L1CAM

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 X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

Description

L1 cell adhesion molecule

Tissue specificity

Tissue enhanced (brain, intestine)

Subcell location

Nucleoplasm, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

CD markers
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (153861514 - 153886173)

Ensembl ID

ENSG00000198910  (ver. 103.38)

Orthologs

Mouse L1cam: ENSMUSG00000031391

UniProt

P32004

neXtProt

NX_P32004

Human splice variants
Mouse splice variants

Protein structure