Synonyms: | L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1 |
Background: | 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. |
UniProt Protein Function: | 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. |
NCBI 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 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 Code: | P32004 |
NCBI GenInfo Identifier: | 1705571 |
NCBI Gene ID: | 3897 |
NCBI Accession: | P32004.2 |
UniProt Secondary Accession: | P32004,Q8TA87, A0AV65, A4ZYW4, B2RMU7, G3XAF4, |
UniProt Related Accession: | P32004 |
Molecular Weight: | 138,908 Da |
NCBI Full Name: | Neural cell adhesion molecule L1 |
NCBI Synonym Full Names: | L1 cell adhesion molecule |
NCBI Official Symbol: | L1CAM |
NCBI Official Synonym Symbols: | S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1 |
NCBI Protein Information: | neural cell adhesion molecule L1 |
UniProt Protein Name: | Neural cell adhesion molecule L1 |
UniProt Synonym Protein Names: | CD_antigen: CD171 |
Protein Family: | Neural cell adhesion molecule |
UniProt Gene Name: | L1CAM |