|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CD171
gptkb:N-CAM-L1
gptkb:Neural_cell_adhesion_molecule_L1
CAM 120/140
MIC5
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:L1_syndrome
gptkb:MASA_syndrome
gptkb:X-linked_hydrocephalus
gptkb:spastic_paraplegia_type_1
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for L1 syndrome
|
|
gptkbp:discoveredBy
|
Rathjen and Schachner
|
|
gptkbp:discoveredIn
|
1984
|
|
gptkbp:encodes
|
L1CAM protein
|
|
gptkbp:Entrez_Gene_ID
|
3897
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
high in fetal brain
low in adult brain
present in kidney and intestine
|
|
gptkbp:fullName
|
L1 cell adhesion molecule gene
|
|
gptkbp:function
|
neurite outgrowth
cell adhesion
axon guidance
neuronal migration
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:6484
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
L1CAM gene
|
|
gptkbp:interactsWith
|
gptkb:FGFR1
gptkb:integrins
gptkb:ankyrin
neurofascin
contactin
|
|
gptkbp:length
|
29 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
|
|
gptkbp:mutationAssociatedWith
|
hydrocephalus
intellectual disability
spasticity
adducted thumbs
|
|
gptkbp:OMIM
|
308840
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse_L1cam
gptkb:rat_L1cam
zebrafish l1cam
|
|
gptkbp:pathway
|
cell adhesion molecules pathway
axon guidance pathway
|
|
gptkbp:proteinFamily
|
gptkb:immunoglobulin_superfamily
|
|
gptkbp:relatedProteinDomain
|
immunoglobulin-like domain
fibronectin type-III domain
|
|
gptkbp:significance
|
mutations cause X-linked intellectual disability syndromes
|
|
gptkbp:UniProtID
|
P32004
|
|
gptkbp:bfsParent
|
gptkb:L1CAM
|
|
gptkbp:bfsLayer
|
7
|