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

Summary

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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
MTG8 interacts with LHX6 to specify cortical interneuron subtype identity.
Title: MTG8 interacts with LHX6 to specify cortical interneuron subtype identity.
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.
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.
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.
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.
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.
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.
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.
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

PMC138017P1 (e-PCR)
- UniSTS:270860

Runx1t1 (e-PCR), detects polymorphism
- UniSTS:498254

RH80460 (e-PCR)
- UniSTS:84061

D8S1950 (e-PCR)
- UniSTS:66943

Runx1t1 (e-PCR), detects polymorphism
- UniSTS:515982

NoName (e-PCR)
- UniSTS:546979

Runx1t1 (e-PCR), detects polymorphism
- UniSTS:546979

Cbfa2t1h (e-PCR), detects polymorphism
- UniSTS:141244

UniSTS:225014 (e-PCR)
- UniSTS:225014

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)

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
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
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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

13742628..13895056

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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