Statements (69)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alsoKnownAs |
gptkb:RUNX1
|
| gptkbp:binds |
core-binding factor (CBF) DNA sequence
|
| gptkbp:discoveredBy |
gptkb:Yoshida_et_al.
|
| gptkbp:domain |
Runt domain
|
| gptkbp:encodedBy |
RUNX1 gene
|
| gptkbp:Entrez_Gene_ID |
861
ENSG00000159216 |
| gptkbp:expressedIn |
bone marrow
hematopoietic stem cells |
| gptkbp:firstDescribed |
1991
|
| gptkbp:formsComplexWith |
gptkb:CBFβ
|
| gptkbp:formsFusionGeneWith |
ETO (RUNX1-ETO fusion in t(8;21) leukemia)
TEL (RUNX1-TEL fusion in t(12;21) leukemia) CBFA2T3 (RUNX1-CBFA2T3 fusion in t(16;21) leukemia) |
| gptkbp:function |
transcription factor
|
| gptkbp:gene |
gptkb:RUNX1
|
| gptkbp:HGNC_ID |
10471
|
| https://www.w3.org/2000/01/rdf-schema#label |
AML1
|
| gptkbp:involvedIn |
hematopoiesis
|
| gptkbp:locatedOnChromosome |
21q22
|
| gptkbp:mutationAssociatedWith |
gptkb:acute_myeloid_leukemia
gptkb:familial_platelet_disorder_with_propensity_to_myeloid_malignancy leukemia |
| gptkbp:OMIM |
151385
|
| gptkbp:orthologInMouse |
gptkb:Runx1
|
| gptkbp:PDB |
1E50
1G3J 1H8A 1H8B 1H8C 1H8D 1H8E 1H8F 1H8G 1H8H 1H8I 1H8J 1H8K 1H8L 1H8M 1H8N 1H8O 1H8P 1H8Q 1H8R 1H8S 1H8T 1H8U 1H8V 1H8W 1H8X 1H8Y 1H8Z 1H9D 1IO4 1LJM |
| gptkbp:proteinFamily |
Runt domain family
|
| gptkbp:regulates |
lymphoid lineage commitment
megakaryocyte differentiation differentiation of blood cells gene expression in hematopoietic cells myeloid lineage commitment |
| gptkbp:significance |
biomarker for leukemia diagnosis
prognostic marker in leukemia |
| gptkbp:target |
chromosomal translocations in leukemia
|
| gptkbp:UniProtID |
Q01196
|
| gptkbp:bfsParent |
gptkb:RUNX1
|
| gptkbp:bfsLayer |
7
|