L1CAM - L1 cell adhesion molecule
Entrez Gene Name: L1 cell adhesion molecule
Entrez GeneID: Human(3897)
, Mouse(16728), Rat(50687)
, Mouse(16728), Rat(50687) Synonyms: CAML1, CD171, HSAS, HSAS1, Hyd, L1, L1 ISOFORM, L1-NCAM, L1CAM, L1cam mapped, MASA, MIC5, N-CAML1, NEUROGLIAN, S10, SPG1
Gene Summary
- Human (3897): 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]
- Rat (50687): member of the Ig superfamily of cell adhesion molecules; involved in neuronal cell development; neural cell adhesion molecule expressed in brain; isoform L1cs is a likely alternative splice variant expressed in the peripheral nervous system [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
axon guidance, cell adhesion, cell death, cell differentiation, cell surface receptor linked signal transduction, cell-cell adhesion mediated by integrin, heterophilic cell adhesion, homophilic cell adhesion, homotypic cell-cell adhesion, leukocyte adhesion, multicellular organismal development, nervous system development, neuron projection development, positive regulation of calcium-mediated signaling, positive regulation of cell-cell adhesion
Cellular Components
cell surface, external side of plasma membrane, integral to membrane, membrane, membrane fraction, plasma membrane, presynaptic membrane, terminal button
Literature References
- 12456642Castellani V, De Angelis E, Kenwrick S, Rougon G. Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.EMBO J 2002 Dec 1;21(23):6348-6357
- 9530493Kamiguchi H, Hlavin ML, Yamasaki M, Lemmon V. Adhesion molecules and inherited diseases of the human nervous system.Annu Rev Neurosci 1998;21:97-125
- 17145883Shtutman M, Levina E, Ohouo P, Baig M, Roninson IB. Cell Adhesion Molecule L1 Disrupts E-Cadherin-Containing Adherens Junctions and Increases Scattering and Motility of MCF7 Breast Carcinoma Cells.Cancer Res 2006 Dec 01;66(23):11370-80 View 803 categorized literature findings and their references in IPA
Molecular Functions
identical protein binding, integrin binding, protein binding, sialic acid binding
Protein Domains
cytoplasmic domain, Fibronectin type III domain, immunoglobulin domain, integrin binding, protein binding, protein self binding
Subcellular Locations
actin filaments, axons, cell body, cell membrane leading edge, cell surface, cell-cell contacts, cellular membrane, cytoplasm, detergent resistant lipid raft fraction, detergent-insoluble membrane fraction, detergent-soluble fraction, endosomes, growth cone, membrane fraction, myelin enriched fraction, nucleus, perinuclear region, pH resistant lipid raft fraction, plasma membrane, vesicles
