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UniProtKB/Swiss-Prot entry O43439


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name MTG8R_HUMAN
Primary accession number O43439
Secondary accession numbers Q5TGE4 Q5TGE7 Q8IWF3 Q96B06 Q96L00 Q9H436 Q9UJP8 Q9UJP9 Q9UP24
Integrated into Swiss-Prot on August 29, 2003
Sequence was last modified on June 1, 1998 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 77)
Name and origin of the protein
Protein name Protein CBFA2T2
Synonyms MTG8-related protein 1
MTG8-like protein
Myeloid translocation-related protein 1
ETO homologous on chromosome 20
p85
Gene name
Name: CBFA2T2
Synonyms: EHT, MTGR1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
PubMed=9787195 [NCBI, ExPASy, EBI, Israel, Japan]
Fracchiolla N.S., Colombo G., Finelli P., Maiolo A.T., Neri A.;
"EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.";
Blood 92:3481-3484(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, PHOSPHORYLATION, AND INTERACTION WITH MTG8 AND AML1-MTG8.
TISSUE=Leukemia;
PubMed=9447981 [NCBI, ExPASy, EBI, Israel, Japan]
Kitabayashi I., Ida K., Morohoshi F., Yokoyama A., Mitsuhashi N., Shimizu K., Nomura N., Hayashi Y., Ohki M.;
"The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1.";
Mol. Cell. Biol. 18:846-858(1998).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), ALTERNATIVE SPLICING, AND TISSUE SPECIFICITY.
TISSUE=Leukemia;
DOI=10.1016/S0378-1119(99)00481-3; PubMed=10675041 [NCBI, ExPASy, EBI, Israel, Japan]
Morohoshi F., Mitani S., Mitsuhashi N., Kitabayashi I., Takahashi E., Suzuki M., Munakata N., Ohki M.;
"Structure and expression pattern of a human MTG8/ETO family gene, MTGR1.";
Gene 241:287-295(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
TISSUE=Eye, Ovary, and Prostate;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 22-604, ALTERNATIVE SPLICING, AND TISSUE SPECIFICITY.
TISSUE=Fetal brain, and Retina;
DOI=10.1006/geno.1998.5429; PubMed=9790752 [NCBI, ExPASy, EBI, Israel, Japan]
Calabi F., Cilli V.;
"CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family.";
Genomics 52:332-341(1998).
[7]
INTERACTION WITH CBFA2T3.
DOI=10.1038/sj.onc.1205882; PubMed=12242670 [NCBI, ExPASy, EBI, Israel, Japan]
Hoogeveen A.T., Rossetti S., Stoyanova V., Schonkeren J., Fenaroli A., Schiaffonati L., van Unen L., Sacchi N.;
"The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies.";
Oncogene 21:6703-6712(2002).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
Comments
  • FUNCTION: May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region.
  • SUBUNIT: Homooligomer and heterooligomer with MTG8. Forms a heterooligomer with the RUNX1/AML1-CBFA2T1/MTG8 chimeric protein, via an interaction with MTG8. Heterodimer with CBFA2T3.
  • INTERACTION:
    Q9Y2D9:ZNF652; NbExp=1; IntAct=EBI-748628, EBI-1190229;
  • SUBCELLULAR LOCATION: Nucleus (Probable).
  • ALTERNATIVE PRODUCTS: 4 named isoforms [FASTA] produced by alternative splicing.
    Name1
    SynonymsMTGR1b
    Isoform IDO43439-1
    This is the isoform sequence displayed in this entry.
    Name2
    SynonymsMTGR1a, EHT
    Isoform IDO43439-2
    Features which should be applied to build the isoform sequence: VSP_008121.
    Name3
    Isoform IDO43439-3
    Features which should be applied to build the isoform sequence: VSP_008121, VSP_008123, VSP_008124.
    Name4
    Isoform IDO43439-4
    Features which should be applied to build the isoform sequence: VSP_008122.
  • TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus.
  • PTM: Phosphorylated.
  • DISEASE: Deletion of the CBFA2T2 gene has been described in 10%, 5% and 3% of cases in polycythemia vera (PV), myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), respectively.
  • SIMILARITY: Belongs to the CBFA2T family.
  • SIMILARITY: Contains 1 MYND-type zinc finger.
  • SIMILARITY: Contains 1 TAFH (NHR1) domain.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF039200; AAC17499.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF068266; AAC19378.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF013970; AAC39841.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF069747; AAD02825.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076461; AAD41221.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076452; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076453; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076454; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076455; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076456; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076457; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076458; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076459; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF076460; AAD41221.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL121906; CAI22125.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL034421; CAI22125.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC015066; AAH15066.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC016298; AAH16298.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC040344; AAH40344.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF052210; AAC64699.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00179452; -.
IPI00180725; -.
IPI00332991; -.
IPI00339253; -.
RefSeq NP_001028171.1; -.
NP_001034798.1; -.
NP_005084.1; -.
UniGene Hs.153934
3D structure databases
SMR O43439; 113-215, 336-392, 497-543.
ModBase O43439.
Protein-protein interaction databases
IntAct O43439; 5.
PTM databases
PhosphoSite O43439; -.
Organism-specific databases
GeneCards GC20P031476; -.
H-InvDB HIX0027659; -.
HGNC HGNC:1536; CBFA2T2.
GenAtlas CBFA2T2.
MIM 603672; gene. [NCBI / EBI]
PharmGKB PA26112; -.
Gene expression databases
ArrayExpress O43439; -.
Bgee O43439; -.
GermOnline ENSG00000078699; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0003700; Molecular function: transcription factor activity (inferred from electronic annotation from InterPro).
GO:0008270; Molecular function: zinc ion binding (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR013289; ETO.
IPR013291; MTGR1.
IPR014896; NHR2.
IPR003894; TAFH_NHR1.
IPR002893; Znf_MYND.
Graphical view of domain structure.
Pfam PF08788; NHR2; 1.
PF07531; TAFH; 1.
PF01753; zf-MYND; 1.
Pfam graphical view of domain structure.
PRINTS PR01875; ETOFAMILY.
PR01877; MTGR1PROTEIN.
SMART SM00549; TAFH; 1.
SMART graphical view of domain structure.
PROSITE PS51119; TAFH; 1.
PS01360; ZF_MYND_1; 1.
PS50865; ZF_MYND_2; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O43439; -.
Genome annotation databases
Ensembl ENSG00000078699; Homo sapiens. [Contig view]
GeneID 9139; -.
KEGG hsa:9139; -.
Phylogenomic databases
HOVERGEN O43439; -.
OMA O43439; HEYFSET.
Other
NextBio 34271; -.
SOURCE CBFA2T2; Homo sapiens.
ProtoNet O43439.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Coiled coil; Metal-binding; Nucleus; Phosphoprotein; Zinc; Zinc-finger.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   604  604     Protein CBFA2T2. PRO_0000218301
DOMAIN   113   208  96     TAFH. 
ZN_FING   517   553  37     MYND-type. 
COILED   451   491  41     Potential. 
COMPBIAS   33    97  65     Pro-rich. 
MOD_RES   33    33        Phosphoserine. 
VAR_SEQ   1    29        Missing (in isoform 2 and isoform 3). VSP_008121
VAR_SEQ   1    20        MAKESGISLKEIQVLARQWK -> MGFHHVGQARLELLTSGDLPALASQRAGIT (in isoform 4). VSP_008122
VAR_SEQ   240   292        RREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMN PGGQFHPTPPPLQ -> SCIIHLKSMGVASRHEYFSGTLQMPAHPVRNSTLENLWVD CSRSLRSTVLPFP (in isoform 3). VSP_008123
VAR_SEQ   293   604        Missing (in isoform 3). VSP_008124
CONFLICT   31    31        P -> H (in Ref. 5; AAH15066). 
Sequence information
Length: 604 AA [This is the length of the unprocessed precursor] Molecular weight: 67133 Da [This is the MW of the unprocessed precursor] CRC64: 1E55618844908169 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAKESGISLK EIQVLARQWK VGPEKRVPAM PGSPVEVKIQ SRSSPPTMPP LPPINPGGPR 

        70         80         90        100        110        120 
PVSFTPTALS NGINHSPPTL NGAPSPPQRF SNGPASSTSS ALTNQQLPAT CGARQLSKLK 

       130        140        150        160        170        180 
RFLTTLQQFG NDISPEIGEK VRTLVLALVN STVTIEEFHC KLQEATNFPL RPFVIPFLKA 

       190        200        210        220        230        240 
NLPLLQRELL HCARAAKQTP SQYLAQHEHL LLNTSIASPA DSSELLMEVH GNGKRPSPER 

       250        260        270        280        290        300 
REENSFDRDT IAPEPPAKRV CTISPAPRHS PALTVPLMNP GGQFHPTPPP LQHYTLEDIA 

       310        320        330        340        350        360 
TSHLYREPNK MLEHREVRDR HHSLGLNGGY QDELVDHRLT EREWADEWKH LDHALNCIME 

       370        380        390        400        410        420 
MVEKTRRSMA VLRRCQESDR EELNYWKRRY NENTELRKTG TELVSRQHSP GSADSLSNDS 

       430        440        450        460        470        480 
QREFNSRPGT GYVPVEFWKK TEEAVNKVKI QAMSEVQKAV AEAEQKAFEV IATERARMEQ 

       490        500        510        520        530        540 
TIADVKRQAA EDAFLVINEQ EESTENCWNC GRKASETCSG CNIARYCGSF CQHKDWERHH 

       550        560        570        580        590        600 
RLCGQNLHGQ SPHGQGRPLL PVGRGSSARS ADCSVPSPAL DKTSATTSRS STPASVTAID 


TNGL 

O43439 in FASTA format

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