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Description for Protein L1CAM

L1 cell adhesion molecule
23 total interacting proteins; 19 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • FN3: Fibronectin type 3 domain
  • TM: Transmembrane domain
  • Ig_LIKE: Immunoglobulin like
  • IGC2: Immunoglobulin C-2 Type
  • IG: Immunoglobulin
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06550
    KEGG - Pathway(s):
    hsa04360; hsa04514
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MIC5; Neural cell adhesion molecule L1; CAML1; N-CAM L1 CD171 antigen; L1 cell adhesion molecule isoform 2 precursor; L1 cell adhesion molecule isoform 1 precursor
    Approved Symbol:
    L1CAM
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 53
    Human (de-) phosphorylation sites: 53; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Crash syndrome(Pd);
  • Hydrocephalus, X-linked(Pd);
  • Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction(Pd);
  • Hydrocephalus, X-linked, with hirschsprung disease(Pd);
  • Hydrocephalus, X-linked, with hirschsprung disease and cleft palate(Pd);
  • Masa syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02394 Entrez Gene ID: 3897 OMIM ID: 308840 Swissprot Accession: P32004; A4ZYW4;