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Protein

Protein CBFA2T1

Gene

RUNX1T1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription regulator that excerts its function by binding to histone deacetylases and transcription factors. Can repress transactivation mediated by TCF12.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei30 – 312Breakpoint for translocation to form AML1-MTG8 in AML-M2

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri515 – 55137MYND-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • sequence-specific DNA binding transcription factor activity Source: ProtInc
  • transcription corepressor activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CBFA2T1
Alternative name(s):
Cyclin-D-related protein
Eight twenty one protein
Protein ETO
Protein MTG8
Zinc finger MYND domain-containing protein 2
Gene namesi
Name:RUNX1T1
Synonyms:AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:1535. RUNX1T1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

  • Note: Colocalizes with ATN1 in discrete nuclear dots.

GO - Cellular componenti

  • cytoplasm Source: HPA
  • mitochondrion Source: HPA
  • nuclear matrix Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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)

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:114500

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi125 – 1251K → A or D: Loss of interaction with TCF12. 1 Publication
Mutagenesisi126 – 1261L → A: Loss of interaction with TCF12. 1 Publication
Mutagenesisi128 – 1281R → D: Loss of interaction with TCF12. 1 Publication
Mutagenesisi129 – 1291F → A: Loss of interaction with TCF12. 2 Publications
Mutagenesisi129 – 1291F → K: Abolishes interaction with corepressor. 2 Publications
Mutagenesisi136 – 1361F → A: Abolishes interaction with corepressor. 1 Publication
Mutagenesisi170 – 1701Q → A: Abolishes interaction with corepressor. 1 Publication
Mutagenesisi173 – 1731T → Q: Abolishes interaction with corepressor. 1 Publication
Mutagenesisi175 – 1751F → A: Abolishes interaction with corepressor. 1 Publication
Mutagenesisi177 – 1771L → A: Abolishes interaction with corepressor. 1 Publication
Mutagenesisi178 – 1781R → A or D: Loss of interaction with TCF12. 1 Publication
Mutagenesisi184 – 1841F → A: Loss of interaction with TCF12. 1 Publication
Mutagenesisi547 – 5471H → A: Causes unfolding of the MYND-type zinc finger domain. 1 Publication

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

MIMi114500. phenotype.
Orphaneti102724. 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation'.
PharmGKBiPA26111.

Polymorphism and mutation databases

BioMutaiRUNX1T1.
DMDMi2498595.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 604604Protein CBFA2T1PRO_0000218299Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei41 – 411Phosphoserine1 Publication
Modified residuei417 – 4171Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ06455.
PRIDEiQ06455.

PTM databases

PhosphoSiteiQ06455.

Expressioni

Tissue specificityi

Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.

Gene expression databases

BgeeiQ06455.
ExpressionAtlasiQ06455. baseline and differential.
GenevisibleiQ06455. HS.

Interactioni

Subunit structurei

Homotetramer. Heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1 and NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-743342,EBI-743342
ABI3Q9P2A43EBI-10224192,EBI-742038
C19orf57Q0VDD73EBI-10224192,EBI-741210
CCDC36Q8IYA83EBI-10224192,EBI-8638439
CPSF7Q8N6843EBI-10224192,EBI-746909
CREB3L1Q96BA83EBI-10224192,EBI-6942903
EFHC2Q5JST63EBI-10224192,EBI-2349927
EPS8Q129293EBI-10224192,EBI-375576
GSE1Q146873EBI-10224192,EBI-372619
HOMER3B2RA103EBI-10224192,EBI-10175777
LPXNO607113EBI-10224192,EBI-744222
LZTS2Q9BRK43EBI-10224192,EBI-741037
MEOX2A4D1273EBI-10224192,EBI-10172134
MID2Q9UJV3-23EBI-10224192,EBI-10172526
NECAB2H3BTW23EBI-10224192,EBI-10172876
PRDM14Q9GZV83EBI-10224192,EBI-3957793
SP1P080472EBI-743342,EBI-298336
SPERTQ8NA613EBI-10224192,EBI-741724
SPRY2O435973EBI-10224192,EBI-742487
STX11O755583EBI-10224192,EBI-714135
TRIM42A1L4B63EBI-10224192,EBI-10172216
ZMYM4Q5VZL53EBI-10224192,EBI-2514659

Protein-protein interaction databases

BioGridi107310. 58 interactions.
DIPiDIP-29401N.
IntActiQ06455. 31 interactions.
MINTiMINT-1439547.

Structurei

Secondary structure

1
604
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi121 – 1233Combined sources
Helixi125 – 13511Combined sources
Helixi137 – 1404Combined sources
Helixi142 – 15615Combined sources
Helixi162 – 17211Combined sources
Beta strandi173 – 1764Combined sources
Beta strandi179 – 1813Combined sources
Helixi182 – 1865Combined sources
Helixi189 – 19911Combined sources
Helixi200 – 2023Combined sources
Helixi209 – 2124Combined sources
Helixi347 – 39953Combined sources
Helixi444 – 46522Combined sources
Beta strandi512 – 5143Combined sources
Beta strandi516 – 5183Combined sources
Beta strandi524 – 5263Combined sources
Turni527 – 5293Combined sources
Beta strandi533 – 5364Combined sources
Helixi537 – 5426Combined sources
Helixi544 – 5474Combined sources
Turni548 – 5503Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WQ6X-ray2.00A/B335-403[»]
2DJ8NMR-A505-551[»]
2H7BNMR-A120-222[»]
2KNHNMR-A119-216[»]
2KYGNMR-C437-467[»]
2OD1NMR-A510-559[»]
2ODDNMR-A510-559[»]
2PP4NMR-A119-225[»]
4JOLX-ray2.91A/B/C/D338-400[»]
ProteinModelPortaliQ06455.
SMRiQ06455. Positions 119-216, 341-400, 437-467, 510-559.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06455.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini120 – 21596TAFHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni337 – 38347Important for oligomerizationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi57 – 604Poly-Pro
Compositional biasi102 – 1087Poly-Ser
Compositional biasi290 – 2978Poly-Pro
Compositional biasi408 – 4136Poly-Ser

Domaini

The TAFH domain mediates interaction with transcription regulators.1 Publication

Sequence similaritiesi

Belongs to the CBFA2T family.Curated
Contains 1 MYND-type zinc finger.PROSITE-ProRule annotation
Contains 1 TAFH (NHR1) domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri515 – 55137MYND-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG79810.
GeneTreeiENSGT00390000013479.
HOGENOMiHOG000049245.
HOVERGENiHBG000169.
InParanoidiQ06455.
KOiK10053.
OMAiPIGMHAG.
OrthoDBiEOG70W3D2.
PhylomeDBiQ06455.
TreeFamiTF106303.

Family and domain databases

InterProiIPR013289. ETO.
IPR013290. MTG8.
IPR014896. NHR2.
IPR003894. TAFH_NHR1.
IPR002893. Znf_MYND.
[Graphical view]
PANTHERiPTHR10379:SF5. PTHR10379:SF5. 1 hit.
PfamiPF08788. NHR2. 1 hit.
PF07531. TAFH. 1 hit.
PF01753. zf-MYND. 1 hit.
[Graphical view]
PRINTSiPR01875. ETOFAMILY.
PR01876. MTG8PROTEIN.
SMARTiSM00549. TAFH. 1 hit.
[Graphical view]
PROSITEiPS51119. TAFH. 1 hit.
PS01360. ZF_MYND_1. 1 hit.
PS50865. ZF_MYND_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform MTG8B (identifier: Q06455-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MISVKRNTWR ALSLVIGDCR KKGNFEYCQD RTEKHSTMPD SPVDVKTQSR
60 70 80 90 100
LTPPTMPPPP TTQGAPRTSS FTPTTLTNGT SHSPTALNGA PSPPNGFSNG
110 120 130 140 150
PSSSSSSSLA NQQLPPACGA RQLSKLKRFL TTLQQFGNDI SPEIGERVRT
160 170 180 190 200
LVLGLVNSTL TIEEFHSKLQ EATNFPLRPF VIPFLKANLP LLQRELLHCA
210 220 230 240 250
RLAKQNPAQY LAQHEQLLLD ASTTSPVDSS ELLLDVNENG KRRTPDRTKE
260 270 280 290 300
NGFDREPLHS EHPSKRPCTI SPGQRYSPNN GLSYQPNGLP HPTPPPPQHY
310 320 330 340 350
RLDDMAIAHH YRDSYRHPSH RDLRDRNRPM GLHGTRQEEM IDHRLTDREW
360 370 380 390 400
AEEWKHLDHL LNCIMDMVEK TRRSLTVLRR CQEADREELN YWIRRYSDAE
410 420 430 440 450
DLKKGGGSSS SHSRQQSPVN PDPVALDAHR EFLHRPASGY VPEEIWKKAE
460 470 480 490 500
EAVNEVKRQA MTELQKAVSE AERKAHDMIT TERAKMERTV AEAKRQAAED
510 520 530 540 550
ALAVINQQED SSESCWNCGR KASETCSGCN TARYCGSFCQ HKDWEKHHHI
560 570 580 590 600
CGQTLQAQQQ GDTPAVSSSV TPNSGAGSPM DTPPAATPRS TTPGTPSTIE

TTPR
Length:604
Mass (Da):67,566
Last modified:November 1, 1997 - v2
Checksum:iC3D2452F96E65679
GO
Isoform MTG8A (identifier: Q06455-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MISVKRNTWRALSLVIGDCRKKGNFEYCQ → MP

Show »
Length:577
Mass (Da):64,396
Checksum:i70E84F0120C11C3B
GO
Isoform 3 (identifier: Q06455-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MISVKRNTWRALSLVIGDCRKKGNFEYCQ → MCHPDKAFTSDKLQCVFNEYKAAVWVPPRPRPLSRAPLPE

Show »
Length:615
Mass (Da):68,746
Checksum:i4FB11B0FAEC56B07
GO
Isoform 4 (identifier: Q06455-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: Missing.

Show »
Length:567
Mass (Da):63,212
Checksum:i44AADF2EC7032050
GO

Sequence cautioni

The sequence AAH05850.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA03247.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti427 – 4271D → G in AAC26143 (PubMed:9661669).Curated
Sequence conflicti455 – 4551E → G in BAH12630 (PubMed:14702039).Curated
Sequence conflicti506 – 5061N → S in BAH12630 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti386 – 3861R → W in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036321
Natural varianti395 – 3951R → W in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036322
Natural varianti471 – 4711A → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036323

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3737Missing in isoform 4. 2 PublicationsVSP_045442Add
BLAST
Alternative sequencei1 – 2929MISVK…FEYCQ → MCHPDKAFTSDKLQCVFNEY KAAVWVPPRPRPLSRAPLPE in isoform 3. 1 PublicationVSP_044558Add
BLAST
Alternative sequencei1 – 2929MISVK…FEYCQ → MP in isoform MTG8A. 1 PublicationVSP_003327Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D14821 mRNA. Translation: BAA03558.1.
D13979 mRNA. Translation: BAA03089.1. Sequence problems.
D14289 mRNA. Translation: BAA03247.1. Different initiation.
AF018282
, AF018271, AF018272, AF018273, AF018274, AF018275, AF018276, AF018277, AF018278, AF018279, AF018281 Genomic DNA. Translation: AAC28932.1.
AF018282
, AF018270, AF018272, AF018273, AF018274, AF018275, AF018276, AF018277, AF018278, AF018279, AF018281 Genomic DNA. Translation: AAC28931.1.
AF018283 mRNA. Translation: AAC26143.1.
AK297616 mRNA. Translation: BAH12630.1.
BT009871 mRNA. Translation: AAP88873.1.
CR456792 mRNA. Translation: CAG33073.1.
AC103680 Genomic DNA. No translation available.
AC104339 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91685.1.
BC005850 mRNA. Translation: AAH05850.1. Different initiation.
BC067078 mRNA. Translation: AAH67078.2.
AF181450 Genomic DNA. No translation available.
D43638 mRNA. Translation: BAA07755.1.
X79990 mRNA. Translation: CAA56311.1.
S74096 Genomic DNA. Translation: AAB32126.1.
S74092 Genomic DNA. No translation available.
S78158 mRNA. Translation: AAB34819.2. Sequence problems.
S78159 mRNA. Translation: AAB34820.2. Sequence problems.
D14822 mRNA. Translation: BAA03559.1. Sequence problems.
D14823 mRNA. Translation: BAA03560.1. Sequence problems.
S50186 Genomic DNA. No translation available.
CCDSiCCDS47891.1. [Q06455-2]
CCDS56544.1. [Q06455-3]
CCDS6256.1. [Q06455-1]
CCDS6257.1. [Q06455-4]
PIRiA57784.
C57784.
RefSeqiNP_001185554.1. NM_001198625.1. [Q06455-2]
NP_001185555.1. NM_001198626.1. [Q06455-1]
NP_001185556.1. NM_001198627.1. [Q06455-1]
NP_001185557.1. NM_001198628.1. [Q06455-1]
NP_001185558.1. NM_001198629.1. [Q06455-1]
NP_001185559.1. NM_001198630.1. [Q06455-1]
NP_001185560.1. NM_001198631.1. [Q06455-1]
NP_001185561.1. NM_001198632.1. [Q06455-2]
NP_001185562.1. NM_001198633.1.
NP_001185563.1. NM_001198634.1. [Q06455-3]
NP_001185608.1. NM_001198679.1.
NP_004340.1. NM_004349.3. [Q06455-2]
NP_783552.1. NM_175634.2. [Q06455-1]
NP_783553.1. NM_175635.2. [Q06455-4]
NP_783554.1. NM_175636.2. [Q06455-4]
XP_006716739.1. XM_006716676.2. [Q06455-4]
UniGeneiHs.368431.
Hs.739194.

Genome annotation databases

EnsembliENST00000265814; ENSP00000265814; ENSG00000079102. [Q06455-1]
ENST00000360348; ENSP00000353504; ENSG00000079102. [Q06455-4]
ENST00000396218; ENSP00000379520; ENSG00000079102. [Q06455-2]
ENST00000422361; ENSP00000390137; ENSG00000079102. [Q06455-4]
ENST00000518844; ENSP00000430728; ENSG00000079102. [Q06455-2]
ENST00000520724; ENSP00000428742; ENSG00000079102. [Q06455-3]
ENST00000523629; ENSP00000428543; ENSG00000079102. [Q06455-1]
ENST00000613302; ENSP00000481799; ENSG00000079102. [Q06455-1]
ENST00000613886; ENSP00000478331; ENSG00000079102. [Q06455-2]
ENST00000614812; ENSP00000481315; ENSG00000079102. [Q06455-1]
ENST00000617740; ENSP00000481112; ENSG00000079102. [Q06455-1]
GeneIDi862.
KEGGihsa:862.
UCSCiuc003yfb.2. human. [Q06455-1]
uc003yfc.2. human. [Q06455-2]
uc011lgi.2. human.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D14821 mRNA. Translation: BAA03558.1.
D13979 mRNA. Translation: BAA03089.1. Sequence problems.
D14289 mRNA. Translation: BAA03247.1. Different initiation.
AF018282
, AF018271, AF018272, AF018273, AF018274, AF018275, AF018276, AF018277, AF018278, AF018279, AF018281 Genomic DNA. Translation: AAC28932.1.
AF018282
, AF018270, AF018272, AF018273, AF018274, AF018275, AF018276, AF018277, AF018278, AF018279, AF018281 Genomic DNA. Translation: AAC28931.1.
AF018283 mRNA. Translation: AAC26143.1.
AK297616 mRNA. Translation: BAH12630.1.
BT009871 mRNA. Translation: AAP88873.1.
CR456792 mRNA. Translation: CAG33073.1.
AC103680 Genomic DNA. No translation available.
AC104339 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91685.1.
BC005850 mRNA. Translation: AAH05850.1. Different initiation.
BC067078 mRNA. Translation: AAH67078.2.
AF181450 Genomic DNA. No translation available.
D43638 mRNA. Translation: BAA07755.1.
X79990 mRNA. Translation: CAA56311.1.
S74096 Genomic DNA. Translation: AAB32126.1.
S74092 Genomic DNA. No translation available.
S78158 mRNA. Translation: AAB34819.2. Sequence problems.
S78159 mRNA. Translation: AAB34820.2. Sequence problems.
D14822 mRNA. Translation: BAA03559.1. Sequence problems.
D14823 mRNA. Translation: BAA03560.1. Sequence problems.
S50186 Genomic DNA. No translation available.
CCDSiCCDS47891.1. [Q06455-2]
CCDS56544.1. [Q06455-3]
CCDS6256.1. [Q06455-1]
CCDS6257.1. [Q06455-4]
PIRiA57784.
C57784.
RefSeqiNP_001185554.1. NM_001198625.1. [Q06455-2]
NP_001185555.1. NM_001198626.1. [Q06455-1]
NP_001185556.1. NM_001198627.1. [Q06455-1]
NP_001185557.1. NM_001198628.1. [Q06455-1]
NP_001185558.1. NM_001198629.1. [Q06455-1]
NP_001185559.1. NM_001198630.1. [Q06455-1]
NP_001185560.1. NM_001198631.1. [Q06455-1]
NP_001185561.1. NM_001198632.1. [Q06455-2]
NP_001185562.1. NM_001198633.1.
NP_001185563.1. NM_001198634.1. [Q06455-3]
NP_001185608.1. NM_001198679.1.
NP_004340.1. NM_004349.3. [Q06455-2]
NP_783552.1. NM_175634.2. [Q06455-1]
NP_783553.1. NM_175635.2. [Q06455-4]
NP_783554.1. NM_175636.2. [Q06455-4]
XP_006716739.1. XM_006716676.2. [Q06455-4]
UniGeneiHs.368431.
Hs.739194.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WQ6X-ray2.00A/B335-403[»]
2DJ8NMR-A505-551[»]
2H7BNMR-A120-222[»]
2KNHNMR-A119-216[»]
2KYGNMR-C437-467[»]
2OD1NMR-A510-559[»]
2ODDNMR-A510-559[»]
2PP4NMR-A119-225[»]
4JOLX-ray2.91A/B/C/D338-400[»]
ProteinModelPortaliQ06455.
SMRiQ06455. Positions 119-216, 341-400, 437-467, 510-559.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107310. 58 interactions.
DIPiDIP-29401N.
IntActiQ06455. 31 interactions.
MINTiMINT-1439547.

PTM databases

PhosphoSiteiQ06455.

Polymorphism and mutation databases

BioMutaiRUNX1T1.
DMDMi2498595.

Proteomic databases

PaxDbiQ06455.
PRIDEiQ06455.

Protocols and materials databases

DNASUi862.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265814; ENSP00000265814; ENSG00000079102. [Q06455-1]
ENST00000360348; ENSP00000353504; ENSG00000079102. [Q06455-4]
ENST00000396218; ENSP00000379520; ENSG00000079102. [Q06455-2]
ENST00000422361; ENSP00000390137; ENSG00000079102. [Q06455-4]
ENST00000518844; ENSP00000430728; ENSG00000079102. [Q06455-2]
ENST00000520724; ENSP00000428742; ENSG00000079102. [Q06455-3]
ENST00000523629; ENSP00000428543; ENSG00000079102. [Q06455-1]
ENST00000613302; ENSP00000481799; ENSG00000079102. [Q06455-1]
ENST00000613886; ENSP00000478331; ENSG00000079102. [Q06455-2]
ENST00000614812; ENSP00000481315; ENSG00000079102. [Q06455-1]
ENST00000617740; ENSP00000481112; ENSG00000079102. [Q06455-1]
GeneIDi862.
KEGGihsa:862.
UCSCiuc003yfb.2. human. [Q06455-1]
uc003yfc.2. human. [Q06455-2]
uc011lgi.2. human.

Organism-specific databases

CTDi862.
GeneCardsiGC08M092971.
HGNCiHGNC:1535. RUNX1T1.
MIMi114500. phenotype.
133435. gene.
neXtProtiNX_Q06455.
Orphaneti102724. 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation'.
PharmGKBiPA26111.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG79810.
GeneTreeiENSGT00390000013479.
HOGENOMiHOG000049245.
HOVERGENiHBG000169.
InParanoidiQ06455.
KOiK10053.
OMAiPIGMHAG.
OrthoDBiEOG70W3D2.
PhylomeDBiQ06455.
TreeFamiTF106303.

Miscellaneous databases

ChiTaRSiRUNX1T1. human.
EvolutionaryTraceiQ06455.
GeneWikiiRUNX1T1.
GenomeRNAii862.
NextBioi3586.
PROiQ06455.
SOURCEiSearch...

Gene expression databases

BgeeiQ06455.
ExpressionAtlasiQ06455. baseline and differential.
GenevisibleiQ06455. HS.

Family and domain databases

InterProiIPR013289. ETO.
IPR013290. MTG8.
IPR014896. NHR2.
IPR003894. TAFH_NHR1.
IPR002893. Znf_MYND.
[Graphical view]
PANTHERiPTHR10379:SF5. PTHR10379:SF5. 1 hit.
PfamiPF08788. NHR2. 1 hit.
PF07531. TAFH. 1 hit.
PF01753. zf-MYND. 1 hit.
[Graphical view]
PRINTSiPR01875. ETOFAMILY.
PR01876. MTG8PROTEIN.
SMARTiSM00549. TAFH. 1 hit.
[Graphical view]
PROSITEiPS51119. TAFH. 1 hit.
PS01360. ZF_MYND_1. 1 hit.
PS50865. ZF_MYND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript."
    Miyoshi H., Kozu T., Shimizu K., Enomoto K., Maseki N., Kaneko Y., Kamada N., Ohki M.
    EMBO J. 12:2715-2721(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM MTG8B), VARIANT AML1-MTG8/ETO FUSION IN AML-M2.
    Tissue: Fetal brain.
  2. "Structure and expression of the human MTG8/ETO gene."
    Wolford J.K., Prochazka M.
    Gene 212:103-109(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM MTG8B).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM MTG8A).
  6. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Muscle.
  9. "The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved putative transcription factor."
    Erickson P.F., Robinson M., Owens G., Drabkin H.A.
    Cancer Res. 54:1782-1786(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 31-604.
  10. "Alternative, out-of-frame runt/MTG8 transcripts are encoded by the derivative (8) chromosome in the t(8;21) of acute myeloid leukemia M2."
    Tighe J.E., Calabi F.
    Blood 84:2115-2121(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 334-432, VARIANT AML1-MTG8/ETO FUSION.
  11. "Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription."
    Wood J.D., Nucifora F.C. Jr., Duan K., Zhang C., Wang J., Kim Y., Schilling G., Sacchi N., Liu J.M., Ross C.A.
    J. Cell Biol. 150:939-948(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ATN1, SUBCELLULAR LOCATION, FUNCTION.
  12. "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies."
    Hoogeveen A.T., Rossetti S., Stoyanova V., Schonkeren J., Fenaroli A., Schiaffonati L., van Unen L., Sacchi N.
    Oncogene 21:6703-6712(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CBFA2T3.
  13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41 AND SER-417, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity."
    Liu Y., Cheney M.D., Gaudet J.J., Chruszcz M., Lukasik S.M., Sugiyama D., Lary J., Cole J., Dauter Z., Minor W., Speck N.A., Bushweller J.H.
    Cancer Cell 9:249-260(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 335-403, SUBUNIT, INTERACTION WITH HDAC1; HDAC2; HDAC3; TCF12; NCOR1; NCOR2; SIN3A; CBFA2T2 AND CBFA2T3.
  16. "The acute myeloid leukemia fusion protein AML1-ETO targets E proteins via a paired amphipathic helix-like TBP-associated factor homology domain."
    Plevin M.J., Zhang J., Guo C., Roeder R.G., Ikura M.
    Proc. Natl. Acad. Sci. U.S.A. 103:10242-10247(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 120-222, INTERACTION WITH TCF12, FUNCTION, MUTAGENESIS OF LYS-125; LEU-126; ARG-128; PHE-129; ARG-178 AND PHE-184.
  17. "Structural basis for recognition of SMRT/N-CoR by the MYND domain and its contribution to AML1/ETO's activity."
    Liu Y., Chen W., Gaudet J., Cheney M.D., Roudaia L., Cierpicki T., Klet R.C., Hartman K., Laue T.M., Speck N.A., Bushweller J.H.
    Cancer Cell 11:483-497(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 510-559 IN COMPLEX WITH ZINC IONS AND NCOR2, MUTAGENESIS OF HIS-547, INTERACTION WITH NCOR1 AND NCOR2.
  18. "A TAF4-homology domain from the corepressor ETO is a docking platform for positive and negative regulators of transcription."
    Wei Y., Liu S., Lausen J., Woodrell C., Cho S., Biris N., Kobayashi N., Wei Y., Yokoyama S., Werner M.H.
    Nat. Struct. Mol. Biol. 14:653-661(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 119-225, INTERACTION WITH NCOR1 AND TCF12, MUTAGENESIS OF PHE-129; PHE-136; GLN-170; THR-173; PHE-175 AND LEU-177, DOMAIN.
  19. "Solution structure of ZF-MYND domain of protein CBFA2TI (protein MTG8)."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 505-551.
  20. "Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells."
    Era T., Asou N., Kunisada T., Yamasaki H., Asou H., Kamada N., Nishikawa S., Yamaguchi K., Takatsuki K.
    Genes Chromosomes Cancer 13:25-33(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AML1-MTG8/ETO FUSION IN AML-M2.
  21. "Junctions of the AML1/MTG8(ETO) fusion are constant in t(8;21) acute myeloid leukemia detected by reverse transcription polymerase chain reaction."
    Kozu T., Miyoshi H., Shimizu K., Maseki N., Kaneko Y., Asou H., Kamada N., Ohki M.
    Blood 82:1270-1276(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AML1-MTG8/ETO FUSION IN AML-M2.
  22. "Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells."
    Nisson P.E., Watkins P.C., Sacchi N.
    Cancer Genet. Cytogenet. 63:81-88(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AML1-MTG8/ETO FUSION IN AML-M2.
  23. Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-386; TRP-395 AND VAL-471.

Entry informationi

Entry nameiMTG8_HUMAN
AccessioniPrimary (citable) accession number: Q06455
Secondary accession number(s): B7Z4P4
, E7EPN4, O14784, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: June 24, 2015
This is version 162 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.