|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:MENA
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
cell migration
cancer metastasis
|
|
gptkbp:domain
|
gptkb:EVH1_domain
proline-rich region
EVH2 domain
|
|
gptkbp:encodes
|
Protein ENAH
|
|
gptkbp:Entrez_Gene_ID
|
55740
ENSG00000178568
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
various tissues
|
|
gptkbp:fullName
|
Enabled homolog
|
|
gptkbp:function
|
cell motility
axon guidance
actin cytoskeleton regulation
|
|
gptkbp:HGNC_ID
|
HGNC:3346
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENAH
|
|
gptkbp:interactsWith
|
gptkb:actin
profilin
lamellipodin
|
|
gptkbp:locatedOnChromosome
|
1
|
|
gptkbp:location
|
1q42.12
|
|
gptkbp:mutationAssociatedWith
|
affects cell migration
impairs axon guidance
|
|
gptkbp:OMIM
|
609061
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Drosophila enabled (ena)
|
|
gptkbp:proteinFamily
|
Ena/VASP family
|
|
gptkbp:regulates
|
filopodia formation
lamellipodia dynamics
|
|
gptkbp:relatedTo
|
gptkb:EVL
gptkb:VASP
|
|
gptkbp:UniProtID
|
Q8NE79
|
|
gptkbp:bfsParent
|
gptkb:National_School_of_Anthropology_and_History
|
|
gptkbp:bfsLayer
|
7
|