TISIDB

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Nucleus.
Domain	PF00853 Runt domain PF08504 Runx inhibition domain
Function	Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity). ; FUNCTION: Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation. ; FUNCTION: Isoform AML-1L interferes with the transactivation activity of RUNX1.

> Gene Ontology [ TOP ]
Biological Process	GO:0001501 skeletal system development GO:0001503 ossification GO:0001525 angiogenesis GO:0001819 positive regulation of cytokine production GO:0002062 chondrocyte differentiation GO:0002521 leukocyte differentiation GO:0002573 myeloid leukocyte differentiation GO:0002761 regulation of myeloid leukocyte differentiation GO:0002763 positive regulation of myeloid leukocyte differentiation GO:0007422 peripheral nervous system development GO:0030099 myeloid cell differentiation GO:0030851 granulocyte differentiation GO:0030852 regulation of granulocyte differentiation GO:0030854 positive regulation of granulocyte differentiation GO:0032623 interleukin-2 production GO:0032663 regulation of interleukin-2 production GO:0032743 positive regulation of interleukin-2 production GO:0045637 regulation of myeloid cell differentiation GO:0045639 positive regulation of myeloid cell differentiation GO:0045765 regulation of angiogenesis GO:0045766 positive regulation of angiogenesis GO:0048514 blood vessel morphogenesis GO:0048934 peripheral nervous system neuron differentiation GO:0048935 peripheral nervous system neuron development GO:0051216 cartilage development GO:0061448 connective tissue development GO:0071425 hematopoietic stem cell proliferation GO:0072089 stem cell proliferation GO:1901342 regulation of vasculature development GO:1902105 regulation of leukocyte differentiation GO:1902107 positive regulation of leukocyte differentiation GO:1903706 regulation of hemopoiesis GO:1903708 positive regulation of hemopoiesis GO:1904018 positive regulation of vasculature development
Molecular Function	GO:0001047 core promoter binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04530 Tight junction
Reactome	R-HSA-549127: Organic cation transport R-HSA-549132: Organic cation/anion/zwitterion transport R-HSA-425407: SLC-mediated transmembrane transport R-HSA-382551: Transmembrane transport of small molecules R-HSA-425366: Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between RUNX1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining

[ TOP ]

Literatures describing the relation between RUNX1 and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
26091714	Lung Carcinoma	Inhibit immunity	In this study, we found that inhibition of microRNA (miR)-9 promoted the differentiation of MDSCs with significantly reduced immunosuppressive function whereas overexpression of miR-9 markedly enhanced the function of MDSCs. Moreover, miR-9 regulated MDSCs differentiation by targeting the runt-related transcription factor 1, an essential transcription factor in regulating MDSC differentiation and function. Furthermore, the CREB was found to regulate miR-9 expression in MDSCs.
24449212	Acute Myeloid Leukemia	Inhibit immunity	PML-RARA and AML1-ETO are important oncogenic fusion proteins that play a central role in transformation to acute myeloid leukemia (AML). Furthermore, by using chromatin immunoprecepitation (ChIP) experiments, we show that AML1-ETO directly interacts with CD48.

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of RUNX1 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of RUNX1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-0.398	0.335
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.801	0.634
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.091	0.934
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.289	0.318
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.3	0.906
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.284	0.935
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.249	0.64
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.291	0.867
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.316	0.86
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.911	0.478
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	1.614	0.392
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.278	0.00108

> Mutation difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the mutation difference of RUNX1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	1.4	2.3	0.469
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	3.7	1.7	2	0.532
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	0	0	0	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	0	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	12.5	-12.5	0.52
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	28.6	-28.6	0.491
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	5.3	0	5.3	0.507
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	9.1	0	9.1	0.519
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of RUNX1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of RUNX1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by RUNX1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of RUNX1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of RUNX1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between RUNX1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	RUNX1
Name	runt-related transcription factor 1
Aliases	PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location	21q22.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting RUNX1 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

Browse RUNX1