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Aliases for RUNX1 Gene

Aliases for RUNX1 Gene

  • Runt-Related Transcription Factor 1 2 3
  • CBFA2 3 4 6
  • AML1 3 4 6
  • 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
  • CBF-Alpha-2 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
  • AML1-EVI-1 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]

GeneCards Summary for RUNX1 Gene

RUNX1 (Runt-Related Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include platelet disorder, familial, with associated myeloid malignancy and familial platelet disorder with propensity to acute myelogenous leukemia. Among its related pathways are Pathways in cancer and Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is RUNX3.

UniProtKB/Swiss-Prot for RUNX1 Gene

  • CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B-dependent transcriptional activation. 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).

Gene Wiki entry for RUNX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNX1 Gene

Genomics for RUNX1 Gene

Regulatory Elements for RUNX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RUNX1 Gene

Start:
34,787,801 bp from pter
End:
36,004,667 bp from pter
Size:
1,216,867 bases
Orientation:
Minus strand

Genomic View for RUNX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with ELF1, ELF2 and SPI1. Interacts via its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation. Interacts with KAT6A and KAT6B. Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1. Interacts with YAP1. 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.
    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

Proteomics data for RUNX1 Gene at MOPED

Post-translational modifications for RUNX1 Gene

  • Methylated.
  • Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A
  • 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 Lys24, Lys43, and Lys125
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUNX1 (AML1)

No data available for DME Specific Peptides for RUNX1 Gene

Domains for RUNX1 Gene

Suggested Antigen Peptide Sequences for RUNX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q01196

UniProtKB/Swiss-Prot:

RUNX1_HUMAN :
  • Q01196
Domain:
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes
  • Contains 1 Runt domain.
genes like me logo Genes that share domains with RUNX1: view

No data available for Gene Families for RUNX1 Gene

Function for RUNX1 Gene

Molecular function for RUNX1 Gene

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)
UniProtKB/Swiss-Prot Function: CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B-dependent transcriptional activation. 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).

Gene Ontology (GO) - Molecular Function for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000975 regulatory region DNA binding IDA 21873977
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 9199349
GO:0001047 core promoter binding IDA 17377532
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IMP 9199349
GO:0003677 DNA binding IDA 12217689
genes like me logo Genes that share ontologies with RUNX1: view
genes like me logo Genes that share phenotypes with RUNX1: view

Animal Models for RUNX1 Gene

MGI Knock Outs for RUNX1:

Animal Model Products

CRISPR Products

miRNA for RUNX1 Gene

Transcription Factor Targeting for RUNX1 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX1

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for RUNX1 Gene COMPARTMENTS Subcellular localization image for RUNX1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005634 nucleus TAS 9199349
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RUNX1: view

Pathways for RUNX1 Gene

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

Pathways by source for RUNX1 Gene

1 Cell Signaling Technology pathway for RUNX1 Gene
1 R&D Systems pathway for RUNX1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Angiogenic Growth Factors in human,mouse,rat
    • Cell Lineage Identification in human,mouse,rat
    • Hematopoiesis in human,mouse,rat
    • Leukemia in human,mouse,rat
    • Notch Signaling Pathway in human,mouse,rat

Gene Ontology (GO) - Biological Process for RUNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RUNX1: view

Compounds for RUNX1 Gene

(17) Novoseek inferred chemical compound relationships for RUNX1 Gene

Compound -log(P) Hits PubMed IDs
zinc 45.6 31
retinoic acid 18.7 14
imatinib 10.3 3
proline 8.76 1
etoposide 8.38 6
genes like me logo Genes that share compounds with RUNX1: view

Transcripts for RUNX1 Gene

Unigene Clusters for RUNX1 Gene

Runt-related transcription factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX1

Primer Products

Flow Cytometry Products

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 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 (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUNX1 Gene

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

In Situ Assay Products

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 35
  • 99.86 (n)
  • 100 (a)
RUNX1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUNX1 35
  • 93.47 (n)
  • 98.12 (a)
RUNX1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUNX1 35
  • 94.31 (n)
  • 98.75 (a)
RUNX1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx1 35
  • 91.47 (n)
  • 96.34 (a)
Runx1 16
Runx1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUNX1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Runx1 35
  • 90.49 (n)
  • 95.96 (a)
chicken
(Gallus gallus)
Aves RUNX1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69003 35
tropical clawed frog
(Silurana tropicalis)
Amphibia runx1 35
  • 78.12 (n)
  • 89.96 (a)
zebrafish
(Danio rerio)
Actinopterygii runx1 35
  • 76.44 (n)
  • 81.25 (a)
runx1 36
  • 64 (a)
OneToMany
RUNX1 (2 of 2) 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lz 36
  • 15 (a)
ManyToMany
run 36
  • 21 (a)
ManyToMany
RunxA 36
  • 18 (a)
ManyToMany
RunxB 36
  • 17 (a)
ManyToMany
CG1379 37
  • 74 (a)
run 37
  • 69 (a)
CG15455 37
  • 73 (a)
lz 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea rnt-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for RUNX1:
  • 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)

Paralogs for RUNX1 Gene

Paralogs for RUNX1 Gene

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 Sequence Context AA Info Type MAF
rs14671 -- 34,788,173(-) AACAT(C/T)CTGAA utr-variant-3-prime
rs726157 -- 34,957,692(-) AATGA(C/T)TATGA intron-variant
rs734382 -- 35,006,274(-) AAACA(C/T)TGAGG intron-variant
rs734383 -- 35,006,318(-) TGCCT(A/C)CTTGA intron-variant
rs737234 -- 34,991,025(-) TGAAC(A/T)GTACG intron-variant

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

Variant ID Type Subtype PubMed ID
esv24723 CNV Loss 19812545
nsv525427 CNV Loss 19592680
esv2572743 CNV Deletion 19546169
esv2723370 CNV Deletion 23290073
esv2111887 CNV Deletion 18987734
esv2672921 CNV Deletion 23128226
esv2483923 CNV Deletion 19546169
esv2723371 CNV Deletion 23290073
esv2723372 CNV Deletion 23290073
esv2723374 CNV Deletion 23290073
esv2723375 CNV Deletion 23290073
esv1317413 CNV Deletion 17803354
esv2723376 CNV Deletion 23290073
nsv913727 CNV Loss 21882294
nsv523592 CNV Loss 19592680
esv2723377 CNV Deletion 23290073
esv34068 CNV Loss 18971310

Relevant External Links for RUNX1 Gene

HapMap Linkage Disequilibrium report
RUNX1
Human Gene Mutation Database (HGMD)
RUNX1

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

Disorders for RUNX1 Gene

(2) OMIM Diseases for RUNX1 Gene (151385)

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.

(2) University of Copenhagen DISEASES for RUNX1 Gene

(62) Novoseek inferred disease relationships for RUNX1 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 91.1 55
platelet disorder 82.5 20
myeloid leukemia 81.7 45
leukemia 81.6 139
myelodysplastic syndromes 79.6 41

Relevant External Links for RUNX1

Genetic Association Database (GAD)
RUNX1
Human Genome Epidemiology (HuGE) Navigator
RUNX1
genes like me logo Genes that share disorders with RUNX1: view

Publications for RUNX1 Gene

  1. t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. (PMID: 1720541) Miyoshi H. … Ohki M. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  2. 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
  3. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. (PMID: 7761424) Golub T.R. … Gilliland D.G. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  4. Generation of the AML1-EVI-1 fusion gene in the t(3;21)(q26;q22) causes blastic crisis in chronic myelocytic leukemia. (PMID: 8313895) Mitani K. … Hirai H. (EMBO J. 1994) 3 4 23
  5. 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 Y.-W. … Ito Y. (Mol. Cell. Biol. 1997) 3 4 23

Products for RUNX1 Gene

  • Addgene plasmids for RUNX1

Sources for RUNX1 Gene

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