|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alias
|
gptkb:CAML1
gptkb:CD171
gptkb:N-CAM-L1
gptkb:Neural_cell_adhesion_molecule_L1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:L1_syndrome
gptkb:MASA_syndrome
gptkb:X-linked_hydrocephalus
gptkb:spastic_paraplegia_type_1
|
|
gptkbp:discoveredBy
|
gptkb:M._Schachner
|
|
gptkbp:discoveredIn
|
1984
|
|
gptkbp:domain
|
immunoglobulin-like domain
fibronectin type-III domain
|
|
gptkbp:encodedBy
|
gptkb:L1CAM_gene
|
|
gptkbp:Entrez_Gene_ID
|
3897
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
gptkb:kidney
intestine
|
|
gptkbp:fullName
|
gptkb:L1_cell_adhesion_molecule
|
|
gptkbp:function
|
neurite outgrowth
cell adhesion
axon guidance
neuronal migration
|
|
gptkbp:gene
|
gptkb:L1CAM
|
|
gptkbp:HGNC_ID
|
HGNC:6486
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
L1CAM
|
|
gptkbp:interactsWith
|
gptkb:FGFR1
gptkb:integrins
gptkb:ankyrin
gptkb:NCAM1
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
|
|
gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:molecularWeight
|
140-220 kDa
|
|
gptkbp:mutationAssociatedWith
|
hydrocephalus
intellectual disability
spasticity
adducted thumbs
|
|
gptkbp:OMIM
|
308840
|
|
gptkbp:orthologIn
|
gptkb:mouse_L1cam
gptkb:rat_L1cam
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:roleInCancer
|
metastasis
tumor progression
poor prognosis marker
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:structure
|
gptkb:immunoglobulin_superfamily
|
|
gptkbp:UniProtID
|
P32004
|
|
gptkbp:bfsParent
|
gptkb:Xq28
|
|
gptkbp:bfsLayer
|
6
|