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

    Gene ID: 12394, updated on 24-Jun-2016
    Official Symbol
    Runx1provided by MGI
    Official Full Name
    runt related transcription factor 1provided by MGI
    Primary source
    MGI:MGI:99852
    See related
    Ensembl:ENSMUSG00000022952 Vega:OTTMUSG00000049470
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AML1; Cbfa2; Pebp2a2; Pebpa2b; CBF-alpha-2
    Orthologs
    Location:
    16 C4; 16 53.7 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 16 NC_000082.6 (92601466..92826074, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (92601711..92826311, complement)

    Chromosome 16 - NC_000082.6Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 6 Neighboring gene predicted gene, 30224 Neighboring gene predicted gene, 30281 Neighboring gene predicted gene, 41499 Neighboring gene predicted gene, 30474

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    core promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    core promoter binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    behavioral response to pain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    definitive hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemopoiesis ISO
    Inferred from Sequence Orthology
    more info
     
    hemopoiesis TAS
    Traceable Author Statement
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    liver development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myeloid cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    myeloid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of granulocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of granulocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-2 production ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of progesterone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of T cell anergy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of hair follicle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    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

    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
      Q3UM65
      Related
      ENSMUSP00000023673, OTTMUSP00000068248, ENSMUST00000023673, OTTMUST00000126110
      Conserved Domains (2) summary
      pfam00853
      Location:62196
      Runt; Runt domain
      pfam08504
      Location:372465
      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
      Conserved Domains (2) summary
      pfam00853
      Location:62195
      Runt; Runt domain
      pfam08504
      Location:308401
      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, OTTMUSP00000068250, ENSMUST00000168195, OTTMUST00000126112
      Conserved Domains (2) summary
      pfam00853
      Location:48182
      Runt; Runt domain
      pfam08504
      Location:358451
      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, OTTMUSP00000068249, ENSMUST00000113956, OTTMUST00000126111
      Conserved Domains (2) summary
      pfam00853
      Location:48181
      Runt; Runt domain
      pfam08504
      Location:294387
      RunxI; Runx inhibition domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000082.6 Reference GRCm38.p4 C57BL/6J

      Range
      92601466..92826074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)