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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

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (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).2 PublicationsBy similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri515 – 551MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • transcription corepressor activity Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000079102-MONOMER.

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
Proteomesi
  • UP000005640 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
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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi125K → A or D: Loss of interaction with TCF12. 1 Publication1
Mutagenesisi126L → A: Loss of interaction with TCF12. 1 Publication1
Mutagenesisi128R → D: Loss of interaction with TCF12. 1 Publication1
Mutagenesisi129F → A: Loss of interaction with TCF12. 2 Publications1
Mutagenesisi129F → K: Abolishes interaction with corepressor. 2 Publications1
Mutagenesisi136F → A: Abolishes interaction with corepressor. 1 Publication1
Mutagenesisi170Q → A: Abolishes interaction with corepressor. 1 Publication1
Mutagenesisi173T → Q: Abolishes interaction with corepressor. 1 Publication1
Mutagenesisi175F → A: Abolishes interaction with corepressor. 1 Publication1
Mutagenesisi177L → A: Abolishes interaction with corepressor. 1 Publication1
Mutagenesisi178R → A or D: Loss of interaction with TCF12. 1 Publication1
Mutagenesisi184F → A: Loss of interaction with TCF12. 1 Publication1
Mutagenesisi345L → 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. 2 Publications1
Mutagenesisi352 – 353EE → 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. 1 Publication2
Mutagenesisi357L → 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. 2 Publications1
Mutagenesisi360L → 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. 2 Publications1
Mutagenesisi361L → 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. 2 Publications1
Mutagenesisi375L → 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. 2 Publications1
Mutagenesisi378L → 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. 2 Publications1
Mutagenesisi379 – 381RRC → 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. 1 Publication3
Mutagenesisi389L → 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. 2 Publications1
Mutagenesisi547H → A: Causes unfolding of the MYND-type zinc finger domain. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei30 – 31Breakpoint for translocation to form AML1-MTG8 in AML-M21 Publication2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi862.
MalaCardsiRUNX1T1.
OpenTargetsiENSG00000079102.
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)DescriptionActionsGraphical viewLength
ChainiPRO_00002182991 – 604Protein CBFA2T1Add BLAST604

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei41PhosphoserineCombined sources1
Modified residuei417PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ06455.
PaxDbiQ06455.
PeptideAtlasiQ06455.
PRIDEiQ06455.

PTM databases

iPTMnetiQ06455.
PhosphoSitePlusiQ06455.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000079102.
ExpressionAtlasiQ06455. baseline and differential.
GenevisibleiQ06455. HS.

Organism-specific databases

HPAiHPA053290.
HPA070951.

Interactioni

Subunit structurei

Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2). Can interact with CBFA2T2 and CBFA2T3; heterotetramerization between members of the CBFA2T family is proposed. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1, NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression. AML1-MTG8/ETO fusion protein interacts with CBFB. AML1-MTG8/ETO is part of a stable transcription factor complex AETFC in leukemic cells; AETFC formation seems to be involved in recruitment of EP300. AML1-MTG8/ETO nervy homology region 2-mediated oligomerization is proposed to be homotypic, required for AML1-MTG8/ETO-mediated tranformation of primary hematopoietic cells and is required for AML1-MTG8/ETO interaction with TCF12.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
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. 61 interactors.
DIPiDIP-29401N.
IntActiQ06455. 55 interactors.
MINTiMINT-1439547.
STRINGi9606.ENSP00000402257.

Structurei

Secondary structure

1604
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi121 – 123Combined sources3
Helixi125 – 135Combined sources11
Helixi137 – 140Combined sources4
Helixi142 – 156Combined sources15
Helixi162 – 172Combined sources11
Beta strandi173 – 176Combined sources4
Beta strandi179 – 181Combined sources3
Helixi182 – 186Combined sources5
Helixi189 – 199Combined sources11
Helixi200 – 202Combined sources3
Helixi209 – 212Combined sources4
Helixi347 – 399Combined sources53
Helixi444 – 465Combined sources22
Beta strandi512 – 514Combined sources3
Beta strandi516 – 518Combined sources3
Beta strandi524 – 526Combined sources3
Turni527 – 529Combined sources3
Beta strandi533 – 536Combined sources4
Helixi537 – 542Combined sources6
Helixi544 – 547Combined sources4
Turni548 – 550Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06455.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini120 – 215TAFHPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni337 – 383Important for oligomerizationAdd BLAST47
Regioni337 – 383Nervy homology region 2 (NHR2)1 PublicationAdd BLAST47
Regioni443 – 492Nervy homology region 3 (NHR3)1 PublicationAdd BLAST50

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi57 – 60Poly-Pro4
Compositional biasi102 – 108Poly-Ser7
Compositional biasi290 – 297Poly-Pro8
Compositional biasi408 – 413Poly-Ser6

Domaini

The TAFH domain mediates interaction with transcription regulators.1 Publication
Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.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)DescriptionActionsGraphical viewLength
Zinc fingeri515 – 551MYND-typePROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IG1Z. Eukaryota.
ENOG410XR30. LUCA.
GeneTreeiENSGT00390000013479.
HOGENOMiHOG000049245.
HOVERGENiHBG000169.
InParanoidiQ06455.
KOiK10053.
PhylomeDBiQ06455.
TreeFamiTF106303.

Family and domain databases

InterProiIPR013290. CBFA2T1.
IPR013289. CBFA2T1/2/3.
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 (6)i

Sequence statusi: Complete.

This entry describes 6 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
Isoform MTG8B-2 (identifier: Q06455-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     427-427: D → G
     428-604: Missing.

Show »
Length:427
Mass (Da):48,146
Checksum:iA4482697E23DD852
GO
Isoform MTG8A-2 (identifier: Q06455-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MISVKRNTWRALSLVIGDCRKKGNFEYCQ → MP
     427-427: D → G
     428-604: Missing.

Show »
Length:400
Mass (Da):44,975
Checksum:i451BFA533E281CDE
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti455E → G in BAH12630 (PubMed:14702039).Curated1
Sequence conflicti506N → S in BAH12630 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036321386R → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036322395R → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036323471A → V in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0454421 – 37Missing in isoform 4. 2 PublicationsAdd BLAST37
Alternative sequenceiVSP_0445581 – 29MISVK…FEYCQ → MCHPDKAFTSDKLQCVFNEY KAAVWVPPRPRPLSRAPLPE in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0033271 – 29MISVK…FEYCQ → MP in isoform MTG8A and isoform MTG8A-2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_058512427D → G in isoform MTG8B-2 and isoform MTG8A-2. 1 Publication1
Alternative sequenceiVSP_058513428 – 604Missing in isoform MTG8B-2 and isoform MTG8A-2. 1 PublicationAdd BLAST177

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_006716676.3. [Q06455-4]
XP_011515653.1. XM_011517351.2. [Q06455-1]
XP_011515654.1. XM_011517352.2. [Q06455-2]
XP_011515655.1. XM_011517353.2. [Q06455-4]
XP_016869420.1. XM_017013931.1. [Q06455-1]
XP_016869421.1. XM_017013932.1. [Q06455-2]
XP_016869422.1. XM_017013933.1. [Q06455-2]
XP_016869423.1. XM_017013934.1. [Q06455-4]
XP_016869424.1. XM_017013935.1. [Q06455-4]
XP_016869425.1. XM_017013936.1. [Q06455-4]
XP_016869426.1. XM_017013937.1. [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.
UCSCiuc003yfc.3. human. [Q06455-1]

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_006716676.3. [Q06455-4]
XP_011515653.1. XM_011517351.2. [Q06455-1]
XP_011515654.1. XM_011517352.2. [Q06455-2]
XP_011515655.1. XM_011517353.2. [Q06455-4]
XP_016869420.1. XM_017013931.1. [Q06455-1]
XP_016869421.1. XM_017013932.1. [Q06455-2]
XP_016869422.1. XM_017013933.1. [Q06455-2]
XP_016869423.1. XM_017013934.1. [Q06455-4]
XP_016869424.1. XM_017013935.1. [Q06455-4]
XP_016869425.1. XM_017013936.1. [Q06455-4]
XP_016869426.1. XM_017013937.1. [Q06455-4]
UniGeneiHs.368431.
Hs.739194.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107310. 61 interactors.
DIPiDIP-29401N.
IntActiQ06455. 55 interactors.
MINTiMINT-1439547.
STRINGi9606.ENSP00000402257.

PTM databases

iPTMnetiQ06455.
PhosphoSitePlusiQ06455.

Polymorphism and mutation databases

BioMutaiRUNX1T1.
DMDMi2498595.

Proteomic databases

MaxQBiQ06455.
PaxDbiQ06455.
PeptideAtlasiQ06455.
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.
UCSCiuc003yfc.3. human. [Q06455-1]

Organism-specific databases

CTDi862.
DisGeNETi862.
GeneCardsiRUNX1T1.
HGNCiHGNC:1535. RUNX1T1.
HPAiHPA053290.
HPA070951.
MalaCardsiRUNX1T1.
MIMi133435. gene.
neXtProtiNX_Q06455.
OpenTargetsiENSG00000079102.
Orphaneti102724. 'Acute myeloid leukemia with t(8;21)(q22;q22) translocation'.
PharmGKBiPA26111.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG1Z. Eukaryota.
ENOG410XR30. LUCA.
GeneTreeiENSGT00390000013479.
HOGENOMiHOG000049245.
HOVERGENiHBG000169.
InParanoidiQ06455.
KOiK10053.
PhylomeDBiQ06455.
TreeFamiTF106303.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000079102-MONOMER.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000079102.
ExpressionAtlasiQ06455. baseline and differential.
GenevisibleiQ06455. HS.

Family and domain databases

InterProiIPR013290. CBFA2T1.
IPR013289. CBFA2T1/2/3.
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...

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: November 30, 2016
This is version 177 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

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 one 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.