L1CAM
Gene Ontology Biological Process
Gene Ontology Cellular Component
ANK3
Gene Ontology Biological Process
- Golgi to plasma membrane protein transport [ISO]
- axon guidance [ISO]
- axonogenesis [ISO]
- establishment of protein localization [ISO]
- maintenance of protein location in plasma membrane [ISO]
- membrane assembly [IGI, ISO]
- mitotic cytokinesis [ISO]
- neuromuscular junction development [IEP]
- neuronal action potential [ISO]
- plasma membrane organization [ISO]
- positive regulation of cation channel activity [IMP]
- positive regulation of cell communication by electrical coupling [IMP]
- positive regulation of gene expression [IMP]
- positive regulation of homotypic cell-cell adhesion [IMP]
- positive regulation of membrane depolarization during cardiac muscle cell action potential [IMP]
- positive regulation of membrane potential [IMP]
- positive regulation of protein targeting to membrane [IMP]
- positive regulation of sodium ion transmembrane transporter activity [IMP]
- positive regulation of sodium ion transport [IMP]
- protein localization to plasma membrane [IGI, IMP, ISO]
- protein targeting to plasma membrane [ISO]
- regulation of potassium ion transport [IDA]
- synapse organization [ISO]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- T-tubule [IDA]
- Z disc [IDA]
- axon [ISO]
- axon initial segment [IDA, ISO]
- basal plasma membrane [ISO]
- basolateral plasma membrane [ISO]
- cell [ISO]
- cell surface [IDA]
- costamere [TAS]
- dendrite [IDA]
- intercalated disc [IDA, ISO]
- intracellular [ISO]
- lateral plasma membrane [ISO]
- membrane [ISO]
- neuromuscular junction [IDA]
- neuron projection [IDA]
- node of Ranvier [IDA, ISO]
- paranode region of axon [ISO]
- plasma membrane [IDA]
- postsynaptic membrane [IDA]
- sarcolemma [IDA, ISO]
- sarcoplasmic reticulum [IDA]
- spectrin-associated cytoskeleton [IDA]
- synapse [ISO]
- tight junction [ISO]
Co-localization
Interaction inferred from two proteins that co-localize in the cell by indirect immunofluorescence only when in addition, if one gene is deleted, the other protein becomes mis-localized. Also includes co-dependent association of proteins with promoter DNA in chromatin immunoprecipitation experiments.
Publication
Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.
The neural adhesion molecule L1 mediates the axon outgrowth, adhesion, and fasciculation that are necessary for proper development of synaptic connections. L1 gene mutations are present in humans with the X-linked mental retardation syndrome CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, hydrocephalus). Three missense mutations associated with CRASH syndrome reside in the cytoplasmic domain of L1, which contains a ... [more]
Throughput
- Low Throughput
Curated By
- BioGRID