Runx1 runt related transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Runx1provided by MGI
Official Full Name: runt related transcription factor 1provided by MGI
Primary source: MGI:MGI:99852
See related: Ensembl:ENSMUSG00000022952 AllianceGenome:MGI:99852
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: AML1; Cbfa2; Pebp2a2; Pebpa2b; CBF-alpha-2
Summary: Enables DNA-binding transcription factor activity; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of alpha-beta T cell differentiation; regulation of gene expression; and response to retinoic acid. Acts upstream of or within several processes, including animal organ development; behavioral response to pain; and nervous system development. Located in basement membrane and nucleus. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in acute myeloid leukemia and esophagus squamous cell carcinoma. Orthologous to human RUNX1 (RUNX family transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 11.2), lung adult (RPKM 5.4) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C4; 16 53.7 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (92398354..92622962, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (92601466..92826074, complement)

Chromosome 16 - NC_000082.7 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?

Ribonucleicacid interference or small molecule inhibition of Runx1 in the border zone prevents cardiac contractile dysfunction following myocardial infarction.
Title: Ribonucleicacid interference or small molecule inhibition of Runx1 in the border zone prevents cardiac contractile dysfunction following myocardial infarction.
Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice.
Title: Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice.
Runx1 Deficiency Promotes M2 Macrophage Polarization Through Enhancing STAT6 Phosphorylation.
Title: Runx1 Deficiency Promotes M2 Macrophage Polarization Through Enhancing STAT6 Phosphorylation.
Aberrant SUMO2/3 modification of RUNX1 upon SENP1 inhibition is linked to the development of diabetic retinopathy in mice.
Title: Aberrant SUMO2/3 modification of RUNX1 upon SENP1 inhibition is linked to the development of diabetic retinopathy in mice.
Tumor cell-released kynurenine biases MEP differentiation into megakaryocytes in individuals with cancer by activating AhR-RUNX1.
Title: Tumor cell-released kynurenine biases MEP differentiation into megakaryocytes in individuals with cancer by activating AhR-RUNX1.
RUNX1 facilitates heart failure progression through regulating TGF-beta-induced cardiac remodeling.
Title: RUNX1 facilitates heart failure progression through regulating TGF-β-induced cardiac remodeling.
TRAF5 regulates intestinal mucosal Th1/Th17 cell immune responses via Runx1 in colitis mice.
Title: TRAF5 regulates intestinal mucosal Th1/Th17 cell immune responses via Runx1 in colitis mice.
Runt-related transcription factor-1 ameliorates bile acid-induced hepatic inflammation in cholestasis through JAK/STAT3 signaling.
Title: Runt-related transcription factor-1 ameliorates bile acid-induced hepatic inflammation in cholestasis through JAK/STAT3 signaling.
RUNX1 promotes liver fibrosis progression through regulating TGF-beta signalling.
Title: RUNX1 promotes liver fibrosis progression through regulating TGF-β signalling.
RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia.
Title: RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (305)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (47) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Runx1 (e-PCR), detects polymorphism
- UniSTS:265479

D16Mit128 (e-PCR), detects polymorphism
- UniSTS:127759

Runx1 (e-PCR), detects polymorphism
- UniSTS:259137

Runx1 (e-PCR), detects polymorphism
- UniSTS:259653

03.MMHAP38FRA9.seq (e-PCR)
- UniSTS:122741

AI462102 (e-PCR)
- UniSTS:166017

D26532 (e-PCR)
- UniSTS:124818

Runx1 (e-PCR), detects polymorphism
- UniSTS:141241

Runx1 (e-PCR), detects polymorphism
- UniSTS:141242

Runx1 (e-PCR), detects polymorphism
- UniSTS:141243

11.MMHAP83FRD8.seq (e-PCR)
- UniSTS:123092

Runx1 (e-PCR), detects polymorphism
- UniSTS:547543

Runx1 (e-PCR), detects polymorphism
- UniSTS:547544

Runx1 (e-PCR), detects polymorphism
- UniSTS:547545

Runx1 (e-PCR), detects polymorphism
- UniSTS:547546

Runx1 (e-PCR), detects polymorphism
- UniSTS:547547

Runx1 (e-PCR), detects polymorphism
- UniSTS:547548

Runx1 (e-PCR), detects polymorphism
- UniSTS:547549

Runx1 (e-PCR), detects polymorphism
- UniSTS:547302

D16Mit51 (e-PCR), detects polymorphism
- UniSTS:116455

D16Mit52 (e-PCR), detects polymorphism
- UniSTS:116457

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables promoter-specific chromatin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info
enables transcription corepressor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within behavioral response to pain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within definitive hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemopoiesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in hemopoiesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myeloid cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in myeloid leukocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of CD4-positive, alpha-beta T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of granulocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of CD8-positive, alpha-beta T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of granulocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-2 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of progesterone secretion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of type II interferon production	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
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of T cell anergy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of hair follicle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISO Inferred from Sequence Orthology more info
part_of core-binding factor complex	TAS Traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: runt-related transcription factor 1

Names: SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit; acute myeloid leukemia 1 protein; core binding factor alpha 2; core-binding factor subunit alpha-2; oncogene AML-1; polyomavirus enhancer-binding protein 2 alpha B subunit; runt domain, alpha subunit 2

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_001111021.2 → NP_001104491.1 runt-related transcription factor 1 isoform 1

See identical proteins and their annotated locations for NP_001104491.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1, also known as AML1-C; PMID 11243869).

Source sequence(s)

AK040240, AK137493, AL672278, BQ033862, CT025774

Consensus CDS

CCDS49917.1

UniProtKB/Swiss-Prot

O08598, Q03347, Q62049, Q9ESB9, Q9ET65

UniProtKB/TrEMBL

Q3UM65

Related

ENSMUSP00000023673.8, ENSMUST00000023673.14

Conserved Domains (2) summary

pfam00853
Location:72 → 193

Runt; Runt domain

pfam08504
Location:375 → 465

RunxI; Runx inhibition domain
NM_001111022.2 → NP_001104492.1 runt-related transcription factor 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.

Source sequence(s)

AL672278, BQ033862, CT025774

UniProtKB/TrEMBL

Q8BQ09

Conserved Domains (2) summary

pfam00853
Location:72 → 192

Runt; Runt domain

pfam08504
Location:311 → 401

RunxI; Runx inhibition domain
NM_001111023.2 → NP_001104493.1 runt-related transcription factor 1 isoform 3

See identical proteins and their annotated locations for NP_001104493.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3, also known as AML1-B or PEB2-alpha B1) has a distinct N-terminus and is shorter than isoform 1 (PMIDs 8437866 and 8164679).

Source sequence(s)

AL672278, BQ033862, CT025774

Consensus CDS

CCDS49916.1

UniProtKB/Swiss-Prot

O08598, Q03347, Q62049, Q9ESB9, Q9ET65

UniProtKB/TrEMBL

G3UWD2

Related

ENSMUSP00000131079.2, ENSMUST00000168195.8

Conserved Domains (2) summary

pfam00853
Location:54 → 180

Runt; Runt domain

pfam08504
Location:361 → 451

RunxI; Runx inhibition domain
NM_009821.3 → NP_033951.2 runt-related transcription factor 1 isoform 4

See identical proteins and their annotated locations for NP_033951.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the use of an alternate promoter and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon compared to variant 1. The encoded protein (isoform 4, also known as PEB2-alpha B2) has a distinct N-terminus and is shorter than isoform 1 (PMID 8164679).

Source sequence(s)

AK051758, AL672278, BQ033862, CT025774

Consensus CDS

CCDS28339.1

UniProtKB/TrEMBL

G3X9W7, Q8BQ09

Related

ENSMUSP00000109589.4, ENSMUST00000113956.10

Conserved Domains (2) summary

pfam00853
Location:54 → 180

Runt; Runt domain

pfam08504
Location:297 → 387

RunxI; Runx inhibition domain