Browse RUNX1

Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
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
 
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
 
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
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
  Literatures describing the relation between RUNX1 and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
26091714Lung CarcinomaInhibit immunityIn 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.
24449212Acute Myeloid LeukemiaInhibit immunityPML-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
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
  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
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
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 Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.3980.335
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.8010.634
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.0910.934
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.2890.318
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.30.906
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.2840.935
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.2490.64
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.2910.867
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.3160.86
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.9110.478
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 281.6140.392
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.2780.00108
> Mutation difference between responders and non-responders
 
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 Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.71.42.30.469
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21170001
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916012.5-12.50.52
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47028.6-28.60.491
1329033130MelanomaallAnti-PD-1 (nivolumab) 38275.305.30.507
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.109.10.519
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
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
 
> Receptor
 
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of RUNX1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between RUNX1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolRUNX1
Namerunt-related transcription factor 1
Aliases PEBP2A2; AMLCR1; aml1 oncogene; AML1; CBFA2; acute myeloid leukemia 1; CBF2alpha; PEBP2aB; PEBP2alpha; CBF-a ......
Chromosomal Location21q22.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting RUNX1 collected from DrugBank database.
> Drugs from DrugBank database
 

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