L1 (protein)

L1 cell adhesion molecule
Identifiers
Symbols	L1CAM ; CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; S10; SPG1
External IDs	OMIM: 308840 MGI: 96721 HomoloGene: 20128 GeneCards: L1CAM Gene
Gene ontology Molecular function • integrin binding • sialic acid binding • identical protein binding • protein self-association Cellular component • plasma membrane • focal adhesion • external side of plasma membrane • cell surface • integral component of membrane • presynaptic membrane • terminal bouton • axonal growth cone Biological process • chemotaxis • cell adhesion • homophilic cell adhesion via plasma membrane adhesion molecules • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules • leukocyte cell-cell adhesion • cell surface receptor signaling pathway • nervous system development • axon guidance • blood coagulation • positive regulation of cell-cell adhesion • cell-cell adhesion mediated by integrin • homotypic cell-cell adhesion • positive regulation of axon extension • positive regulation of calcium-mediated signaling • leukocyte migration Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE L1CAM 204584 at tn.png
File:PBB GE L1CAM 204585 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3897	16728
Ensembl	ENSG00000198910	ENSMUSG00000031391
UniProt	P32004	n/a
RefSeq (mRNA)	NM_000425	NM_008478
RefSeq (protein)	NP_000416	NP_032504
Location (UCSC)	Chr X: 153.86 – 153.91 Mb	Chr X: 73.85 – 73.9 Mb
PubMed search	[1]	[2]

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 (cluster of differentiation 171).

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 (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant.

Interactions

L1 (protein) has been shown to interact with NUMB.

External links

• GeneReviews/NCBI/NIH/UW entry on L1 Syndrome
• L1 Cell Adhesion Molecule at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.