| Tag | Content |
|---|---|
| Uniprot ID | Q03347; O08598; Q62049; Q9ESB9; Q9ET65; |
| Entrez ID | |
| Genbank protein ID | CAA65976.1; AAG32957.1; BAB08105.1; BAA05535.1; BAA02960.1; AAK29784.1; |
| Genbank nucleotide ID | |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Runt-related transcription factor 1 |
| Gene symbol | Runx1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E12.0, E13.0, E12.5, E14.0, E14.5, E16.0 |
| Data sources | Manually collected |
| Reference | 19000669 |
| Functional description | 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 (PubMed:18258917). CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (PubMed:23481257). 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 (PubMed:21151104). |
| Sequence | MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDGGPAL ASKLRSGDRS MVEVLADHPG 60 ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA 120 TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR 180 QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM 240 QDARQIQPSP PWSYDQSYQY LGSITSSSVH PATPISPGRA SGMTSLSAEL SSRLSTAPDL 300 TAFGDPRQFP TLPSISDPRM HYPGAFTYSP PVTSGIGIGM SAMSSASRYH TYLPPPYPGS 360 SQAQAGPFQT GSPSYHLYYG ASAGSYQFSM VGGERSPPRI LPPCTNASTG AALLNPSLPS 420 QSDVVETEGS HSNSPTNMPP ARLEEAVWRP Y 451 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003677 | DNA binding | ISO |
| GO:0003677 | DNA binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0005509 | calcium ion binding | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0008134 | transcription factor binding | ISO |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0044212 | transcription regulatory region DNA binding | ISO |
| GO:0046982 | protein heterodimerization activity | ISO |
| GO:0070491 | repressing transcription factor binding | IPI |
| GO:1990837 | sequence-specific double-stranded DNA binding | ISO |
| GO:1990841 | promoter-specific chromatin binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0001501 | skeletal system development | IMP |
| GO:0001503 | ossification | IBA |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001889 | liver development | IMP |
| GO:0002062 | chondrocyte differentiation | IBA |
| GO:0002318 | myeloid progenitor cell differentiation | IMP |
| GO:0002667 | regulation of T cell anergy | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0007417 | central nervous system development | IMP |
| GO:0008285 | negative regulation of cell population proliferation | IMP |
| GO:0009966 | regulation of signal transduction | IMP |
| GO:0030097 | hemopoiesis | ISO |
| GO:0030097 | hemopoiesis | TAS |
| GO:0030097 | hemopoiesis | IBA |
| GO:0030099 | myeloid cell differentiation | ISO |
| GO:0030182 | neuron differentiation | IMP |
| GO:0030182 | neuron differentiation | IBA |
| GO:0030853 | negative regulation of granulocyte differentiation | ISO |
| GO:0030854 | positive regulation of granulocyte differentiation | ISS |
| GO:0030854 | positive regulation of granulocyte differentiation | ISO |
| GO:0031069 | hair follicle morphogenesis | IMP |
| GO:0032526 | response to retinoic acid | IDA |
| GO:0032729 | positive regulation of interferon-gamma production | IDA |
| GO:0032743 | positive regulation of interleukin-2 production | ISO |
| GO:0032743 | positive regulation of interleukin-2 production | IMP |
| GO:0035162 | embryonic hemopoiesis | IMP |
| GO:0043371 | negative regulation of CD4-positive, alpha-beta T cell differentiation | IDA |
| GO:0043378 | positive regulation of CD8-positive, alpha-beta T cell differentiation | IDA |
| GO:0045595 | regulation of cell differentiation | IBA |
| GO:0045766 | positive regulation of angiogenesis | IMP |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISS |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048266 | behavioral response to pain | IMP |
| GO:0048663 | neuron fate commitment | IMP |
| GO:0048666 | neuron development | IMP |
| GO:0060216 | definitive hemopoiesis | IMP |
| GO:0071336 | regulation of hair follicle cell proliferation | IMP |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | IDA |
| GO:1903431 | positive regulation of cell maturation | IMP |
| GO:2000872 | positive regulation of progesterone secretion | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005604 | basement membrane | IDA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005654 | nucleoplasm | TAS |
| GO:0016513 | core-binding factor complex | TAS |
| GO:0032991 | protein-containing complex | ISO |
| GO:0043231 | intracellular membrane-bounded organelle | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| PROSITE ID | PROSITE Term |
|---|---|
| PS51062 | RUNT |