Runt-related transcription factor 1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:protein gptkb:gene
gptkbp:alsoKnownAs	gptkb:AML1 gptkb:CBFA2
gptkbp:associatedWith	gptkb:acute_myeloid_leukemia gptkb:familial_platelet_disorder_with_propensity_to_myeloid_malignancy
gptkbp:binds	gptkb:gene
gptkbp:discoveredBy	gptkb:Yoshida_et_al.
gptkbp:discoveredIn	1991
gptkbp:domain	Runt domain
gptkbp:encodedBy	RUNX1 gene
gptkbp:Entrez_Gene_ID	861 ENSG00000159216
gptkbp:expressedIn	gptkb:thymus spleen bone marrow hematopoietic stem cells fetal liver
gptkbp:formsComplexWith	gptkb:CBFβ
gptkbp:function	transcription factor regulation of hematopoiesis
gptkbp:hasIsoform	RUNX1a RUNX1b RUNX1c
gptkbp:HGNC_ID	10471
https://www.w3.org/2000/01/rdf-schema#label	Runt-related transcription factor 1
gptkbp:involvedIn	embryonic development B-cell development T-cell development megakaryocyte differentiation myeloid cell differentiation
gptkbp:locatedOnChromosome	chromosome 21
gptkbp:memberOf	gptkb:RUNX_family
gptkbp:mergedInto	ETO (RUNX1-ETO fusion protein)
gptkbp:mutationAssociatedWith	leukemogenesis
gptkbp:OMIM	151385
gptkbp:orthologInMouse	gptkb:Runx1
gptkbp:orthologInZebrafish	runx1
gptkbp:phosphorylates	gptkb:CDK gptkb:ERK
gptkbp:regulates	gptkb:GATA1 gptkb:CD34 gptkb:MYB gptkb:CSF1R gptkb:IL3 gptkb:PU.1 gene expression in hematopoietic cells
gptkbp:symbol	gptkb:RUNX1
gptkbp:target	gptkb:translocation_t(8;21)
gptkbp:UniProtID	Q01196
gptkbp:bfsParent	gptkb:RUNX1
gptkbp:bfsLayer	7