L1-Cell Adhesion Molecule (L1CAM)

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

SPN	V852
HGNC	6470
MGI	96721
PubMed	21297581
RGD	619777
UniProt	P32004
Wiki	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 . 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.

Reference

"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 1090:238-240(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular structure and functional testing of human L1CAM: an interspecies comparison."
Genomics 11:416-423(1991) [PubMed] [Europe PMC] [Abstract]

"Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA."
J. Mol. Neurosci. 3:127-135(1992) [PubMed] [Europe PMC] [Abstract]

"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]

"The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu."
Gene 208:7-15(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"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]

"A human brain glycoprotein related to the mouse cell adhesion molecule L1."
J. Biol. Chem. 263:11943-11947(1988) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"Casein kinase II phosphorylates the neural cell adhesion molecule L1."
J. Neurochem. 66:779-786(1996) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"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]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"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]

"A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)."
Nat. Genet. 4:331-331(1993) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM."
Nat. Genet. 7:408-413(1994) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

Erratum
Eur. J. Hum. Genet. 4:126-126(1996)

"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]

"A new mutation of the L1CAM gene in an X-linked hydrocephalus family."
Childs Nerv. Syst. 12:742-747(1996) [PubMed] [Europe PMC] [Abstract]

"Five novel mutations in the L1CAM gene in families with X linked hydrocephalus."
J. Med. Genet. 33:103-106(1996) [PubMed] [Europe PMC] [Abstract]

"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]

"L1-associated diseases: clinical geneticists divide, molecular geneticists unite."
Hum. Mol. Genet. 6:1625-1632(1997) [PubMed] [Europe PMC] [Abstract]

"Nine novel L1 CAM mutations in families with X-linked hydrocephalus."
Hum. Mutat. 9:512-518(1997) [PubMed] [Europe PMC] [Abstract]

"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]

"Evidence for somatic and germline mosaicism in CRASH syndrome."
Hum. Mutat. Suppl. 1:S284-S287(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis."
Hum. Mutat. 12:259-266(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?"
Am. J. Med. Genet. 108:51-56(2002) [PubMed] [Europe PMC] [Abstract]

"X-linked hydrocephalus: a novel missense mutation in the L1CAM gene."
Pediatr. Neurol. 27:293-296(2002) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotypic spectrum of L1CAM-associated disease."
Clin. Genet. 69:414-419(2006) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the L1CAM gene in a boy with L1 disease."
Neurol. Sci. 27:114-117(2006) [PubMed] [Europe PMC] [Abstract]

"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]