U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 12394, updated on 3-Jan-2023

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Runx1 in Genome Data Viewer
Location:
16 C4; 16 53.7 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 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_000082.7Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 6 Neighboring gene predicted gene, 30224 Neighboring gene enhancer in intron 5 of Runx1 Neighboring gene Runx1 +23 hematopoietic stem cell enhancer Neighboring gene predicted gene, 30281 Neighboring gene predicted gene, 41499 Neighboring gene predicted gene, 30474

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (47)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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 
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
PubMed 
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
PubMed 
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 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
PubMed 
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
PubMed 
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 
located_in 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

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)

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_001111021.2NP_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/TrEMBL
    A0A6P5RCN6, A0A8C6GT15, Q3UM65
    Related
    ENSMUSP00000023673.8, ENSMUST00000023673.14
    Conserved Domains (2) summary
    pfam00853
    Location:72193
    Runt; Runt domain
    pfam08504
    Location:375465
    RunxI; Runx inhibition domain
  2. NM_001111022.2NP_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
    A0A6P5R735
    Conserved Domains (2) summary
    pfam00853
    Location:72192
    Runt; Runt domain
    pfam08504
    Location:311401
    RunxI; Runx inhibition domain
  3. NM_001111023.2NP_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/TrEMBL
    G3UWD2
    Related
    ENSMUSP00000131079.2, ENSMUST00000168195.8
    Conserved Domains (2) summary
    pfam00853
    Location:54180
    Runt; Runt domain
    pfam08504
    Location:361451
    RunxI; Runx inhibition domain
  4. NM_009821.3NP_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:54180
    Runt; Runt domain
    pfam08504
    Location:297387
    RunxI; Runx inhibition domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    92398354..92622962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)