Homo sapiens Protein: RUNX1T1
Summary
InnateDB Protein IDBP-28424.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RUNX1T1
Protein Name runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
Synonyms AML1T1; CBFA2T1; CDR; ETO; MTG8; ZMYND2;
Species Homo sapiens
Ensembl Protein ENSP00000265814
InnateDB Gene IDBG-28420 (RUNX1T1)
Protein Structure
UniProt Annotation
Function Transcription regulator that excerts its function by binding to histone deacetylases and transcription factors. Can repress transactivation mediated by TCF12. {ECO:0000269PubMed:10973986, ECO:0000269PubMed:16803958}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00440, ECO:0000269PubMed:10973986}. Note=Colocalizes with ATN1 in discrete nuclear dots.
Disease Associations Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1.Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Tissue Specificity Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 68 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 68 [view]
Protein-Protein 67 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0016363 nuclear matrix
Protein Structure and Domains
PDB ID
InterPro IPR002893 Zinc finger, MYND-type
IPR003894 TAFH/NHR1
IPR013289 Eight-Twenty-One
IPR013290 Myeloid transforming gene on chromosome 8 (MTG8)
IPR014896 NHR2-like
PFAM PF01753
PF07531
PF08788
PRINTS PR01875
PR01876
PIRSF
SMART SM00549
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q06455
PhosphoSite PhosphoSite-Q06455
TrEMBL W8FW32
UniProt Splice Variant
Entrez Gene 862
UniGene Hs.739194
RefSeq NP_001185557
HUGO HGNC:1535
OMIM 133435
CCDS CCDS6256
HPRD 00590
IMGT
EMBL AB074982 AC103680 AC104339 AF018270 AF018271 AF018272 AF018273 AF018274 AF018275 AF018276 AF018277 AF018278 AF018279 AF018281 AF018282 AF018283 AF181450 AF198490 AK297616 BC005850 BC067078 BT009871 CH471060 CR456792 D13979 D14289 D14821 D14822 D14823 D43638 KF946514 KF946518 S50186 S74092 S74096 S78158 S78159 X79990
GenPept AAB32126 AAB34819 AAB34820 AAC26143 AAC28931 AAC28932 AAG33024 AAH05850 AAH67078 AAP88873 AHK05730 AHK05734 BAA03089 BAA03247 BAA03558 BAA03559 BAA03560 BAA07755 BAB88555 BAH12630 CAA56311 CAG33073 EAW91685