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    RUNX1 runt related transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 861, updated on 19-Mar-2017
    Official Symbol
    RUNX1provided by HGNC
    Official Full Name
    runt related transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:10471
    See related
    Ensembl:ENSG00000159216 MIM:151385; Vega:OTTHUMG00000086299
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AML1; CBFA2; EVI-1; AMLCR1; PEBP2aB; CBF2alpha; AML1-EVI-1; PEBP2alpha
    Summary
    Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    21q22.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (34787801..35049334, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (36160098..36421595, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985515 Neighboring gene long intergenic non-protein coding RNA 160 Neighboring gene long intergenic non-protein coding RNA 1426 Neighboring gene uncharacterized LOC102724584 Neighboring gene RUNX1 intronic transcript 1 Neighboring gene uncharacterized LOC100506403 Neighboring gene ribosomal protein L34 pseudogene 3 Neighboring gene enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial platelet disorder with associated myeloid malignancy
    MedGen: C1832388 OMIM: 601399 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-14)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
    NHGRI GWA Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    NHGRI GWA Catalog
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    NHGRI GWA Catalog
    Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif modulates cellular gene expression with RUNX1-associated regulatory domains PubMed
    vif The binding of HIV-1 Vif to CBF-beta is mutually exclusive of endogenous RUNX transcriptional factors in cells. Vif inhibits transcription of a RUNX1 reporter gene by competition with CBF-beta PubMed
    vif The C-terminal tail (residues 131-182) of CBFbeta is dispensable for both Vif-induced A3G degradation and RUNX1-mediated gene transcription PubMed
    vif CBFbeta1-130, but not CBFbeta1-126, can fully support RUNX1-mediated gene transcription, indicating CBFbeta acts through different domains in its interaction with Vif and RUNX1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Acute myeloid leukemia, organism-specific biosystem (from KEGG)
      Acute myeloid leukemia, organism-specific biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
    • Acute myeloid leukemia, conserved biosystem (from KEGG)
      Acute myeloid leukemia, conserved biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Dual hijack model of Vif in HIV infection, organism-specific biosystem (from WikiPathways)
      Dual hijack model of Vif in HIV infection, organism-specific biosystemBy hijacking CBF-b, Vif is manipulating the ubquitination machinery and adversely effecting host transcriptional regulation. Vif: Viral infectivity factor, HIV protein.
    • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
    • Organic cation transport, organism-specific biosystem (from REACTOME)
      Organic cation transport, organism-specific biosystemThe organic cation transporters comprise three SLC22 members, OCT1-3. They can transport a wide range of organic cations including weak bases. All transport by OCTs is electrogenic, sodium-independen...
    • Organic cation/anion/zwitterion transport, organism-specific biosystem (from REACTOME)
      Organic cation/anion/zwitterion transport, organism-specific biosystemThe SLC22 gene family of solute carriers function as organic cation transporters (OCTs), cation/zwitterion transporters (OCTNs) and organic anion transporters (OATs). The SLC22 family belongs to the ...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
      Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hematopoietic stem cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    hemopoiesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    peripheral nervous system neuron development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of granulocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    runt-related transcription factor 1
    Names
    AML1-EVI-1 fusion protein
    CBF-alpha-2
    PEA2-alpha B
    PEBP2-alpha B
    RUNX1/ZNF687 fusion
    SL3-3 enhancer factor 1 alpha B subunit
    SL3/AKV core-binding factor alpha B subunit
    acute myeloid leukemia 1 protein
    core-binding factor, runt domain, alpha subunit 2
    oncogene AML-1
    polyomavirus enhancer-binding protein 2 alpha B subunit

    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.

    Genomic

    1. NG_011402.2 RefSeqGene

      Range
      940414..1201911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_482

    mRNA and Protein(s)

    1. NM_001001890.2NP_001001890.1  runt-related transcription factor 1 isoform AML1b

      See identical proteins and their annotated locations for NP_001001890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (AML1b) is shorter and has a distinct N-terminus compared to isoform AML1c.
      Source sequence(s)
      AP000330, D43968
      Consensus CDS
      CCDS42922.1
      UniProtKB/Swiss-Prot
      Q01196
      Related
      ENSP00000340690, OTTHUMP00000108696, ENST00000344691, OTTHUMT00000194230
      Conserved Domains (2) summary
      pfam00853
      Location:58179
      Runt; Runt domain
      pfam08504
      Location:362453
      RunxI; Runx inhibition domain
    2. NM_001122607.1NP_001116079.1  runt-related transcription factor 1 isoform AML1a

      See identical proteins and their annotated locations for NP_001116079.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region as well as the 3' UTR and coding region compared to variant 1. The resulting isoform (AML1a) is shorter and has distinct N- and C-termini compared to isoform AML1c.
      Source sequence(s)
      D43967
      Consensus CDS
      CCDS46646.1
      UniProtKB/Swiss-Prot
      Q01196
      Related
      ENSP00000351123, OTTHUMP00000108699, ENST00000358356, OTTHUMT00000194234
      Conserved Domains (1) summary
      pfam00853
      Location:58179
      Runt; Runt domain
    3. NM_001754.4NP_001745.2  runt-related transcription factor 1 isoform AML1c

      See identical proteins and their annotated locations for NP_001745.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest isoform (AML1c).
      Source sequence(s)
      AP000330, BM149149, D43969, D89789
      Consensus CDS
      CCDS13639.1
      UniProtKB/Swiss-Prot
      Q01196
      Related
      ENSP00000409227, ENST00000437180
      Conserved Domains (2) summary
      pfam00853
      Location:85206
      Runt; Runt domain
      pfam08504
      Location:389480
      RunxI; Runx inhibition domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      34787801..35049334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529768.2XP_011528070.1  runt-related transcription factor 1 isoform X6

      Conserved Domains (2) summary
      pfam00853
      Location:72192
      Runt; Runt domain
      pfam08504
      Location:312403
      RunxI; Runx inhibition domain
    2. XM_011529767.2XP_011528069.1  runt-related transcription factor 1 isoform X3

      See identical proteins and their annotated locations for XP_011528069.1

      Conserved Domains (2) summary
      pfam00853
      Location:72193
      Runt; Runt domain
      pfam08504
      Location:376467
      RunxI; Runx inhibition domain
    3. XM_005261069.4XP_005261126.1  runt-related transcription factor 1 isoform X5

      Conserved Domains (2) summary
      pfam00853
      Location:85205
      Runt; Runt domain
      pfam08504
      Location:325416
      RunxI; Runx inhibition domain
    4. XM_011529766.2XP_011528068.1  runt-related transcription factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011528068.1

      UniProtKB/Swiss-Prot
      Q01196
      Related
      ENSP00000300305, OTTHUMP00000108697, ENST00000300305, OTTHUMT00000194231
      Conserved Domains (2) summary
      pfam00853
      Location:85206
      Runt; Runt domain
      pfam08504
      Location:389480
      RunxI; Runx inhibition domain
    5. XM_005261068.3XP_005261125.1  runt-related transcription factor 1 isoform X2

      See identical proteins and their annotated locations for XP_005261125.1

      UniProtKB/Swiss-Prot
      Q01196
      Conserved Domains (2) summary
      pfam00853
      Location:73194
      Runt; Runt domain
      pfam08504
      Location:377468
      RunxI; Runx inhibition domain
    6. XM_017028487.1XP_016883976.1  runt-related transcription factor 1 isoform X4

    7. XM_011529770.2XP_011528072.1  runt-related transcription factor 1 isoform X7

      Conserved Domains (1) summary
      pfam00853
      Location:85206
      Runt; Runt domain

    RNA

    1. XR_937576.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      35722384..35983819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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