|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:DVL
Dsh
Dishevelled-1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:neuroblastoma
gptkb:Robinow_syndrome
|
|
gptkbp:biologicalProcess
|
gptkb:Wnt_receptor_signaling_pathway
embryonic development
signal transduction
protein binding
cell polarity regulation
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
gptkb:cytoplasm
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
Nusse R et al.
|
|
gptkbp:encodes
|
Dishevelled-1
|
|
gptkbp:Entrez_Gene_ID
|
1855
ENSG00000107404
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:fullName
|
Dishevelled Segment Polarity Protein 1
|
|
gptkbp:HGNC_ID
|
HGNC:3084
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DVL1 gene
|
|
gptkbp:interactsWith
|
gptkb:Frizzled_receptors
gptkb:GSK3B
gptkb:APC
gptkb:AXIN1
gptkb:beta-catenin
CSNK1E
DAAM1
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p36.3-p36.2
|
|
gptkbp:mutationAssociatedWith
|
skeletal dysplasia
craniofacial abnormalities
|
|
gptkbp:OMIM
|
601365
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Dvl1
|
|
gptkbp:orthologInZebrafish
|
dvl1a
dvl1b
|
|
gptkbp:pathway
|
gptkb:Wnt_signaling_pathway
gptkb:beta-catenin_signaling_pathway
planar cell polarity pathway
|
|
gptkbp:proteinFamily
|
gptkb:DIX_domain
DEP domain
PDZ domain
|
|
gptkbp:regulates
|
cell proliferation
cell migration
cell fate determination
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
brain
heart
|
|
gptkbp:UniProtID
|
O14640
|
|
gptkbp:bfsParent
|
gptkb:Dishevelled
|
|
gptkbp:bfsLayer
|
7
|