InnateDB Protein
|
IDBP-364638.5
|
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
|
ENSP00000405158
|
InnateDB Gene
|
IDBG-2825 (RUNX1)
|
Protein Structure
|
|
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 |
|
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.
Experimentally validated |
Total |
120
[view]
|
Protein-Protein |
101
[view]
|
Protein-DNA |
19
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
42 [view]
|
|
|
Molecular Function |
|
Biological Process |
GO:0006351
|
transcription, DNA-templated
|
GO:0030097
|
hemopoiesis
|
GO:0030099
|
myeloid cell differentiation
|
GO:0030853
|
negative regulation of granulocyte differentiation
|
GO:0030854
|
positive regulation of granulocyte differentiation
|
GO:0045766
|
positive regulation of angiogenesis
|
GO:0045893
|
positive regulation of transcription, DNA-templated
|
GO:0045944
|
positive regulation of transcription from RNA polymerase II promoter
|
GO:0048935
|
peripheral nervous system neuron development
|
GO:0071425
|
hematopoietic stem cell proliferation
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q01196
|
PhosphoSite |
PhosphoSite-Q01196
|
TrEMBL |
X5CR08
|
UniProt Splice Variant |
|
Entrez Gene |
861
|
UniGene |
Hs.717697
|
RefSeq |
|
HUGO |
HGNC:10471
|
OMIM |
151385
|
CCDS |
|
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
KJ189464
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
AHW40009
BAA01426
BAA03089
BAA03559
BAA03560
BAA07902
BAA07903
BAA07904
BAA14020
BAA14021
BAA14022
CAA13070
CAA56092
CAA62464
CAA62466
EAX09769
EAX09770
|
|
|