ID MTG8_HUMAN STANDARD; PRT; 604 AA. AC Q06455; Q06456; Q14873; Q16239; Q16346; Q16347; Q92479; Q9BRZ0; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1997, sequence version 2. DT 17-OCT-2006, entry version 66. DE Protein CBFA2T1 (Protein MTG8) (Protein ETO) (Eight twenty one DE protein) (Cyclin-D-related protein) (Zinc finger MYND domain- DE containing protein 2). GN Name=RUNX1T1; Synonyms=AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE, AND VARIANT AML1-MTG8/ETO FUSION IN AML-M2. RC TISSUE=Fetal brain; RX MEDLINE=93327761; PubMed=8334990; RA Miyoshi H., Kozu T., Shimizu K., Enomoto K., Maseki N., Kaneko Y., RA Kamada N., Ohki M.; RT "The t(8;21) translocation in acute myeloid leukemia results in RT production of an AML1-MTG8 fusion transcript."; RL EMBO J. 12:2715-2721(1993). RN [2] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=98326315; PubMed=9661669; DOI=10.1016/S0378-1119(98)00141-3; RA Wolford J.K., Prochazka M.; RT "Structure and expression of the human MTG8/ETO gene."; RL Gene 212:103-109(1998). RN [3] RP NUCLEOTIDE SEQUENCE OF 31-604. RX MEDLINE=94185017; PubMed=8137293; RA Erickson P.F., Robinson M., Owens G., Drabkin H.A.; RT "The ETO portion of acute myeloid leukemia t(8;21) fusion transcript RT encodes a highly evolutionarily conserved putative transcription RT factor."; RL Cancer Res. 54:1782-1786(1994). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-604. RC TISSUE=Muscle; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP NUCLEOTIDE SEQUENCE OF 334-432, AND VARIANT AML1-MTG8/ETO FUSION. RX MEDLINE=95002916; PubMed=7919324; RA Tighe J.E., Calabi F.; RT "Alternative, out-of-frame runt/MTG8 transcripts are encoded by the RT derivative (8) chromosome in the t(8;21) of acute myeloid leukemia RT M2."; RL Blood 84:2115-2121(1994). RN [6] RP VARIANT AML1-MTG8/ETO FUSION IN AML-M2. RX MEDLINE=95329434; PubMed=7541640; RA Era T., Asou N., Kunisada T., Yamasaki H., Asou H., Kamada N., RA Nishikawa S., Yamaguchi K., Takatsuki K.; RT "Identification of two transcripts of AML1/ETO-fused gene in t(8;21) RT leukemic cells and expression of wild-type ETO gene in hematopoietic RT cells."; RL Genes Chromosomes Cancer 13:25-33(1995). RN [7] RP VARIANT AML1-MTG8/ETO FUSION IN AML-M2. RX MEDLINE=93357484; PubMed=8353289; RA Kozu T., Miyoshi H., Shimizu K., Maseki N., Kaneko Y., Asou H., RA Kamada N., Ohki M.; RT "Junctions of the AML1/MTG8(ETO) fusion are constant in t(8;21) acute RT myeloid leukemia detected by reverse transcription polymerase chain RT reaction."; RL Blood 82:1270-1276(1993). RN [8] RP VARIANT AML1-MTG8/ETO FUSION IN AML-M2. RX MEDLINE=93046086; PubMed=1423235; DOI=10.1016/0165-4608(92)90384-K; RA Nisson P.E., Watkins P.C., Sacchi N.; RT "Transcriptionally active chimeric gene derived from the fusion of the RT AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic RT cells."; RL Cancer Genet. Cytogenet. 63:81-88(1992). CC -!- FUNCTION: Putative transcription factor. CC -!- SUBCELLULAR LOCATION: Nucleus (Potential). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=MTG8B; CC IsoId=Q06455-1; Sequence=Displayed; CC Name=MTG8A; CC IsoId=Q06455-2; Sequence=VSP_003327; CC -!- TISSUE SPECIFICITY: Most abundantly expressed in brain. Lower CC levels in lung, heart, testis and ovary. CC -!- DISEASE: A chromosomal aberration involving RUNX1T1 is a cause of CC acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) CC with RUNX1/AML1. CC -!- SIMILARITY: Contains 1 MYND-type zinc finger. CC -!- SIMILARITY: Contains 1 TAFH (NHR1) domain. CC -!- WEB RESOURCE: NAME=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/ETO.html". CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D14821; BAA03558.1; -; mRNA. DR EMBL; D13979; BAA03089.1; ALT_SEQ; mRNA. DR EMBL; D14289; BAA03247.1; ALT_INIT; mRNA. DR EMBL; AF018282; AAC28932.1; -; Genomic_DNA. DR EMBL; AF018271; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018272; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018273; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018274; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018275; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018276; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018277; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018278; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018279; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018281; AAC28932.1; JOINED; Genomic_DNA. DR EMBL; AF018282; AAC28931.1; -; Genomic_DNA. DR EMBL; AF018270; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018272; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018273; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018274; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018275; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018276; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018277; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018278; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018279; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; AF018281; AAC28931.1; JOINED; Genomic_DNA. DR EMBL; D43638; BAA07755.1; -; mRNA. DR EMBL; BC005850; AAH05850.1; ALT_INIT; mRNA. DR EMBL; X79990; CAA56311.1; -; mRNA. DR EMBL; S74096; AAB32126.1; -; Genomic_DNA. DR EMBL; S74092; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; S78158; AAB34819.2; ALT_SEQ; mRNA. DR EMBL; S78159; AAB34820.2; ALT_SEQ; mRNA. DR EMBL; D14822; BAA03559.1; ALT_SEQ; mRNA. DR EMBL; D14823; BAA03560.1; ALT_SEQ; mRNA. DR EMBL; S50186; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR PIR; C57784; C57784. DR UniGene; Hs.368431; -. DR PDB; 1WQ6; X-ray; A/B=335-403. DR Ensembl; ENSG00000079102; Homo sapiens. DR KEGG; hsa:862; -. DR HGNC; HGNC:1535; RUNX1T1. DR MIM; 133435; gene. DR ArrayExpress; Q06455; -. DR RZPD-ProtExp; IOH42249; -. DR RZPD-ProtExp; RZPDo834F0321; -. DR RZPD-ProtExp; T3109; -. DR GO; GO:0003700; F:transcription factor activity; TAS. DR GO; GO:0006091; P:generation of precursor metabolites and energy; TAS. DR InterPro; IPR013289; ETO. DR InterPro; IPR013290; MTG8. DR InterPro; IPR003894; TAFH_NHR1. DR InterPro; IPR002893; Znf_MYND. DR Pfam; PF07531; TAFH; 1. DR Pfam; PF01753; zf-MYND; 1. DR PRINTS; PR01875; ETOFAMILY. DR PRINTS; PR01876; MTG8PROTEIN. DR SMART; SM00549; TAFH; 1. DR PROSITE; PS51119; TAFH; 1. DR PROSITE; PS01360; ZF_MYND_1; 1. DR PROSITE; PS50865; ZF_MYND_2; 1. KW 3D-structure; Alternative splicing; Chromosomal rearrangement; KW DNA-binding; Metal-binding; Nuclear protein; Proto-oncogene; KW Transcription; Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 604 Protein CBFA2T1. FT /FTId=PRO_0000218299. FT DOMAIN 120 215 TAFH. FT ZN_FING 515 551 MYND-type. FT COMPBIAS 57 60 Poly-Pro. FT COMPBIAS 102 108 Poly-Ser. FT COMPBIAS 290 297 Poly-Pro. FT COMPBIAS 408 413 Poly-Ser. FT SITE 30 31 Breakpoint for translocation to form FT AML1-MTG8 in AML-M2. FT VAR_SEQ 1 29 MISVKRNTWRALSLVIGDCRKKGNFEYCQ -> MP (in FT isoform MTG8A). FT /FTId=VSP_003327. FT HELIX 347 399 SQ SEQUENCE 604 AA; 67566 MW; C3D2452F96E65679 CRC64; MISVKRNTWR ALSLVIGDCR KKGNFEYCQD RTEKHSTMPD SPVDVKTQSR LTPPTMPPPP TTQGAPRTSS FTPTTLTNGT SHSPTALNGA PSPPNGFSNG PSSSSSSSLA NQQLPPACGA RQLSKLKRFL TTLQQFGNDI SPEIGERVRT LVLGLVNSTL TIEEFHSKLQ EATNFPLRPF VIPFLKANLP LLQRELLHCA RLAKQNPAQY LAQHEQLLLD ASTTSPVDSS ELLLDVNENG KRRTPDRTKE NGFDREPLHS EHPSKRPCTI SPGQRYSPNN GLSYQPNGLP HPTPPPPQHY RLDDMAIAHH YRDSYRHPSH RDLRDRNRPM GLHGTRQEEM IDHRLTDREW AEEWKHLDHL LNCIMDMVEK TRRSLTVLRR CQEADREELN YWIRRYSDAE DLKKGGGSSS SHSRQQSPVN PDPVALDAHR EFLHRPASGY VPEEIWKKAE EAVNEVKRQA MTELQKAVSE AERKAHDMIT TERAKMERTV AEAKRQAAED ALAVINQQED SSESCWNCGR KASETCSGCN TARYCGSFCQ HKDWEKHHHI CGQTLQAQQQ GDTPAVSSSV TPNSGAGSPM DTPPAATPRS TTPGTPSTIE TTPR //