Neural cell adhesion molecule L1

GPTKB entity

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
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	gptkb: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
https://www.w3.org/2000/01/rdf-schema#label	Neural cell adhesion molecule L1