Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:WAVE1
|
| gptkbp:associatedWith |
neurodevelopmental disorder with absent language and variable seizures
|
| gptkbp:encodes |
WAVE1 protein
|
| gptkbp:Entrez_Gene_ID |
8936
ENSG00000105879 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain various tissues |
| gptkbp:foundIn |
gptkb:Mus_musculus
gptkb:Homo_sapiens gptkb:Rattus_norvegicus |
| gptkbp:fullName |
WAS protein family member 1
|
| gptkbp:HGNC_ID |
12733
|
| https://www.w3.org/2000/01/rdf-schema#label |
WASF1
|
| gptkbp:interactsWith |
gptkb:CYFIP1
gptkb:RAC1 gptkb:ABI1 BRK1 NAP1 |
| gptkbp:involvedIn |
signal transduction
cell migration actin cytoskeleton organization |
| gptkbp:locatedOnChromosome |
7q31.3
|
| gptkbp:memberOf |
gptkb:WAVE_regulatory_complex
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
epilepsy intellectual disability |
| gptkbp:orthologInMouse |
Wasf1
|
| gptkbp:UniProtID |
Q92558
|
| gptkbp:bfsParent |
gptkb:CDC42
|
| gptkbp:bfsLayer |
7
|