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

Gene ID: 12395, updated on 2-Nov-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, Nov 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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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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