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    Runx1t1 RUNX1 translocation partner 1 [ Mus musculus (house mouse) ]

    Gene ID: 12395, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Runx1t1provided by MGI
    Official Full Name
    RUNX1 translocation partner 1provided by MGI
    Primary source
    MGI:MGI:104793
    See related
    Ensembl:ENSMUSG00000006586 AllianceGenome:MGI:104793
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ETO; MTG8; Cbfa2t1h
    Summary
    Enables identical protein binding activity. Involved in negative regulation of fat cell differentiation. Acts upstream of or within fat cell differentiation and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human RUNX1T1 (RUNX1 partner transcriptional co-repressor 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in whole brain E14.5 (RPKM 6.0), CNS E18 (RPKM 4.8) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Runx1t1 in Genome Data Viewer
    Location:
    4 A1; 4 5.88 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (13742628..13895056)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (13742628..13895056)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene 11826 Neighboring gene predicted gene, 36488 Neighboring gene STARR-seq mESC enhancer starr_09626 Neighboring gene predicted gene, 36438 Neighboring gene STARR-seq mESC enhancer starr_09627 Neighboring gene STARR-seq mESC enhancer starr_09628 Neighboring gene STARR-seq mESC enhancer starr_09629 Neighboring gene predicted gene 11823 Neighboring gene predicted gene, 24068

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Gene targeting reveals a crucial role for MTG8 in the gut. Calabi F, et al. Mol Cell Biol, 2001 Aug. PMID 11463846, Free PMC Article
    2. The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved, putative transcription factor. Erickson PF, et al. Cancer Res, 1994 Apr 1. PMID 8137293
    3. ETO-2, a new member of the ETO-family of nuclear proteins. Davis JN, et al. Oncogene, 1999 Feb 11. PMID 10022820
    4. Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t(8;21) acute myeloid leukemia. Higuchi M, et al. Cancer Cell, 2002 Feb. PMID 12086889
    5. Deletion of an AML1-ETO C-terminal NcoR/SMRT-interacting region strongly induces leukemia development. Yan M, et al. Proc Natl Acad Sci U S A, 2004 Dec 7. PMID 15569932, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.
      Title: The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.
    2. MTG8 interacts with LHX6 to specify cortical interneuron subtype identity.
      Title: MTG8 interacts with LHX6 to specify cortical interneuron subtype identity.
    3. Results suggest that AML1/ETO expression determines a more mobile and less adherent phenotype in preleukemic cells, therefore altering the interaction with the hematopoietic niche, potentially leading to the migration across the bone marrow barrier and to disease progression
      Title: AML1/ETO accelerates cell migration and impairs cell-to-cell adhesion and homing of hematopoietic stem/progenitor cells.
    4. The data suggest that the tumor suppressor activity of both RUNX1t1 and TFF1 are mechanistically connected to CEBPB and that cross-regulation between CEBPB-RUNX1t1-TFF1 plays an important role in gastric carcinogenesis.
      Title: C/EBPβ regulates homeostatic and oncogenic gastric cell proliferation.
    5. RUNX1T1 serves as a common angiogenic driver for vaculogenesis and functionality of endothelial lineage cells
      Title: Endothelial angiogenesis is directed by RUNX1T1-regulated VEGFA, BMP4 and TGF-β2 expression.
    6. Leukaemogenesis by AML1-ETO requires enhanced C/D box snoRNA/RNP formation.
      Title: AML1-ETO requires enhanced C/D box snoRNA/RNP formation to induce self-renewal and leukaemia.
    7. Data show that RUNX1-ETO;c-Kit(T417IDelta418-419) coexpression promoted exclusively acute myeloid leukemia (AML) in a fraction (51%) of reconstituted mice.
      Title: Distinct classes of c-Kit-activating mutations differ in their ability to promote RUNX1-ETO-associated acute myeloid leukemia.
    8. Self-renewal induced by AML1/ETO in primary murine progenitors was inhibited when Aes was decreased or absent.
      Title: AML1/ETO induces self-renewal in hematopoietic progenitor cells via the Groucho-related amino-terminal AES protein.
    9. the eTAFH-E protein interaction appears to contribute relatively little to the activity of AML1-ETO
      Title: Structure of the AML1-ETO eTAFH domain-HEB peptide complex and its contribution to AML1-ETO activity.
    10. AML1 DNA-binding domain and the ETO NHR2-dimerization domain, but not the ETO NHR1 domain, are critical for the induction of acute myeloid leukemia by AML1-ETO9a
      Title: RUNX1/AML1 DNA-binding domain and ETO/MTG8 NHR2-dimerization domain are critical to AML1-ETO9a leukemogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein CBFA2T1
    Names
    CBFA2T1 identified gene homolog
    acute myelogenous leukemia 1 translocation 1 protein
    runt-related transcription factor 1; translocated to, 1 (cyclin D-related)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001111026.2 → NP_001104496.1  protein CBFA2T1 isoform 2

      See identical proteins and their annotated locations for NP_001104496.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK032132, AK142006, AL807804
      Consensus CDS
      CCDS51124.1
      UniProtKB/TrEMBL
      Q3UQX8, Q8C066
      Related
      ENSMUSP00000006761.4, ENSMUST00000006761.10
      Conserved Domains (4) summary
      pfam04094
      Location:447 → 584
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:495 → 531
      zf-MYND; MYND finger
      pfam07531
      Location:102 → 191
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:317 → 383
      NHR2; NHR2 domain like

    2. NM_001111027.2 → NP_001104497.1  protein CBFA2T1 isoform 1

      See identical proteins and their annotated locations for NP_001104497.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK032132, AK142006, AL807804, BY140482, CB249744
      Consensus CDS
      CCDS51125.1
      UniProtKB/TrEMBL
      B1AXH8, Q8C066
      Related
      ENSMUSP00000127109.2, ENSMUST00000105566.9
      Conserved Domains (4) summary
      pfam04094
      Location:467 → 604
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 211
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like

    3. NM_009822.3 → NP_033952.1  protein CBFA2T1 isoform 3

      See identical proteins and their annotated locations for NP_033952.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK032132, AL807804, AL844572, BC139200, BY779334
      Consensus CDS
      CCDS17978.1
      UniProtKB/Swiss-Prot
      Q61909
      UniProtKB/TrEMBL
      B1AXH9, Q8C066
      Related
      ENSMUSP00000095856.4, ENSMUST00000098256.4
      Conserved Domains (4) summary
      pfam01753
      Location:488 → 524
      zf-MYND; MYND finger
      pfam07531
      Location:95 → 181
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:310 → 376
      NHR2; NHR2 domain like
      cl25642
      Location:440 → 577
      DUF390; Protein of unknown function (DUF390)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      13742628..13895056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253116.1 → XP_030108976.1  protein CBFA2T1 isoform X2

      UniProtKB/TrEMBL
      B1AXH8, Q8C066
      Conserved Domains (4) summary
      pfam04094
      Location:467 → 604
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 211
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like

    2. XM_006537568.5 → XP_006537631.1  protein CBFA2T1 isoform X1

      See identical proteins and their annotated locations for XP_006537631.1

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      COG1390
      Location:466 → 537
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam01753
      Location:538 → 574
      zf-MYND; MYND finger
      pfam07531
      Location:145 → 234
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:360 → 426
      NHR2; NHR2 domain like

    3. XM_030253120.1 → XP_030108980.1  protein CBFA2T1 isoform X5

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    4. XM_006537572.3 → XP_006537635.1  protein CBFA2T1 isoform X5

      See identical proteins and their annotated locations for XP_006537635.1

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    5. XM_030253118.1 → XP_030108978.1  protein CBFA2T1 isoform X4

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      COG1390
      Location:435 → 506
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam01753
      Location:507 → 543
      zf-MYND; MYND finger
      pfam07531
      Location:114 → 203
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:329 → 395
      NHR2; NHR2 domain like

    6. XM_006537569.3 → XP_006537632.1  protein CBFA2T1 isoform X1

      See identical proteins and their annotated locations for XP_006537632.1

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      COG1390
      Location:466 → 537
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam01753
      Location:538 → 574
      zf-MYND; MYND finger
      pfam07531
      Location:145 → 234
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:360 → 426
      NHR2; NHR2 domain like

    7. XM_006537571.4 → XP_006537634.1  protein CBFA2T1 isoform X3

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      COG1390
      Location:439 → 510
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam01753
      Location:511 → 547
      zf-MYND; MYND finger
      pfam07531
      Location:118 → 207
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:333 → 399
      NHR2; NHR2 domain like

    8. XM_030253119.2 → XP_030108979.1  protein CBFA2T1 isoform X5

      UniProtKB/TrEMBL
      Q8C066
      Conserved Domains (4) summary
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    9. XM_030253121.1 → XP_030108981.1  protein CBFA2T1 isoform X6

      Conserved Domains (3) summary
      COG1390
      Location:139 → 210
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam01753
      Location:211 → 247
      zf-MYND; MYND finger
      pfam08788
      Location:33 → 99
      NHR2; NHR2 domain like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61909.1 GenPept UniProtKB/Swiss-Prot:Q61909

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