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 ty... See more...

Aliases for RUNX1 Gene

Aliases for RUNX1 Gene

  • RUNX Family Transcription Factor 1 2 3
  • Runt-Related Transcription Factor 1 2 3 4
  • Runt Related Transcription Factor 1 2 3 5
  • Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit 3 4
  • SL3/AKV Core-Binding Factor Alpha B Subunit 3 4
  • SL3-3 Enhancer Factor 1 Alpha B Subunit 3 4
  • Acute Myeloid Leukemia 1 Protein 3 4
  • Oncogene AML-1 3 4
  • PEBP2-Alpha B 3 4
  • PEA2-Alpha B 3 4
  • CBFA2 3 4
  • AML1 3 4
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2 3
  • Core-Binding Factor Subunit Alpha-2 4
  • AML1-EVI-1 Fusion Protein 3
  • Acute Myeloid Leukemia 1 2
  • Aml1 Oncogene 2
  • CBF-Alpha-2 4
  • AML1-EVI-1 3
  • PEBP2alpha 3
  • CBF2alpha 3
  • PEBP2aB 3
  • AMLCR1 3
  • EVI-1 3

External Ids for RUNX1 Gene

Previous HGNC Symbols for RUNX1 Gene

  • AML1
  • CBFA2

Previous GeneCards Identifiers for RUNX1 Gene

  • GC21M032737
  • GC21M035080
  • GC21M035081
  • GC21M036160
  • GC21M021639

Summaries for RUNX1 Gene

Entrez Gene Summary for RUNX1 Gene

  • 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]

CIViC Summary for RUNX1 Gene

  • RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.

GeneCards Summary for RUNX1 Gene

RUNX1 (RUNX Family Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include Platelet Disorder, Familial, With Associated Myeloid Malignancy and Leukemia, Acute Myeloid. Among its related pathways are Tight junction and Dual hijack model of Vif in HIV infection. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is RUNX2.

UniProtKB/Swiss-Prot Summary for RUNX1 Gene

  • Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity).
  • Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation.
  • Isoform AML-1L interferes with the transactivation activity of RUNX1.

Gene Wiki entry for RUNX1 Gene

Additional gene information for RUNX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RUNX1 Gene

Genomics for RUNX1 Gene

GeneHancer (GH) Regulatory Elements for RUNX1 Gene

Promoters and enhancers for RUNX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J035040 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 758 +958.0 958043 11.8 ZNF785 SP1 POLR2A TCF7L2 RUNX1 ZNF362 MYC CC2D1A ETV6 ELF1 RUNX1 RPS5P2 FAM243A LINC01436 RUNX1-IT1 ENSG00000234703 AY509916
GH21J035984 Promoter 0.8 EPDnew 750.4 +19.9 19937 0.1 MLX MIXL1 SP1 TFE3 CEBPG HNF1A RXRA GATAD2A RXRB SOX13 RUNX1 MEMO1P1 SETD4 piR-56341-137 piR-50767 LOC101928269
GH21J036005 Promoter 0.8 Ensembl 750.6 -0.9 -933 0.4 ZBTB40 SMARCE1 ELF1 L3MBTL2 ZNF148 ZFX ZNF740 HDAC1 MGA ZNF766 LINC01436 LOC101928269 RUNX1 lnc-RUNX1-1
GH21J035953 Enhancer 1.1 Ensembl ENCODE 11.6 +50.9 50875 1.2 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 ZNF652 RERE ELF3 RUNX1 LINC01436 CBR1 piR-50767 piR-38351-287
GH21J035593 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 +411.7 411666 2 BCL6B SP7 ZSCAN21 PRDM1 KLF14 PRDM10 ZNF639 ZNF512 ZEB2 CEBPB RUNX1 PPP1R2P2 piR-38051-175 LOC100506403
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RUNX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RUNX1 gene promoter:
  • AML1a
  • C/EBPalpha

Genomic Locations for RUNX1 Gene

Genomic Locations for RUNX1 Gene
chr21:34,787,801-36,004,667
(GRCh38/hg38)
Size:
1,216,867 bases
Orientation:
Minus strand
chr21:36,160,098-37,376,965
(GRCh37/hg19)
Size:
1,216,868 bases
Orientation:
Minus strand

Genomic View for RUNX1 Gene

Genes around RUNX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUNX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNX1 Gene

Proteins for RUNX1 Gene

  • Protein details for RUNX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01196-RUNX1_HUMAN
    Recommended name:
    Runt-related transcription factor 1
    Protein Accession:
    Q01196
    Secondary Accessions:
    • A8MV94
    • B2RMS4
    • D3DSG1
    • O60472
    • O60473
    • O76047
    • O76089
    • Q13081
    • Q13755
    • Q13756
    • Q13757
    • Q13758
    • Q13759
    • Q15341
    • Q15343
    • Q16122
    • Q16284
    • Q16285
    • Q16286
    • Q16346
    • Q16347
    • Q92479

    Protein attributes for RUNX1 Gene

    Size:
    453 amino acids
    Molecular mass:
    48737 Da
    Quaternary structure:
    • Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor heterodimerize. Interacts with TLE1 and ALYREF/THOC4 (PubMed:9119228, PubMed:9751710). Interacts with ELF1, ELF2 and SPI1 (PubMed:10207087). Interacts via its Runt domain with the ELF4 N-terminal region (PubMed:10207087). Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation (PubMed:14970218). Interacts with KAT6A and KAT6B (PubMed:11742995, PubMed:11965546). Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1 (PubMed:12917624, PubMed:16652147). Interacts with YAP1 (PubMed:18280240). Interacts with HIPK2 (By similarity). Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity. Found in a complex with PRMT5, RUNX1 AND CBFB. Interacts with FOXP3 (PubMed:17377532). Interacts with TBX21 (By similarity). Interacts with DPF2 (PubMed:28533407).
    SequenceCaution:
    • Sequence=AAC05246.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC05247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUNX1 Gene

    Alternative splice isoforms for RUNX1 Gene

neXtProt entry for RUNX1 Gene

Post-translational modifications for RUNX1 Gene

  • Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A.
  • Methylated.
  • Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes subsequent EP300 phosphorylation.
  • Ubiquitination at Lys125, Lys24, and Lys43
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RUNX1 Gene

Domains & Families for RUNX1 Gene

Gene Families for RUNX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for RUNX1 Gene

GenScript: Design optimal peptide antigens:
  • Aml1 protein (Q15342_HUMAN)
  • Aml1 protein (Q15344_HUMAN)
  • RUNX1 protein (Q2TAM6_HUMAN)
  • SL3/AKV core-binding factor alpha B subunit (RUNX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01196

UniProtKB/Swiss-Prot:

RUNX1_HUMAN :
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.
Domain:
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.
genes like me logo Genes that share domains with RUNX1: view

Function for RUNX1 Gene

Molecular function for RUNX1 Gene

UniProtKB/Swiss-Prot Function:
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation.
UniProtKB/Swiss-Prot Function:
Isoform AML-1L interferes with the transactivation activity of RUNX1.
GENATLAS Biochemistry:
Drosophila Runt pair rule-related transcription factor 1,binding to the enhancer of T cell receptor genes,involved in hematopoiesis and osteogenesis,rearranged in acute myeloid leukemia with t(8;21)(q22;q22),often associated with prior therapy t(17;21)(q11.2;q22) and others;myelodsyplasia syndrome with t(3;21)(q26;q22);acute lymphoblastic leukemia with t(12;21)(p13;q22)

Phenotypes From GWAS Catalog for RUNX1 Gene

Gene Ontology (GO) - Molecular Function for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 9199349
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 17377532
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 9199349
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with RUNX1: view
genes like me logo Genes that share phenotypes with RUNX1: view

Human Phenotype Ontology for RUNX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RUNX1 Gene

MGI Knock Outs for RUNX1:

Animal Model Products

CRISPR Products

miRNA for RUNX1 Gene

miRTarBase miRNAs that target RUNX1

Transcription Factor Targets for RUNX1 Gene

Selected GeneGlobe predicted Target genes for RUNX1
Targeted motifs for RUNX1 Gene
HOMER Transcription Factor Regulatory Elements motif RUNX1
  • Consensus sequence: AAACCACAAA Submotif: canonical Cell Type: Jurkat GEO ID: GSE29180

Clone Products

  • Addgene plasmids for RUNX1

No data available for Enzyme Numbers (IUBMB) for RUNX1 Gene

Localization for RUNX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUNX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUNX1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 7862156
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016513 core-binding factor complex TAS 18258917
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RUNX1: view

Pathways & Interactions for RUNX1 Gene

genes like me logo Genes that share pathways with RUNX1: view

SIGNOR curated interactions for RUNX1 Gene

Gene Ontology (GO) - Biological Process for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0001959 regulation of cytokine-mediated signaling pathway TAS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010629 negative regulation of gene expression TAS --
GO:0030097 hemopoiesis IBA,IDA 21873977
genes like me logo Genes that share ontologies with RUNX1: view

Drugs & Compounds for RUNX1 Gene

(10) Drugs for RUNX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for RUNX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RUNX1: view

Transcripts for RUNX1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for RUNX1

Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - - - -
SP2: - - - - - - - -
SP3: - -
SP4: -
SP5: - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10: - - - - -

Relevant External Links for RUNX1 Gene

GeneLoc Exon Structure for
RUNX1
ECgene alternative splicing isoforms for
RUNX1

Expression for RUNX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RUNX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUNX1 Gene

This gene is overexpressed in Minor Salivary Gland (x5.4).

Protein differential expression in normal tissues from HIPED for RUNX1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.0), CD8 Tcells (16.3), CD4 Tcells (12.5), and Blymphocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RUNX1 Gene



Protein tissue co-expression partners for RUNX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RUNX1 Gene:

RUNX1

SOURCE GeneReport for Unigene cluster for RUNX1 Gene:

Hs.149261

mRNA Expression by UniProt/SwissProt for RUNX1 Gene:

Q01196-RUNX1_HUMAN
Tissue specificity: Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.

Evidence on tissue expression from TISSUES for RUNX1 Gene

  • Blood(4.6)
  • Liver(4.3)
  • Bone marrow(3.5)
  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RUNX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • face
  • head
  • neck
  • nose
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • pelvis
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RUNX1: view

Orthologs for RUNX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUNX1 33 32
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RUNX1 33 32
  • 94.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RUNX1 33 32
  • 93.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Runx1 17 33 32
  • 91.47 (n)
rat
(Rattus norvegicus)
Mammalia Runx1 32
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia RUNX1 33
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX1 33
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RUNX1 33
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX1 33
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx1 32
  • 78.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69003 32
zebrafish
(Danio rerio)
Actinopterygii RUNX1 (2 of 2) 33
  • 84 (a)
OneToMany
runx1 33 32 32
  • 76.44 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1379 34
  • 74 (a)
CG15455 34
  • 73 (a)
run 33 34
  • 21 (a)
ManyToMany
RunxA 33
  • 18 (a)
ManyToMany
RunxB 33
  • 17 (a)
ManyToMany
lz 33 34
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rnt-1 33
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 65 (a)
OneToMany
Species where no ortholog for RUNX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RUNX1 Gene

ENSEMBL:
Gene Tree for RUNX1 (if available)
TreeFam:
Gene Tree for RUNX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RUNX1: view image

Paralogs for RUNX1 Gene

Paralogs for RUNX1 Gene

(6) SIMAP similar genes for RUNX1 Gene using alignment to 9 proteins:

  • RUNX1_HUMAN
  • A8MZI9_HUMAN
  • C9JWM1_HUMAN
  • F5H139_HUMAN
  • H9KVB1_HUMAN
  • Q2TAM6_HUMAN
  • U5P039_HUMAN
  • V9GYT3_HUMAN
  • V9GYT5_HUMAN
genes like me logo Genes that share paralogs with RUNX1: view

Variants for RUNX1 Gene

Sequence variations from dbSNP and Humsavar for RUNX1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1017287894 uncertain-significance, Familial platelet disorder with associated myeloid malignancy 34,792,496(-) G/A/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1056623039 uncertain-significance, Familial platelet disorder with associated myeloid malignancy 34,799,419(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057519748 likely-pathogenic, Acute myeloid leukemia 34,859,486(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1057519749 likely-pathogenic, Acute myeloid leukemia 34,880,579(-) C/A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519750 likely-pathogenic, Acute myeloid leukemia 34,880,580(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RUNX1 Gene

Variant ID Type Subtype PubMed ID
dgv7825n54 CNV loss 21841781
dgv7826n54 CNV gain+loss 21841781
dgv7827n54 CNV gain 21841781
dgv7828n54 CNV gain+loss 21841781
dgv7829n54 CNV loss 21841781
esv1317413 CNV deletion 17803354
esv2111887 CNV deletion 18987734
esv24723 CNV loss 19812545
esv2483923 CNV deletion 19546169
esv2572743 CNV deletion 19546169
esv2672921 CNV deletion 23128226
esv2723370 CNV deletion 23290073
esv2723371 CNV deletion 23290073
esv2723372 CNV deletion 23290073
esv2723374 CNV deletion 23290073
esv2723375 CNV deletion 23290073
esv2723376 CNV deletion 23290073
esv2723377 CNV deletion 23290073
esv2763252 CNV loss 21179565
esv3368843 CNV insertion 20981092
esv3382036 CNV insertion 20981092
esv34068 CNV loss 18971310
esv3557663 CNV deletion 23714750
esv3557664 CNV deletion 23714750
esv3568160 CNV loss 25503493
esv3646928 CNV loss 21293372
esv3646929 CNV loss 21293372
esv3646930 CNV gain 21293372
nsv1059864 CNV loss 25217958
nsv1065948 CNV gain 25217958
nsv1072598 CNV deletion 25765185
nsv1112361 CNV deletion 24896259
nsv1118932 CNV deletion 24896259
nsv1139019 CNV deletion 24896259
nsv472648 CNV novel sequence insertion 20440878
nsv474563 CNV novel sequence insertion 20440878
nsv482991 CNV gain 15286789
nsv523592 CNV loss 19592680
nsv525427 CNV loss 19592680
nsv587430 CNV loss 21841781
nsv587431 CNV gain 21841781
nsv587437 CNV loss 21841781
nsv587442 CNV loss 21841781
nsv587446 CNV gain+loss 21841781
nsv953357 CNV duplication 24416366

Variation tolerance for RUNX1 Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RUNX1 Gene

Human Gene Mutation Database (HGMD)
RUNX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUNX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNX1 Gene

Disorders for RUNX1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for RUNX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RUNX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RUNX1_HUMAN
  • Note=A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1.
  • Note=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM.
  • Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM.
  • Note=A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H.
  • Note=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein.
  • Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]: Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. {ECO:0000269 PubMed:10508512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.
  • Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16.
  • Note=A chromosomal aberration involving RUNX1/AML1 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with CBFA2T2. {ECO:0000269 PubMed:20520637}.

Additional Disease Information for RUNX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RUNX1: view

No data available for Genatlas for RUNX1 Gene

Publications for RUNX1 Gene

  1. Cdk6 blocks myeloid differentiation by interfering with Runx1 DNA binding and Runx1-C/EBPalpha interaction. (PMID: 17431401) Fujimoto T … Nerlov C (The EMBO journal 2007) 3 4 23 56
  2. LRP16 is fused to RUNX1 in monocytic leukemia cell line with t(11;21)(q13;q22). (PMID: 17532767) Imagama S … Naoe T (European journal of haematology 2007) 3 4 23 56
  3. Isoforms of the Ets transcription factor NERF/ELF-2 physically interact with AML1 and mediate opposing effects on AML1-mediated transcription of the B cell-specific blk gene. (PMID: 14970218) Cho JY … Libermann TA (The Journal of biological chemistry 2004) 3 4 23 56
  4. A novel transcript encoding an N-terminally truncated AML1/PEBP2 alphaB protein interferes with transactivation and blocks granulocytic differentiation of 32Dcl3 myeloid cells. (PMID: 9199349) Zhang YW … Ito Y (Molecular and cellular biology 1997) 3 4 23 56
  5. AML1 fusion transcripts in t(3;21) positive leukemia: evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal AML1 transcripts. (PMID: 7533526) Sacchi N … Hagemeijer A (Genes, chromosomes & cancer 1994) 3 4 23 56

Products for RUNX1 Gene