Neural cell adhesion molecule L1

URI: https://gptkb.org/entity/Neural_cell_adhesion_molecule_L1
GPTKB entity
Statements (37)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alsoKnownAs gptkb:L1CAM
gptkbp:associatedWith gptkb:L1_syndrome
gptkb:MASA_syndrome
gptkb:X-linked_hydrocephalus
gptkbp:discoveredIn 1980s
gptkbp:domain immunoglobulin-like domains
fibronectin type III domains
gptkbp:encodedBy gptkb:L1CAM_gene
gptkbp:Entrez_Gene_ID 3897
gptkbp:expressedIn gptkb:nervous_system
developing brain
gptkbp:foundIn humans
mammals
gptkbp:function neurite outgrowth
cell adhesion
axon guidance
neuronal migration
https://www.w3.org/2000/01/rdf-schema#label Neural cell adhesion molecule L1
gptkbp:interactsWith gptkb:FGFR1
gptkb:integrins
gptkb:ankyrin
gptkb:NCAM
gptkbp:locatedOnChromosome gptkb:Xq28
gptkbp:location gptkb:cell_membrane
gptkbp:molecularWeight ~200-220 kDa
gptkbp:mutationAssociatedWith intellectual disability
corpus callosum agenesis
adducted thumbs
spastic paraplegia
gptkbp:OMIM 308840
gptkbp:significance neurological disorders
cancer metastasis
gptkbp:structure gptkb:immunoglobulin_superfamily
gptkbp:UniProtID P32004
gptkbp:bfsParent gptkb:L1CAM
gptkbp:bfsLayer 7