RUNX1T1
entrez
862
canonical
uniprot
Q06455
canonical
ensembl
ENSG00000079102
resolver
ensp
ENSP00000353504
resolver
ensp
ENSP00000379520
resolver
ensp
ENSP00000390137
resolver
ensp
ENSP00000402257
resolver
ensp
ENSP00000428543
resolver
ensp
ENSP00000428742
resolver
ensp
ENSP00000429062
resolver
ensp
ENSP00000429506
resolver
ensp
ENSP00000429864
resolver
ensp
ENSP00000430080
resolver
ensp
ENSP00000430204
resolver
ensp
ENSP00000430728
resolver
ensp
ENSP00000600753
resolver
ensp
ENSP00000616061
resolver
enst
ENST00000436581
resolver
enst
ENST00000518832
resolver
genesymbol
RUNX1T1
resolver
genesymbol_syn
AML1T1
resolver
genesymbol_syn
CBFA2T1
resolver
genesymbol_syn
CDR
resolver
genesymbol_syn
ETO
resolver
genesymbol_syn
MTG8
resolver
genesymbol_syn
ZMYND2
resolver
hgnc
HGNC:1535
resolver
uniprot
A0A087WWT6
resolver
uniprot
A0A0A0MSU1
resolver
uniprot
B2R6I9
resolver
uniprot
B7Z4P4
resolver
uniprot
E5RH72
resolver
uniprot
E7EPN4
resolver
uniprot
O14784
resolver
uniprot
Q06456
resolver
uniprot
Q14873
resolver
uniprot
Q16239
resolver
uniprot
Q16346
resolver
uniprot
Q16347
resolver
uniprot
Q6IBL1
resolver
uniprot
Q6NXH1
resolver
uniprot
Q7Z4J5
resolver
uniprot
Q92479
resolver
uniprot
Q9BRZ0
resolver
uniprot
W8FW32
resolver
uniprot_entry
A0A0A0MSU1_HUMAN
resolver
uniprot_entry
B2R6I9_HUMAN
resolver
uniprot_entry
E5RH72_HUMAN
resolver
uniprot_entry
MTG8_HUMAN
resolver
uniprot_entry
W8FW32_HUMAN
resolver
uniprot_sec
A0A087WWT6
resolver
uniprot_sec
B7Z4P4
resolver
uniprot_sec
E7EPN4
resolver
uniprot_sec
O14784
resolver
uniprot_sec
Q06456
resolver
uniprot_sec
Q14873
resolver
uniprot_sec
Q16239
resolver
uniprot_sec
Q16346
resolver
uniprot_sec
Q16347
resolver
uniprot_sec
Q6IBL1
resolver
uniprot_sec
Q6NXH1
resolver
uniprot_sec
Q7Z4J5
resolver
uniprot_sec
Q92479
resolver
uniprot_sec
Q9BRZ0
resolver
amino_acid_sequence
MISVKRNTWRALSLVIGDCRKKGNFEYCQDRTEKHSTMPDSPVDVKTQSRLTPPTMPPPPTTQGAPRTSSFTPTTLTNGTSHSPTALNGAPSPPNGFSNGPSSSSSSSLANQQLPPACGARQLSKLKRFLTTLQQFGNDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQNPAQYLAQHEQLLLDASTTSPVDSSELLLDVNENGKRRTPDRTKENGFDREPLHSEHPSKRPCTISPGQRYSPNNGLSYQPNGLPHPTPPPPQHYRLDDMAIAHHYRDSYRHPSHRDLRDRNRPMGLHGTRQEEMIDHRLTDREWAEEWKHLDHLLNCIMDMVEKTRRSLTVLRRCQEADREELNYWIRRYSDAEDLKKGGGSSSSHSRQQSPVNPDPVALDAHREFLHRPASGYVPEEIWKKAEEAVNEVKRQAMTELQKAVSEAERKAHDMITTERAKMERTVAEAKRQAAEDALAVINQQEDSSESCWNCGRKASETCSGCNTARYCGSFCQHKDWEKHHHICGQTLQAQQQGDTPAVSSSVTPNSGAGSPMDTPPAATPRSTTPGTPSTIETTPR
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving RUNX1T1 is frequently found in acute myeloid leukemia with maturation (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1 that results in the production of AML1-MTG8/ETO fusion protein. {ECO:0000269|PubMed:1423235, ECO:0000269|PubMed:7541640, ECO:0000269|PubMed:8334990, ECO:0000269|PubMed:8353289}.
uniprot
proteins
function
FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:10688654, PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). {ECO:0000250|UniProtKB:Q61909, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:10973986, ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23812588, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.
uniprot
proteins
mass_dalton
67566
uniprot
proteins
mutagenesis
MUTAGEN 125; /note="K->A,D: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958"; MUTAGEN 126; /note="L->A: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958"; MUTAGEN 128; /note="R->D: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958"; MUTAGEN 129; /note="F->A: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:17572682"; MUTAGEN 129; /note="F->K: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:17572682"; MUTAGEN 136; /note="F->A: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:17572682"; MUTAGEN 170; /note="Q->A: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:17572682"; MUTAGEN 173; /note="T->Q: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:17572682"; MUTAGEN 175; /note="F->A: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:17572682"; MUTAGEN 177; /note="L->A: Abolishes interaction with corepressor."; /evidence="ECO:0000269|PubMed:17572682"; MUTAGEN 178; /note="R->A,D: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958"; MUTAGEN 184; /note="F->A: Loss of interaction with TCF12."; /evidence="ECO:0000269|PubMed:16803958"; MUTAGEN 345; /note="L->E: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with R-357; R-360; E-361; E-375; R-378 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 352..353; /note="EE->AA: Decreases interaction with TCF12, no effect on oligomerization. Impairs AML1-MTG8/ETO activity in hematopoietic stem/progenitor cell self-renewal but no effect in inhibiting differentiation; when associated with 379-A--A-381."; /evidence="ECO:0000269|PubMed:23812588"; MUTAGEN 357; /note="L->R: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with E-345; R-360; E- 61; E-375; R-378 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 360; /note="L->R: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with E-345; R-357; E-361; E-375; R-378 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 361; /note="L->E: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with E-345; R-357; R-360; E-375; R-378 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 375; /note="L->E: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with E-345; R-357; R-360; E-361; R-378 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 378; /note="L->R: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2 when associated with E-345; R-357; R-360; E-361; E-375 and R-389."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 379..381; /note="RRC->AAA: Disrupts interaction with TCF12, no effect on oligomerization. Impairs AML1-MTG8/ETO activity in hematopoietic stem/progenitor cell self-renewal but no effect in inhibiting differentiation; when associated with 352-E-E-353."; /evidence="ECO:0000269|PubMed:23812588"; MUTAGEN 389; /note="L->R: Disrupts tetramerization, disrupts AML1-MTG8/ETO interaction with TCF12, decreases AML1-MTG8/ETO interaction with RUNX1T1, CBFA2T3 and CBFA2T2; when associated with E-345; R-357; R-360; E-361; E-375 and R-378."; /evidence="ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:23812588"; MUTAGEN 547; /note="H->A: Causes unfolding of the MYND-type zinc finger domain."; /evidence="ECO:0000269|PubMed:17560331
uniprot
proteins
protein_family
CBFA2T family
uniprot
proteins
pubmed
10688654
uniprot
proteins
pubmed
10973986
uniprot
proteins
pubmed
12242670
uniprot
proteins
pubmed
12559562
uniprot
proteins
pubmed
1423235
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15203199
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16616331
uniprot
proteins
pubmed
16803958
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17560331
uniprot
proteins
pubmed
17572682
uniprot
proteins
pubmed
19202074
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23251453
uniprot
proteins
pubmed
23812588
uniprot
proteins
pubmed
7541640
uniprot
proteins
pubmed
7919324
uniprot
proteins
pubmed
8137293
uniprot
proteins
pubmed
8334990
uniprot
proteins
pubmed
8353289
uniprot
proteins
pubmed
9661669
uniprot
proteins
sequence_length
604
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00440, ECO:0000269|PubMed:10973986}. Note=Colocalizes with ATN1 in discrete nuclear dots.
uniprot
proteins