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Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.
RUNX1 (RUNX Family Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include Platelet Disorder, Familial, With Associated Myeloid Malignancy and Leukemia, Acute Myeloid. Among its related pathways are Transcriptional misregulation in cancer and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is RUNX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 21873977 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP | 9199349 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 17377532 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 9199349 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 7862156 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0016513 | core-binding factor complex | TAS | 18258917 |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Endometrial cancer | ||
3 | NF-kappaB Signaling | ||
4 | Pathways in cancer | ||
5 | Th17 cell differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0001503 | ossification | IBA | 21873635 |
GO:0001959 | regulation of cytokine-mediated signaling pathway | TAS | -- |
GO:0002062 | chondrocyte differentiation | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · | 13d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RUNX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RUNX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RUNX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Runx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Runx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RUNX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RUNX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RUNX1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RUNX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | runx1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC69003 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | RUNX1 (2 of 2) 31 |
|
OneToMany | |
runx1 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1379 32 |
|
|
|
CG15455 32 |
|
|
|||
run 31 32 |
|
ManyToMany | |||
RunxA 31 |
|
ManyToMany | |||
RunxB 31 |
|
ManyToMany | |||
lz 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rnt-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627081 | Likely Pathogenic: Pancytopenia | 34,880,563(-) | C/A | NONSENSE | |
627100 | Likely Pathogenic: Thrombocytopenia | 34,859,509(-) | A/T | MISSENSE_VARIANT | |
627101 | Likely Pathogenic: Storage pool disease of platelets | 34,834,593(-) | G/A | NONSENSE | |
627152 | Likely Pathogenic: Thrombocytopenia | 34,799,407(-) | G/C | NONSENSE | |
627342 | Likely Pathogenic: Thrombocytopenia; Familial platelet disorder with associated myeloid malignancy | 34,859,494(-) | T/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
platelet disorder, familial, with associated myeloid malignancy |
|
|
leukemia, acute myeloid |
|
|
acute myeloid leukemia with t(8;21)(q22;q22) translocation |
|
|
isolated delta-storage pool disease |
|
|
aggressive systemic mastocytosis |
|
|