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O43439 (MTG8R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein CBFA2T2
Alternative name(s):
ETO homologous on chromosome 20
MTG8-like protein
MTG8-related protein 1
Myeloid translocation-related protein 1
p85
Gene names
Name:CBFA2T2
Synonyms:EHT, MTGR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length604 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (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 structure

Homooligomer and heterooligomer with MTG8. Forms a heterooligomer with the RUNX1/AML1-CBFA2T1/MTG8 chimeric protein, via an interaction with MTG8. Heterodimer with CBFA2T3.

Subcellular location

Nucleus Probable.

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. Ref.1 Ref.2 Ref.3 Ref.8

Sequence similarities

Belongs to the CBFA2T family.

Contains 1 MYND-type zinc finger.

Contains 1 TAFH (NHR1) domain.

Sequence caution

The sequence AAC19378.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AK307887 differs from that shown. Reason: Frameshift at position 438.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MDFIQ997504EBI-748628,EBI-724076

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43439-1)

Also known as: MTGR1b;

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.
Isoform 2 (identifier: O43439-2)

Also known as: MTGR1a; EHT;

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
Isoform 3 (identifier: O43439-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     240-292: RREENSFDRD...QFHPTPPPLQ → SCIIHLKSMG...SLRSTVLPFP
     293-604: Missing.
Isoform 4 (identifier: O43439-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MAKESGISLKEIQVLARQWK → MGFHHVGQARLELLTSGDLPALASQRAGIT
Isoform 5 (identifier: O43439-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAKESGISLKEIQVLARQWKV → MVGVPGAAAFQL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 604604Protein CBFA2T2
PRO_0000218301

Regions

Domain113 – 20896TAFH
Zinc finger517 – 55337MYND-type
Coiled coil451 – 49141 Potential
Compositional bias33 – 9765Pro-rich

Amino acid modifications

Modified residue4091Phosphoserine Ref.12

Natural variations

Alternative sequence1 – 2929Missing in isoform 2 and isoform 3.
VSP_008121
Alternative sequence1 – 2121MAKES…RQWKV → MVGVPGAAAFQL in isoform 5.
VSP_047410
Alternative sequence1 – 2020MAKES…ARQWK → MGFHHVGQARLELLTSGDLP ALASQRAGIT in isoform 4.
VSP_008122
Alternative sequence240 – 29253RREEN…PPPLQ → SCIIHLKSMGVASRHEYFSG TLQMPAHPVRNSTLENLWVD CSRSLRSTVLPFP in isoform 3.
VSP_008123
Alternative sequence293 – 604312Missing in isoform 3.
VSP_008124

Experimental info

Sequence conflict311P → H in AAH15066. Ref.7
Sequence conflict2661A → V in AK307887. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (MTGR1b) [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 1E55618844908169

FASTA60467,133
        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 

« Hide

Isoform 2 (MTGR1a) (EHT) [UniParc].

Checksum: 7B11331102BD85DB
Show »

FASTA57563,901
Isoform 3 [UniParc].

Checksum: 6DB58D27B5066D25
Show »

FASTA26328,567
Isoform 4 [UniParc].

Checksum: F5373F002C17ACB4
Show »

FASTA61467,965
Isoform 5 [UniParc].

Checksum: 19D9363F626BEF0F
Show »

FASTA59565,878

References

« Hide 'large scale' references
[1]"EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias."
Fracchiolla N.S., Colombo G., Finelli P., Maiolo A.T., Neri A.
Blood 92:3481-3484(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[2]"The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1."
Kitabayashi I., Ida K., Morohoshi F., Yokoyama A., Mitsuhashi N., Shimizu K., Nomura N., Hayashi Y., Ohki M.
Mol. Cell. Biol. 18:846-858(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, PHOSPHORYLATION, INTERACTION WITH MTG8 AND AML1-MTG8.
Tissue: Leukemia.
[3]"Structure and expression pattern of a human MTG8/ETO family gene, MTGR1."
Morohoshi F., Mitani S., Mitsuhashi N., Kitabayashi I., Takahashi E., Suzuki M., Munakata N., Ohki M.
Gene 241:287-295(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Leukemia.
[4]"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. expand/collapse author list , 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 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-532 (ISOFORM 5).
Tissue: Brain and Hippocampus.
[5]"The DNA sequence and comparative analysis of human chromosome 20."
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. expand/collapse author list , 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.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] (ISOFORMS 3 AND 4).
Tissue: Eye, Ovary and Prostate.
[8]"CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family."
Calabi F., Cilli V.
Genomics 52:332-341(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-604 (ISOFORMS 1/4/5), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
Tissue: Fetal brain and Retina.
[9]"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.
[10]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"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-409, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF039200 mRNA. Translation: AAC17499.1.
AF068266 mRNA. Translation: AAC19378.1. Different initiation.
AF013970 mRNA. Translation: AAC39841.1.
AF069747 mRNA. Translation: AAD02825.1.
AF076461 expand/collapse EMBL AC list , AF076452, AF076453, AF076454, AF076455, AF076456, AF076457, AF076458, AF076459, AF076460 Genomic DNA. Translation: AAD41221.1.
AK307887 mRNA. No translation available.
AK314159 mRNA. Translation: BAG36843.1.
AL034421, AL121906 Genomic DNA. Translation: CAI19280.2.
AL034421, AL121906 Genomic DNA. Translation: CAI19281.1.
AL121906, AL034421 Genomic DNA. Translation: CAI22125.1.
AL121906, AL034421 Genomic DNA. Translation: CAI22130.1.
AL121906, AL034421 Genomic DNA. Translation: CAM28282.1.
AL162505 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW76311.1.
BC015066 mRNA. Translation: AAH15066.1.
BC016298 mRNA. Translation: AAH16298.2.
BC040344 mRNA. Translation: AAH40344.1.
AF052210 mRNA. Translation: AAC64699.1.
RefSeqNP_001028171.1. NM_001032999.2.
NP_001034798.1. NM_001039709.1.
NP_005084.1. NM_005093.3.
UniGeneHs.153934.

3D structure databases

ProteinModelPortalO43439.
SMRO43439. Positions 112-209, 336-392, 429-459, 497-543.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114586. 20 interactions.
IntActO43439. 9 interactions.
MINTMINT-2865952.

PTM databases

PhosphoSiteO43439.

Proteomic databases

PaxDbO43439.
PRIDEO43439.

Protocols and materials databases

DNASU9139.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342704; ENSP00000345810; ENSG00000078699. [O43439-5]
ENST00000344201; ENSP00000341865; ENSG00000078699. [O43439-3]
ENST00000346541; ENSP00000262653; ENSG00000078699. [O43439-1]
ENST00000359606; ENSP00000352622; ENSG00000078699. [O43439-4]
ENST00000375279; ENSP00000364428; ENSG00000078699. [O43439-1]
ENST00000397798; ENSP00000380900; ENSG00000078699. [O43439-3]
ENST00000397800; ENSP00000380902; ENSG00000078699. [O43439-2]
ENST00000492345; ENSP00000433270; ENSG00000078699. [O43439-2]
GeneID9139.
KEGGhsa:9139.
UCSCuc002wzg.1. human. [O43439-1]
uc021wbz.1. human. [O43439-3]

Organism-specific databases

CTD9139.
GeneCardsGC20P032077.
HGNCHGNC:1536. CBFA2T2.
HPAHPA060523.
MIM603672. gene.
neXtProtNX_O43439.
PharmGKBPA26112.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79810.
HOVERGENHBG000169.
OMAGLNGGYQ.
OrthoDBEOG70W3D2.
PhylomeDBO43439.
TreeFamTF106303.

Gene expression databases

ArrayExpressO43439.
BgeeO43439.
GenevestigatorO43439.

Family and domain databases

InterProIPR013289. ETO.
IPR013291. MTGR1.
IPR014896. NHR2.
IPR003894. TAFH_NHR1.
IPR002893. Znf_MYND.
[Graphical view]
PfamPF08788. NHR2. 1 hit.
PF07531. TAFH. 1 hit.
PF01753. zf-MYND. 1 hit.
[Graphical view]
PRINTSPR01875. ETOFAMILY.
PR01877. MTGR1PROTEIN.
SMARTSM00549. TAFH. 1 hit.
[Graphical view]
PROSITEPS51119. TAFH. 1 hit.
PS01360. ZF_MYND_1. 1 hit.
PS50865. ZF_MYND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCBFA2T2. human.
GeneWikiCBFA2T2.
GenomeRNAi9139.
NextBio34271.
PROO43439.
SOURCESearch...

Entry information

Entry nameMTG8R_HUMAN
AccessionPrimary (citable) accession number: O43439
Secondary accession number(s): B2RAE6 expand/collapse secondary AC list , F8W6D7, Q5TGE4, Q5TGE5, Q5TGE6, Q5TGE7, Q8IWF3, Q96B06, Q96L00, Q9H436, Q9UJP8, Q9UJP9, Q9UP24
Entry history
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM