Tbio L1CAM Neural cell adhesion molecule L1

Protein Summary

Description

Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity. 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]

Uniprot Accession IDs

• P32004
• A0AV65
• A4ZYW4
• B2RMU7
• G3XAF4
• Q8TA87
• N-CAM-L1

Gene Name

• L1CAM

Ensembl ID

• ENST00000361699
• ENSP00000355380
• ENSG00000198910
• ENST00000361981
• ENSP00000354712
• ENST00000370055
• ENSP00000359072
• ENST00000370060
• ENSP00000359077

Symbol

• CAML1
• MIC5
• S10
• HSAS
• MASA
• MIC5
• SPG1
• CAML1
• CD171
• HSAS1
• N-CAML1
• NCAM-L1
• N-CAM-L1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
transcription factor perturbation	0.88
biological term	0.86
ligand (protein) perturbation	0.83
phenotype	0.79

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 396.01   (req: < 5)

Gene RIFs: 212   (req: <= 3)

Antibodies: 995   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 396.01   (req: >= 5)

Gene RIFs: 212   (req: > 3)

Antibodies: 995   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0