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)
End	153,886,173 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	72,939,711 bp
RNA expression pattern
	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
	; ;
	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; soma; 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
	3897
	16728
	ENSG00000198910
	ENSMUSG00000031391
	P32004
	P11627
	NM_024003; NM_000425; NM_001143963; NM_001278116
	NM_008478; NM_001374694
	NP_000416; NP_001137435; NP_001265045; NP_076493
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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. 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).