L1 (protein)

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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 MGI: 96721 HomoloGene: 20128 GeneCards: 3897
RNA expression pattern
PBB GE L1CAM 204584 at tn.png

PBB GE L1CAM 204585 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024003
NM_000425
NM_001143963
NM_001278116

NM_008478

RefSeq (protein)

NP_000416.1
NP_001137435.1
NP_001265045.1
NP_076493.1

n/a

Location (UCSC) Chr X: 153.86 – 153.91 Mb Chr X: 73.85 – 73.9 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3]

Interactions[edit]

L1 (protein) has been shown to interact with NUMB.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: L1CAM L1 cell adhesion molecule". 
  4. ^ Nishimura, Takashi; Fukata Yuko; Kato Katsuhiro; Yamaguchi Tomoya; Matsuura Yoshiharu; Kamiguchi Hiroyuki; Kaibuchi Kozo (Sep 2003). "CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth". Nat. Cell Biol. England. 5 (9): 819–26. doi:10.1038/ncb1039. ISSN 1465-7392. PMID 12942088. 

Further reading[edit]

External links[edit]

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