L1 (protein)

L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 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.

L1CAM
Identifiers
AliasesL1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1 cell adhesion molecule
External IDsOMIM: 308840 MGI: 96721 HomoloGene: 20128 GeneCards: L1CAM
Orthologs
SpeciesHumanMouse
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 MbChr X: 72.9 – 72.94 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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).

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