L1 (protein)

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	OMIM: 308840; MGI: 96721; HomoloGene: 20128; GeneCards: L1CAM; OMA:L1CAM - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 153,861,514 bp[1] End 153,886,173 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.43 cM Start 72,897,384 bp[2] End 72,939,711 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum spinal ganglia trigeminal ganglion cerebellar vermis sural nerve paraflocculus of cerebellum olfactory bulb Brodmann area 10 right frontal lobe superior frontal gyrus Top expressed in medial dorsal nucleus superior cervical ganglion subiculum lateral geniculate nucleus barrel cortex medial geniculate nucleus ventromedial nucleus paraventricular nucleus of hypothalamus dorsomedial hypothalamic nucleus nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein domain specific binding axon guidance receptor activity Cellular component cell projection growth cone membrane focal adhesion cell surface integral component of membrane axonal growth cone plasma membrane axon dendrite neuronal cell body extracellular matrix collagen-containing extracellular matrix Biological process multicellular organism development nervous system development positive regulation of axon extension cell differentiation leukocyte migration cell adhesion chemotaxis cell-matrix adhesion axon guidance cell migration neuron projection development synapse organization axon development homophilic cell adhesion via plasma membrane adhesion molecules Sources:Amigo / QuickGO
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 NM_001374694 RefSeq (protein) NP_000416 NP_001137435 NP_001265045 NP_076493 n/a Location (UCSC) Chr X: 153.86 – 153.89 Mb Chr X: 72.9 – 72.94 Mb PubMed search [3] [4]
Wikidata
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L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200 to 220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation.^[5] It also plays a key role in treatment-resistant cancers due to its function. It was first identified in 1984 by M. Schachner who found the protein in post-mitotic mice neurons.

Mutations in the L1 protein are the cause of L1 syndrome, sometimes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus).^[6]