RUNX1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0043371Biological processnegative regulation of CD4-positive, alpha-beta T cell differentiation
GO_0030097Biological processhemopoiesis
GO_0045766Biological processpositive regulation of angiogenesis
GO_0006357Biological processregulation of transcription by RNA polymerase II
GO_0002062Biological processchondrocyte differentiation
GO_0030854Biological processpositive regulation of granulocyte differentiation
GO_0000122Biological processnegative regulation of transcription by RNA polymerase II
GO_0061026Biological processcardiac muscle tissue regeneration
GO_0071425Biological processhematopoietic stem cell proliferation
GO_0032743Biological processpositive regulation of interleukin-2 production
GO_0060043Biological processregulation of cardiac muscle cell proliferation
GO_0030182Biological processneuron differentiation
GO_1903055Biological processpositive regulation of extracellular matrix organization
GO_0032967Biological processpositive regulation of collagen biosynthetic process
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0043378Biological processpositive regulation of CD8-positive, alpha-beta T cell differentiation
GO_0045595Biological processregulation of cell differentiation
GO_0048935Biological processperipheral nervous system neuron development
GO_1905203Biological processregulation of connective tissue replacement
GO_0002573Biological processmyeloid leukocyte differentiation
GO_0010755Biological processregulation of plasminogen activation
GO_0001503Biological processossification
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0005654Cellular componentnucleoplasm
GO_0016513Cellular componentcore-binding factor complex
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0000785Cellular componentchromatin
GO_0005634Cellular componentnucleus
GO_0000978Molecular functionRNA polymerase II cis-regulatory region sequence-specific DNA binding
GO_0001228Molecular functionDNA-binding transcription activator activity, RNA polymerase II-specific
GO_0000977Molecular functionRNA polymerase II transcription regulatory region sequence-specific DNA binding
GO_0000981Molecular functionDNA-binding transcription factor activity, RNA polymerase II-specific
GO_0000976Molecular functiontranscription cis-regulatory region binding
GO_0005524Molecular functionATP binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameRUNX1
Protein nameRUNX1 mutant
RUNX family transcription factor 1
Runt-related transcription factor 1/NDC1 transmembrane nucleoporin fusion protein
Runt-related transcription factor
RUNX1 protein
Mutant RUNX1
RUNX1/RUNX1T1 fusion protein
Runt-related transcription factor 1 (Acute myeloid leukemia 1 protein) (Core-binding factor subunit alpha-2) (CBF-alpha-2) (Oncogene AML-1) (Polyomavirus enhancer-binding protein 2 alpha B subunit) (PEA2-alpha B) (PEBP2-alpha B) (SL3-3 enhancer factor 1 alpha B subunit) (SL3/AKV core-binding factor alpha B subunit)
SynonymsCBFA2
TMEM48
AML1
fusion
RUNX1T1
DescriptionFUNCTION: 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 . Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter . 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 . 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. .

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. .

AccessionsX5CC30
Q2TAM6
ENST00000300305.7 [Q01196-8]
ENST00000416754.1
C9JWM1
ENST00000344691.8 [Q01196-1]
ENST00000482318.5
ENST00000475045.6
V9GYT3
ENST00000399237.6
ENST00000399240.5
ENST00000437180.5 [Q01196-8]
X5C9T4
X5CR08
ENST00000675419.1 [Q01196-8]
X5C9T0
Q01196
X5C3Z9
X5CT67
X5C404
U5P039
A0A0C4DG58
H9KVB1
X5CR12
A8MZI9
ENST00000358356.9 [Q01196-3]
X5CT71
V9GYT5
X5CR15
A0A6M6RJQ2
A0A7D4XPZ8
ENST00000455571.5
X5CC24
A0A023PPR2