:5395-5401(1991) [PubMed] [Europe PMC] [Abstract]
  11. "Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region."J. Neurochem. 56:797-804(1991) [PubMed] [Europe PMC] [Abstract]
  12. "Casein kinase II phosphorylates the neural cell adhesion molecule L1."J. Neurochem. 66:779-786(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  15. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  19. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  20. "A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)."Nat. Genet. 4:331-331(1993) [PubMed] [Europe PMC] [Abstract]
  21. "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. 3:2255-2256(1994) [PubMed] [Europe PMC] [Abstract]
  22. "X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene."Nat. Genet. 7:402-407(1994) [PubMed] [Europe PMC] [Abstract]
  23. "MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM."Nat. Genet. 7:408-413(1994) [PubMed] [Europe PMC] [Abstract]
  24. "New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome."Am. J. Hum. Genet. 56:1304-1314(1995) [PubMed] [Europe PMC] [Abstract]
  25. "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. 3:273-284(1995) [PubMed] [Europe PMC] [Abstract]
  26. ErratumEur. J. Hum. Genet. 4:126-126(1996)
  27. "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS."J. Med. Genet. 32:549-552(1995) [PubMed] [Europe PMC] [Abstract]
  28. "A new mutation of the L1CAM gene in an X-linked hydrocephalus family."Childs Nerv. Syst. 12:742-747(1996) [PubMed] [Europe PMC] [Abstract]
  29. "Five novel mutations in the L1CAM gene in families with X linked hydrocephalus."J. Med. Genet. 33:103-106(1996) [PubMed] [Europe PMC] [Abstract]
  30. "Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait."Am. J. Med. Genet. 71:336-340(1997) [PubMed] [Europe PMC] [Abstract]
  31. "L1-associated diseases: clinical geneticists divide, molecular geneticists unite."Hum. Mol. Genet. 6:1625-1632(1997) [PubMed] [Europe PMC] [Abstract]
  32. "Nine novel L1 CAM mutations in families with X-linked hydrocephalus."Hum. Mutat. 9:512-518(1997) [PubMed] [Europe PMC] [Abstract]
  33. "Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene."Hum. Mutat. 11:222-230(1998) [PubMed] [Europe PMC] [Abstract]
  34. "Evidence for somatic and germline mosaicism in CRASH syndrome."Hum. Mutat. Suppl. 1:S284-S287(1998) [PubMed] [Europe PMC] [Abstract]
  35. "Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis."Hum. Mutat. 12:259-266(1998) [PubMed] [Europe PMC] [Abstract]
  36. "The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus."J. Med. Genet. 35:901-904(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease."Am. J. Med. Genet. 92:40-46(2000) [PubMed] [Europe PMC] [Abstract]
  38. "Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus."J. Child Neurol. 15:239-243(2000) [PubMed] [Europe PMC] [Abstract]
  39. "Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?"Am. J. Med. Genet. 108:51-56(2002) [PubMed] [Europe PMC] [Abstract]
  40. "X-linked hydrocephalus: a novel missense mutation in the L1CAM gene."Pediatr. Neurol. 27:293-296(2002) [PubMed] [Europe PMC] [Abstract]
  41. "Expanding the phenotypic spectrum of L1CAM-associated disease."Clin. Genet. 69:414-419(2006) [PubMed] [Europe PMC] [Abstract]
  42. "A novel missense mutation in the L1CAM gene in a boy with L1 disease."Neurol. Sci. 27:114-117(2006) [PubMed] [Europe PMC] [Abstract]
  43. "Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene."Am. J. Med. Genet. A 158:816-820(2012) [PubMed] [Europe PMC] [Abstract]