LOCUS       NP_001028171             595 aa            linear   PRI 27-APR-2025
DEFINITION  protein CBFA2T2 isoform MTGR1c [Homo sapiens].
ACCESSION   NP_001028171
VERSION     NP_001028171.1
DBSOURCE    REFSEQ: accession NM_001032999.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 595)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (residues 1 to 595)
  AUTHORS   Luo,J., Dou,L., Yang,Z., Zhou,Z. and Huang,H.
  TITLE     CBFA2T2 promotes adipogenic differentiation of mesenchymal stem
            cells by regulating CEBPA
  JOURNAL   Biochem Biophys Res Commun 529 (2), 133-139 (2020)
   PUBMED   32703401
  REMARK    GeneRIF: CBFA2T2 promotes adipogenic differentiation of mesenchymal
            stem cells by regulating CEBPA.
REFERENCE   3  (residues 1 to 595)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (residues 1 to 595)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (residues 1 to 595)
  AUTHORS   Tu,S., Narendra,V., Yamaji,M., Vidal,S.E., Rojas,L.A., Wang,X.,
            Kim,S.Y., Garcia,B.A., Tuschl,T., Stadtfeld,M. and Reinberg,D.
  TITLE     Co-repressor CBFA2T2 regulates pluripotency and germline
            development
  JOURNAL   Nature 534 (7607), 387-390 (2016)
   PUBMED   27281218
  REMARK    GeneRIF: CBFA2T2 forms a biochemical complex with PRDM14, a
            germline-specific transcription factor; mechanistically, CBFA2T2
            oligomerizes to form a scaffold upon which PRDM14 and OCT4 are
            stabilized on chromatin
REFERENCE   6  (residues 1 to 595)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            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., 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.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., 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., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            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,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. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   7  (residues 1 to 595)
  AUTHORS   Morohoshi,F., Mitani,S., Mitsuhashi,N., Kitabayashi,I.,
            Takahashi,E., Suzuki,M., Munakata,N. and Ohki,M.
  TITLE     Structure and expression pattern of a human MTG8/ETO family gene,
            MTGR1
  JOURNAL   Gene 241 (2), 287-295 (2000)
   PUBMED   10675041
REFERENCE   8  (residues 1 to 595)
  AUTHORS   Fracchiolla,N.S., Colombo,G., Finelli,P., Maiolo,A.T. and Neri,A.
  TITLE     EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region
            and is deleted in acute myeloid leukemias
  JOURNAL   Blood 92 (9), 3481-3484 (1998)
   PUBMED   9787195
REFERENCE   9  (residues 1 to 595)
  AUTHORS   Calabi,F. and Cilli,V.
  TITLE     CBFA2T1, a gene rearranged in human leukemia, is a member of a
            multigene family
  JOURNAL   Genomics 52 (3), 332-341 (1998)
   PUBMED   9790752
REFERENCE   10 (residues 1 to 595)
  AUTHORS   Kitabayashi,I., Ida,K., Morohoshi,F., Yokoyama,A., Mitsuhashi,N.,
            Shimizu,K., Nomura,N., Hayashi,Y. and Ohki,M.
  TITLE     The AML1-MTG8 leukemic fusion protein forms a complex with a novel
            member of the MTG8(ETO/CDR) family, MTGR1
  JOURNAL   Mol Cell Biol 18 (2), 846-858 (1998)
   PUBMED   9447981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162505.20, CB998035.1,
            BC016298.2 and AL121906.18.
            
            Summary: In acute myeloid leukemia, especially in the M2 subtype,
            the t(8;21)(q22;q22) translocation is one of the most frequent
            karyotypic abnormalities. The translocation produces a chimeric
            gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the
            3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is
            thought to associate with the nuclear corepressor/histone
            deacetylase complex to block hematopoietic differentiation. The
            protein encoded by this gene binds to the AML1-MTG8 complex and may
            be important in promoting leukemogenesis. Several transcript
            variants are thought to exist for this gene, but the full-length
            natures of only three have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region compared to variant 2. The resulting isoform (MTGR1c)
            has a shorter and distinct N-terminus compared to isoform MTGR1b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.14.1, SRR1660803.228731.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342704.11/ ENSP00000345810.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..595
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21-q11.22"
     Protein         1..595
                     /product="protein CBFA2T2 isoform MTGR1c"
                     /note="MTG8-like protein; ETO homolog on chromosome 20;
                     protein CBFA2T2; myeloid translocation gene-related
                     protein 1; MTG8-related protein 1; ETO homologous on
                     chromosome 20; myeloid translocation-related protein 1;
                     core-binding factor, runt domain, alpha subunit 2;
                     translocated to, 2; CBFA2/RUNX1 translocation partner 2"
                     /calculated_mol_wt=65747
     Region          106..195
                     /region_name="TAFH"
                     /note="NHR1 homology to TAF; pfam07531"
                     /db_xref="CDD:462195"
     Region          322..388
                     /region_name="NHR2"
                     /note="NHR2 domain like; pfam08788"
                     /db_xref="CDD:430219"
     Region          <429..>497
                     /region_name="PRK00409"
                     /note="recombination and DNA strand exchange inhibitor
                     protein; Reviewed"
                     /db_xref="CDD:234750"
     Region          498..534
                     /region_name="zf-MYND"
                     /note="MYND finger; pfam01753"
                     /db_xref="CDD:460312"
     CDS             1..595
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /coded_by="NM_001032999.3:173..1960"
                     /note="isoform MTGR1c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS46590.1"
                     /db_xref="GeneID:9139"
                     /db_xref="HGNC:HGNC:1536"
                     /db_xref="MIM:603672"
ORIGIN      
        1 mvgvpgaaaf qlgpekrvpa mpgspvevki qsrsspptmp plppinpggp rpvsftptal
       61 snginhsppt lngapsppqr fsngpassts saltnqqlpa tcgarqlskl krflttlqqf
      121 gndispeige kvrtlvlalv nstvtieefh cklqeatnfp lrpfvipflk anlpllqrel
      181 lhcaraakqt psqylaqheh lllntsiasp adssellmev hgngkrpspe rreensfdrd
      241 tiapeppakr vctispaprh spaltvplmn pggqfhptpp plqhytledi atshlyrepn
      301 kmlehrevrd rhhslglngg yqdelvdhrl terewadewk hldhalncim emvektrrsm
      361 avlrrcqesd reelnywkrr ynentelrkt gtelvsrqhs pgsadslsnd sqrefnsrpg
      421 tgyvpvefwk kteeavnkvk iqamsevqka vaeaeqkafe viaterarme qtiadvkrqa
      481 aedaflvine qeestencwn cgrkasetcs gcniarycgs fcqhkdwerh hrlcgqnlhg
      541 qsphgqgrpl lpvgrgssar sadcsvpspa ldktsattsr sstpasvtai dtngl
//
