RUNX1T1 (RUNX1 partner transcriptional co-repressor 1)

Gene

• Entrez ID: 862
• Gene name: RUNX1 partner transcriptional co-repressor 1
• Gene symbol: RUNX1T1
• Synonyms: AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5`-region of the runt-related transcription factor 1 gene fused to the 3`-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1563765580	->A	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1587007112	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020443	hsa-miR-106b-5p	Microarray	17242205
MIRT027124	hsa-miR-103a-3p	Sequencing	20371350
MIRT027124	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT031791	hsa-miR-16-5p	Sequencing	20371350
MIRT031791	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT051459	hsa-let-7e-5p	CLASH	23622248
MIRT521256	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT521256	hsa-miR-574-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT521256	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT521256	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT521256	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT521257	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521257	hsa-miR-1277-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT521258	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521258	hsa-miR-190a-3p	PAR-CLIP, HITS-CLIP	21572407
MIRT521259	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT521259	hsa-miR-6867-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT521259	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT521259	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT521259	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT521260	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT521260	hsa-miR-223-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT521260	hsa-miR-223-5p	HITS-CLIP	24906430
MIRT521260	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT521260	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT521261	hsa-miR-505-5p	PAR-CLIP	23446348
MIRT521261	hsa-miR-505-5p	HITS-CLIP	21572407
MIRT521262	hsa-miR-4802-5p	PAR-CLIP	23446348
MIRT521262	hsa-miR-4802-5p	HITS-CLIP	21572407
MIRT521263	hsa-miR-6514-5p	PAR-CLIP	23446348
MIRT521263	hsa-miR-6514-5p	HITS-CLIP	21572407
MIRT521264	hsa-miR-8076	PAR-CLIP	23446348
MIRT521264	hsa-miR-8076	HITS-CLIP	21572407
MIRT521265	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521265	hsa-miR-5011-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT546614	hsa-miR-3163	PAR-CLIP	21572407
MIRT546615	hsa-miR-552-3p	PAR-CLIP	21572407
MIRT546616	hsa-miR-5683	PAR-CLIP	21572407
MIRT546617	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT546618	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546619	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546620	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546621	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT546622	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546623	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546624	hsa-miR-107	PAR-CLIP	21572407
MIRT554507	hsa-miR-6862-3p	PAR-CLIP	21572407
MIRT554508	hsa-miR-6784-3p	PAR-CLIP	21572407
MIRT554509	hsa-miR-6511b-3p	PAR-CLIP	21572407
MIRT554510	hsa-miR-6511a-3p	PAR-CLIP	21572407
MIRT554511	hsa-miR-210-3p	PAR-CLIP, HITS-CLIP	21572407
MIRT554511	hsa-miR-210-3p	HITS-CLIP	23313552
MIRT554511	hsa-miR-210-3p	HITS-CLIP	27418678
MIRT554512	hsa-miR-455-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT554512	hsa-miR-455-5p	HITS-CLIP	24906430
MIRT554512	hsa-miR-455-5p	HITS-CLIP	23313552
MIRT554512	hsa-miR-455-5p	HITS-CLIP	27418678
MIRT616198	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT616199	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT616200	hsa-miR-587	HITS-CLIP	23824327
MIRT616201	hsa-miR-568	HITS-CLIP	23824327
MIRT616202	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT616203	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT616204	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT616205	hsa-miR-5701	HITS-CLIP	23824327
MIRT616206	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616207	hsa-miR-885-5p	HITS-CLIP	23824327
MIRT654074	hsa-miR-384	HITS-CLIP	23824327
MIRT654075	hsa-miR-3685	HITS-CLIP	23824327
MIRT654076	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT654077	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT654078	hsa-miR-3202	HITS-CLIP	23824327
MIRT654079	hsa-miR-4533	HITS-CLIP	23824327
MIRT654080	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT654081	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT654082	hsa-miR-3688-3p	HITS-CLIP	23824327
MIRT654083	hsa-miR-6796-3p	HITS-CLIP	23824327
MIRT783861	hsa-miR-147a	HITS-CLIP	27418678
MIRT787614	hsa-miR-550b-3p	HITS-CLIP	27418678
MIRT787928	hsa-miR-581	HITS-CLIP	27418678
MIRT788941	hsa-miR-6818-5p	HITS-CLIP	27418678

Transcription factors

Transcription factor	Regulation	Reference
SMAD4	Activation	21540640

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	TAS	23251453
GO:0005515	Function	Protein binding	IPI	10973986, 12874834, 17572682, 18519037, 18952841
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0016363	Component	Nuclear matrix	IDA	10973986
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	23251453
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 133435
• HGNC: 1535
• e!Ensembl: ENSG00000079102

Protein

• UniProt ID: Q06455
• Protein name: Protein CBFA2T1 (Cyclin-D-related protein) (Eight twenty one protein) (Protein ETO) (Protein MTG8) (Zinc finger MYND domain-containing protein 2)
• Protein function: 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, PubMed:10688654). 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).
• PDB: 1WQ6, 2DJ8, 2H7B, 2KNH, 2KYG, 2OD1, 2ODD, 2PP4, 4JOL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07531	TAFH	122 → 211	NHR1 homology to TAF	Family
  PF08788	NHR2	337 → 403	NHR2 domain like	Domain
  PF01753	zf-MYND	515 → 551	MYND finger	Domain

• Sequence:

  MISVKRNTWRALSLVIGDCRKKGNFEYCQDRTEKHSTMPDSPVDVKTQSRLTPPTMPPPP
  TTQGAPRTSSFTPTTLTNGTSHSPTALNGAPSPPNGFSNGPSSSSSSSLANQQLPPACGA
  RQLSKLKRFLTTLQQFGNDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPF
  VIPFLKANLPLLQRELLHCARLAKQNPAQYLAQHEQLLLDASTTSPVDSSELLLDVNENG
  KRRTPDRTKENGFDREPLHSEHPSKRPCTISPGQRYSPNNGLSYQPNGLPHPTPPPPQHY
  RLDDMAIAHHYRDSYRHPSHRDLRDRNRPMGLHGTRQEEMIDHRLTDREWAEEWKHLDHL
  LNCIMDMVEKTRRSLTVLRRCQEADREELNYWIRRYSDAEDLKKGGGSSSSHSRQQSPVN
  PDPVALDAHREFLHRPASGYVPEEIWKKAEEAVNEVKRQAMTELQKAVSEAERKAHDMIT
  TERAKMERTVAEAKRQAAEDALAVINQQEDSSESCWNCGRKASETCSGCNTARYCGSFCQ
  HKDWEKHHHICGQTLQAQQQGDTPAVSSSVTPNSGAGSPMDTPPAATPRSTTPGTPSTIE
  TTPR

• Sequence length: 604