|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:SCS
gptkb:Twist
bHLHa38
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
Saethre-Chotzen syndrome
|
|
gptkbp:discoveredBy
|
Howard M. Goodman
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:encodes
|
Twist-related protein 1
|
|
gptkbp:Entrez_Gene_ID
|
7291
ENSG00000122691
|
|
gptkbp:expressedIn
|
embryonic tissues
mesenchyme
|
|
gptkbp:function
|
transcription factor
epithelial-mesenchymal transition
regulation of embryonic development
regulation of mesodermal cell differentiation
|
|
gptkbp:HGNC_ID
|
12428
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TWIST1
|
|
gptkbp:interactsWith
|
gptkb:CBP/p300
gptkb:E12
gptkb:HDAC1
gptkb:p53
gptkb:E47
RUNX2
|
|
gptkbp:length
|
202
|
|
gptkbp:locatedOnChromosome
|
7p21.1
|
|
gptkbp:molecularWeight_kDa
|
21.1
|
|
gptkbp:mutationAssociatedWith
|
craniosynostosis
|
|
gptkbp:OMIM
|
601622
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Twist1
|
|
gptkbp:orthologInZebrafish
|
twist1a
twist1b
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
acetylation
|
|
gptkbp:proteinFamily
|
basic helix-loop-helix (bHLH) transcription factors
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
cell migration
myogenesis
osteoblast differentiation
neural crest cell development
cell lineage specification
|
|
gptkbp:regulatoryElement
|
gptkb:E-box
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q15672
|
|
gptkbp:bfsParent
|
gptkb:chromosome_7
|
|
gptkbp:bfsLayer
|
6
|