|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:BCL11A
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
sickle cell disease
|
|
gptkbp:discoveredBy
|
Lennart Philipson group
|
|
gptkbp:discoveredIn
|
2000
|
|
gptkbp:domain
|
gptkb:C2H2-type_zinc_finger
Krüppel-like zinc finger
|
|
gptkbp:encodedBy
|
BCL11A gene
|
|
gptkbp:Entrez_Gene_ID
|
53335
|
|
gptkbp:expressedIn
|
brain
hematopoietic cells
|
|
gptkbp:fullName
|
C-terminal binding protein interacting protein 1
|
|
gptkbp:function
|
regulation of gene expression
transcriptional repressor
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CTIP1
|
|
gptkbp:interactsWith
|
C-terminal binding protein (CtBP)
|
|
gptkbp:involvedIn
|
hematopoiesis
fetal to adult hemoglobin switching
|
|
gptkbp:locatedOnChromosome
|
2p16.1
|
|
gptkbp:molecularWeight
|
~98 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
|
|
gptkbp:OMIM
|
606557
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Bcl11a
|
|
gptkbp:orthologInZebrafish
|
bcl11aa
|
|
gptkbp:PDB
|
6E7V
|
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
acetylation
|
|
gptkbp:regulates
|
gptkb:p21
gptkb:p53
gptkb:SOX2
gptkb:MYC
gptkb:BCL2L11
neuronal differentiation
B-cell development
T-cell development
erythroid cell development
gamma-globin gene expression
globin gene switching
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
chromatin
|
|
gptkbp:target
|
gene therapy for hemoglobinopathies
|
|
gptkbp:UniProtID
|
gptkb:Q9H165
|
|
gptkbp:bfsParent
|
gptkb:BCL11A
|
|
gptkbp:bfsLayer
|
7
|