MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
1CMO		IMMUNOGLOBULIN MOTIF DNA-RECOGNITION AND HETERODIMERIZATION FOR THE PEBP2/CBF RUNT-DOMAIN
1CO1		FOLD OF THE CBFA
1E50	2.6	AML1/CBFbeta complex
1H9D	2.6	Aml1/cbf-beta/dna complex
1LJM	2.5	DNA recognition is mediated by conformational transition and by DNA bending

GO term

GO ontology	GO term	GO description
Biological Process	GO:0061026	cardiac muscle tissue regeneration
Biological Process	GO:0071425	hematopoietic stem cell proliferation
Biological Process	GO:0030097	hemopoiesis
Biological Process	GO:0030099	myeloid cell differentiation
Biological Process	GO:0002573	myeloid leukocyte differentiation
Biological Process	GO:0043371	negative regulation of CD4-positive, alpha-beta T cell differentiation
Biological Process	GO:0030853	negative regulation of granulocyte differentiation
Biological Process	GO:0000122	negative regulation of transcription by RNA polymerase II
Biological Process	GO:0030182	neuron differentiation
Biological Process	GO:0048935	peripheral nervous system neuron development
Biological Process	GO:0043378	positive regulation of CD8-positive, alpha-beta T cell differentiation
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0045766	positive regulation of angiogenesis
Biological Process	GO:0032967	positive regulation of collagen biosynthetic process
Biological Process	GO:1903055	positive regulation of extracellular matrix organization
Biological Process	GO:0030854	positive regulation of granulocyte differentiation
Biological Process	GO:0032743	positive regulation of interleukin-2 production
Biological Process	GO:0045944	positive regulation of transcription by RNA polymerase II
Biological Process	GO:0060043	regulation of cardiac muscle cell proliferation
Biological Process	GO:0045595	regulation of cell differentiation
Biological Process	GO:1905203	regulation of connective tissue replacement
Biological Process	GO:0010755	regulation of plasminogen activation
Biological Process	GO:0006357	regulation of transcription by RNA polymerase II
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific
Molecular Function	GO:0003700	DNA-binding transcription factor activity
Molecular Function	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific
Molecular Function	GO:0140297	DNA-binding transcription factor binding
Molecular Function	GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding
Molecular Function	GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding
Molecular Function	GO:0005509	calcium ion binding
Molecular Function	GO:0046982	protein heterodimerization activity
Molecular Function	GO:0042803	protein homodimerization activity
Molecular Function	GO:0000976	transcription cis-regulatory region binding
Molecular Function	GO:0001223	transcription coactivator binding
Molecular Function	GO:0001222	transcription corepressor binding
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0016513	core-binding factor complex
Cellular Component	GO:0043231	intracellular membrane-bounded organelle
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus

InterPro / Pfam

InterPro	InterPro name
IPR000040	Acute myeloid leukemia 1 protein (AML1)/Runt
IPR008967	p53-like transcription factor, DNA-binding domain superfamily
IPR012346	p53/RUNT-type transcription factor, DNA-binding domain superfamily
IPR013524	Runt domain
IPR013711	Runx, C-terminal domain
IPR016554	Runt-related transcription factor RUNX
IPR027384	Runx, central domain superfamily

Pfam	Pfam name
PF00853	Runt domain
PF08504	Runx inhibition domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1912408	Pre-NOTCH Transcription and Translation	Leaf	R-HSA-162582	Signal Transduction
R-HSA-549127	Organic cation transport	Leaf	R-HSA-382551	Transport of small molecules
R-HSA-8877330	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8931987	RUNX1 regulates estrogen receptor mediated transcription	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8934593	Regulation of RUNX1 Expression and Activity	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8935964	RUNX1 regulates expression of components of tight junctions	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939242	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939245	RUNX1 regulates transcription of genes involved in BCR signaling	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939246	RUNX1 regulates transcription of genes involved in differentiation of myeloid cells	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939247	RUNX1 regulates transcription of genes involved in interleukin signaling	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939256	RUNX1 regulates transcription of genes involved in WNT signaling	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8941333	RUNX2 regulates genes involved in differentiation of myeloid cells	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8951936	RUNX3 regulates p14-ARF	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9018519	Estrogen-dependent gene expression	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9616222	Transcriptional regulation of granulopoiesis	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-9692916	SARS-CoV-1 activates/modulates innate immune responses	Leaf	R-HSA-1643685	Disease

Subcellular location

Location	ECO term	Pubmed
Nucleus

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000421	Epistaxis
HP:0000939	Osteoporosis
HP:0000978	Bruising susceptibility
HP:0000989	Pruritus
HP:0001025	Urticaria
HP:0001409	Portal hypertension
HP:0001410	Decreased liver function
HP:0001428	Somatic mutation
HP:0001433	Hepatosplenomegaly
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0001873	Thrombocytopenia
HP:0001875	Neutropenia
HP:0001876	Pancytopenia
HP:0001894	Thrombocytosis
HP:0001903	Anemia
HP:0001909	Leukemia
HP:0001911	Abnormal granulocyte morphology
HP:0001912	Abnormal basophil morphology
HP:0001945	Fever
HP:0001971	Hypersplenism
HP:0001974	Leukocytosis
HP:0002014	Diarrhea
HP:0002024	Malabsorption
HP:0002027	Abdominal pain
HP:0002039	Anorexia
HP:0002239	Gastrointestinal hemorrhage
HP:0002615	Hypotension
HP:0002653	Bone pain
HP:0002665	Lymphoma
HP:0002716	Lymphadenopathy
HP:0002756	Pathologic fracture
HP:0002797	Osteolysis
HP:0002829	Arthralgia
HP:0002863	Myelodysplasia
HP:0003006	Neuroblastoma
HP:0003010	Prolonged bleeding time
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003540	Impaired platelet aggregation
HP:0004377	Hematological neoplasm
HP:0004396	Poor appetite
HP:0004808	Acute myeloid leukemia
HP:0004845	Acute monocytic leukemia
HP:0005547	Myeloproliferative disorder
HP:0008066	Abnormal blistering of the skin
HP:0011121	Abnormality of skin morphology
HP:0011875	Abnormal platelet morphology
HP:0012378	Fatigue
HP:0012524	Abnormal platelet shape
HP:0012527	Abnormal alpha granule content
HP:0012529	Abnormal dense granule content
HP:0025142	Constitutional symptom
HP:0031284	Flushing
HP:0031408	Increased proportion of CD25+ mast cells
HP:0031901	Elevated total serum tryptase
HP:0032155	Abdominal cramps
HP:0040186	Maculopapular exanthema
HP:0100494	Abnormal mast cell morphology
HP:0100845	Anaphylactic shock

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Low	Enhanced
appendix	glandular cells	Low	Enhanced
appendix	lymphoid tissue	Medium	Enhanced
bone marrow	hematopoietic cells	Medium	Enhanced
breast	glandular cells	Medium	Enhanced
breast	myoepithelial cells	Medium	Enhanced
bronchus	basal cells	Medium	Enhanced
bronchus	ciliated cells (cell body)	Medium	Enhanced
caudate	neuronal cells	Low	Enhanced
cerebellum	Purkinje cells	Low	Enhanced
cerebellum	cells in molecular layer	Low	Enhanced
cerebral cortex	neuronal cells	Low	Enhanced
cervix	glandular cells	Medium	Enhanced
colon	glandular cells	Low	Enhanced
duodenum	glandular cells	Medium	Enhanced
endometrium 1	cells in endometrial stroma	Low	Enhanced
endometrium 1	glandular cells	Low	Enhanced
endometrium 2	cells in endometrial stroma	Low	Enhanced
endometrium 2	glandular cells	Low	Enhanced
epididymis	glandular cells	Low	Enhanced
fallopian tube	ciliated cells (cell body)	Medium	Enhanced
gallbladder	glandular cells	Low	Enhanced
heart muscle	cardiomyocytes	Low	Enhanced
hippocampus	neuronal cells	Low	Enhanced
kidney	cells in tubules	Low	Enhanced
lung	alveolar cells type I	Medium	Enhanced
lung	alveolar cells type II	Medium	Enhanced
lung	macrophages	Medium	Enhanced
lymph node	germinal center cells	Medium	Enhanced
lymph node	non-germinal center cells	Medium	Enhanced
nasopharynx	basal cells	High	Enhanced
nasopharynx	ciliated cells (cell body)	High	Enhanced
ovary	ovarian stroma cells	Low	Enhanced
pancreas	pancreatic endocrine cells	Low	Enhanced
placenta	decidual cells	Medium	Enhanced
placenta	trophoblastic cells	Low	Enhanced
prostate	glandular cells	Low	Enhanced
rectum	glandular cells	Low	Enhanced
salivary gland	glandular cells	Low	Enhanced
skin 1	eccrine glands	High	Enhanced
skin 1	fibrohistiocytic cells	Low	Enhanced
skin 1	hair follicles	Medium	Enhanced
skin 1	lymphocytes	High	Enhanced
skin 2	fibrohistiocytic cells	Low	Enhanced
skin 2	lymphocytes	High	Enhanced
small intestine	glandular cells	Medium	Enhanced
soft tissue 1	fibroblasts	Medium	Enhanced
spleen	cells in red pulp	Medium	Enhanced
spleen	cells in white pulp	Low	Enhanced
stomach 1	glandular cells	Medium	Enhanced
stomach 2	glandular cells	Medium	Enhanced
testis	Leydig cells	Low	Enhanced
testis	cells in seminiferous ducts	Low	Enhanced
thyroid gland	glandular cells	Low	Enhanced
tonsil	germinal center cells	Medium	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Medium	Enhanced
urinary bladder	urothelial cells	Medium	Enhanced
vagina	squamous epithelial cells	Low	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
acute myeloid leukemia	MONDO:0018874	C92	chapter2, Neoplasms	OMIM:601626	Orphanet:519
aggressive systemic mastocytosis	MONDO:0020333	C96	chapter2, Neoplasms		Orphanet:98850
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1	MONDO:0100083	D69	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	OMIM:601399

Summary of Q01196

Gene: RUNX1, AML1, CBFA2
Protein: Runt-related transcription factor 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q01196

Gene: RUNX1, AML1, CBFA2 Protein: Runt-related transcription factor 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: RUNX1, AML1, CBFA2
Protein: Runt-related transcription factor 1