Homo sapiens Protein: RUNX1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-2831.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | RUNX1 | ||||||||||||||||||||||
Protein Name | runt-related transcription factor 1 | ||||||||||||||||||||||
Synonyms | AML1; AML1-EVI-1; AMLCR1; CBFA2; EVI-1; PEBP2aB; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000340690 | ||||||||||||||||||||||
InnateDB Gene | IDBG-2825 (RUNX1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B- dependent transcriptional activation. {ECO:0000269PubMed:10207087, ECO:0000269PubMed:11965546, ECO:0000269PubMed:14970218, ECO:0000269PubMed:17431401}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. | ||||||||||||||||||||||
Disease Associations | Note=A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM.Note=A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H.Note=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein.Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]: Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. {ECO:0000269PubMed:10508512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16. | ||||||||||||||||||||||
Tissue Specificity | Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 120 experimentally validated interaction(s) in this database.
They are also associated with 42 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000040
Acute myeloid leukemia 1 protein (AML1)/Runt IPR008967 p53-like transcription factor, DNA-binding IPR013524 Runt domain IPR013711 Runx, C-terminal domain IPR016554 Runt-related transcription factor RUNX |
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PFAM |
PF00853
PF08504 |
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PRINTS |
PR00967
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PIRSF |
PIRSF009374
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SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q01196 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q01196 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 861 | ||||||||||||||||||||||
UniGene | Hs.717697 | ||||||||||||||||||||||
RefSeq | NP_001001890 | ||||||||||||||||||||||
HUGO | HGNC:10471 | ||||||||||||||||||||||
OMIM | 151385 | ||||||||||||||||||||||
CCDS | CCDS42922 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF015262 AF025841 AJ229043 AP000330 AP000331 AP000332 AP000333 AP000334 BC136380 BC136381 BC144053 CH471079 D10570 D13979 D14822 D14823 D43967 D43968 D43969 D89788 D89789 D89790 L21756 L34598 S50186 S60998 S69002 S74092 S76345 S76346 S76350 S78158 S78159 S78496 U19601 X79549 X90976 X90979 | ||||||||||||||||||||||
GenPept | AAA03086 AAA51720 AAB29907 AAB33729 AAB33730 AAB33731 AAB34819 AAB34820 AAB51691 AAC05246 AAC05247 AAI36381 AAI36382 AAI44054 BAA01426 BAA03089 BAA03559 BAA03560 BAA07902 BAA07903 BAA07904 BAA14020 BAA14021 BAA14022 CAA13070 CAA56092 CAA62464 CAA62466 EAX09769 EAX09770 | ||||||||||||||||||||||