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RUNX1 Gene

protein-coding   GIFtS: 68
GCID: GC21M036160

Runt-Related Transcription Factor 1

(Previous name: acute myeloid leukemia 1)
(Previous symbols: AML1, CBFA2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Runt-Related Transcription Factor 11 2     Acute Myeloid Leukemia 11
AML11 2 3 5     Aml1 Oncogene1
CBFA21 2 3 5     Acute Myeloid Leukemia 1 Protein (Oncogene AML-1), Core-Binding Factor,
Alpha Subunit11
Acute Myeloid Leukemia 1 Protein2 3     AML1-EVI-12
Oncogene AML-12 3     AMLCR12
Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit2 3     EVI-12
CBF-alpha-22 3     PEBP2aB2
PEA2-Alpha B2 3     AML1-EVI-1 Fusion Protein2
PEBP2-Alpha B2 3     Core-Binding Factor, Runt Domain, Alpha Subunit 22
SL3-3 Enhancer Factor 1 Alpha B Subunit2 3     Core-Binding Factor Subunit Alpha-23
SL3/AKV Core-Binding Factor Alpha B Subunit2 3     

External Ids:    HGNC: 104711   Entrez Gene: 8612   Ensembl: ENSG000001592167   OMIM: 1513855   UniProtKB: Q011963   

Export aliases for RUNX1 gene to outside databases

Previous GC identifers: GC21M032737 GC21M035080 GC21M035081 GC21M021639


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leukemia, and acute myeloid leukemia. GO annotations related to this gene include protein homodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RUNX2.

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196
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

Gene Wiki entry for RUNX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RUNX1 gene promoter:
         AML1a   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RUNX1 promoter sequence

   Search Chromatin IP Primers for RUNX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RUNX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.12   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.12
RUNX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNX1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M036160:   GeneLoc Nature:405,311-319
Start:
36,160,098 bp from pter       21,770,223 bp from centromere
End:
37,376,965 bp from pter 21,837,636 bp from centromere
Size:
1,216,868 bases 67,414 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: D43967
genomic clones: PPQ140K16 to P499A22


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196 (See protein sequence)
Recommended Name: Runt-related transcription factor 1  
Size: 453 amino acids; 48737 Da
Subunit: 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
Caution: The fusion of AML1 with EAP in T-MDS induces a change of reading frame in the latter resulting in 17 AA
unrelated to those of EAP
Sequence caution: Sequence=AAC05246.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAC05247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for RUNX1:
1CMO (3D)        1CO1 (3D)        1E50 (3D)        1H9D (3D)        1LJM (3D)    
Secondary accessions: A8MV94 B2RMS4 D3DSG1 O60472 O60473 O76047 O76089 Q13081 Q13755 Q13756
Q13757 Q13758 Q13759 Q15341 Q15343 Q16122 Q16284 Q16285 Q16286 Q16346 Q16347 Q92479
Alternative splicing: 11 isoforms:  Q01196-1   Q01196-2   Q01196-3   Q01196-4   Q01196-5   Q01196-6   Q01196-7   Q01196-8   
Q01196-9   Q01196-10   Q01196-11   

Explore the universe of human proteins at neXtProt for RUNX1: NX_Q01196

Explore proteomics data for RUNX1 at MOPED

Post-translational modifications: 

  • Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A1
  • Methylated1
  • Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation
    promotes subsequent EP300 phosphorylation1
  • Ubiquitination2 at Lys24, Lys43, Lys125
  • Modification sites at PhosphoSitePlus

  • See RUNX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001001890.1  NP_001116079.1  NP_001745.2  

    ENSEMBL proteins: 
     ENSP00000340690   ENSP00000300305   ENSP00000477067   ENSP00000382184   ENSP00000351123  
     ENSP00000382182   ENSP00000388189   ENSP00000477072   ENSP00000405158   ENSP00000409227  
     ENSP00000319459   ENSP00000438019  

    RUNX1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RUNX1
    OriGene Protein Over-expression Lysate for RUNX1
    OriGene MassSpec for RUNX1
    OriGene Custom Protein Services for RUNX1
    GenScript Custom Purified and Recombinant Proteins Services for RUNX1
    Novus Biologicals RUNX1 Proteins
    Novus Biologicals RUNX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RUNX1

    RUNX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RUNX1
    R&D Systems Antibodies for RUNX1 (RUNX1/CBFA2)
    Cell Signaling Technology (CST) Antibodies for RUNX1  (AML1)
    OriGene Antibodies for RUNX1
    OriGene Custom Antibody Services for RUNX1
    Novus Biologicals RUNX1 Antibodies
    Abcam antibodies for RUNX1
    Cloud-Clone Corp. Antibodies for RUNX1
    ThermoFisher Antibody for RUNX1
    LSBio Antibodies in human, mouse, rat for RUNX1

    RUNX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RUNX1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RUNX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RUNX1
    Cloud-Clone Corp. CLIAs for RUNX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR012346 p53/RUNT-type_TF_DNA-bd
     IPR000040 AML1_Runt
     IPR008967 p53-like_TF_DNA-bd
     IPR016554 TF_Runt-rel_RUNX
     IPR013711 RunxI_C_dom

    Graphical View of Domain Structure for InterPro Entry Q01196

    ProtoNet protein and cluster: Q01196

    2 Blocks protein domains:
    IPB000040 Acute myeloid leukemia 1 protein signature
    IPB013711 Runx inhibition


    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
    Similarity: Contains 1 Runt domain


    RUNX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RUNX1_HUMAN, Q01196
    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

         Genatlas biochemistry entry for RUNX1:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IDA--
    GO:0003677DNA binding IDA12217689
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005509calcium ion binding IDA12217689
    GO:0005515protein binding IPI10207087
         
    RUNX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RUNX1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         Selected MGI mutant phenotypes (inferred from 40 alleles(MGI details for Runx1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  no phenotypic analysis  normal  respiratory system 

    RUNX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RUNX1: Runx1tm1Sata Runx1tm1Dow Runx1tm1.1Soga Runx1tm1Spe Runx1tm1Yg

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RUNX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RUNX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RUNX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RUNX1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for RUNX1 (see all 1397):
    AAA1,  ABCA5,  ABCD2,  ABCG5,  ABCG8,  ABI3BP,  ABT1,  ACAD8,  ACBD3,  ACBD7

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AAACCACAAA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target RUNX1:
    hsa-mir-106a-5p (MIRT003743), hsa-mir-423-5p (MIRT038069), hsa-mir-20a-5p (MIRT003742), hsa-mir-17-5p (MIRT003741)

    Block miRNA regulation of human, mouse, rat RUNX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RUNX1 (see all 152):
    hsa-miR-579 hsa-miR-631 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-200b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RUNX1
    Predesigned siRNA for gene silencing in human, mouse, rat RUNX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RUNX1

    Clone
    Products:
         
    OriGene clones in human, mouse for RUNX1 (see all 19)
    OriGene ORF clones in mouse, rat for RUNX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): RUNX1 (NM_001001890)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RUNX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RUNX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RUNX1_HUMAN, Q01196: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0005634nucleus TAS9199349
    GO:0043231intracellular membrane-bounded organelle ----

    RUNX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RUNX1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Chronic myeloid leukemia
    Chronic myeloid leukemia0.42
    2Endometrial cancer
    Acute myeloid leukemia0.40
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4TGF-beta Signaling Pathways
    TGF-beta Signaling Pathways
    5Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RUNX1
        TGF-beta Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for RUNX1
        Lymphocyte Signaling


    4 Kegg Pathways  (Kegg details for RUNX1):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Chronic myeloid leukemia
    Acute myeloid leukemia


    RUNX1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RUNX1 (see all 12): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Leukemia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RUNX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RUNX1 (Q011961, 2, 3 ENSP000003003054) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIPK2Q9H2X61, 2, 3EBI-925904,EBI-348345 MINT-2982465 MINT-2982510 MINT-2982487 MINT-2984544 I2D: score=3 
    TAL1P175421, 2, 3, ENSP000002943394EBI-925904,EBI-1753878 MINT-8142169 MINT-8142126 I2D: score=2 STRING: ENSP00000294339
    TLE1Q047241, 3, ENSP000003656824EBI-925940,EBI-711424 I2D: score=5 STRING: ENSP00000365682
    CREBBPQ927932, 3, ENSP000002623674MINT-2982685 I2D: score=1 STRING: ENSP00000262367
    ETS1P149212, 3, ENSP000003764364MINT-8142126 I2D: score=1 STRING: ENSP00000376436
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development IEA--
    GO:0002318myeloid progenitor cell differentiation IEA--
    GO:0006351transcription, DNA-templated IEA--

    RUNX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RUNX1

    Selected Novoseek inferred chemical compound relationships for RUNX1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 45.6 42 9209439 (3), 17575132 (3), 9834202 (2), 16954386 (2) (see all 23)
    retinoic acid 18.7 18 9009083 (10), 18728026 (2), 15809276 (1), 7598688 (1)
    imatinib 10.3 3 17360569 (2), 18202228 (1)
    proline 8.76 1 8668214 (1)
    etoposide 8.38 6 16434323 (2), 14761607 (2), 11157492 (1), 18183572 (1)
    tyrosine 7.47 3 16675540 (1), 16467864 (1), 16424869 (1)
    arsenite 2.05 2 17145882 (1)
    oligonucleotide 0 4 7972130 (1), 18511808 (1), 8499624 (1)
    sucrose 0 1 12850377 (1)
    threonine 0 1 8781439 (1)



    RUNX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RUNX1 gene (3 alternative transcripts): 
    NM_001001890.2  NM_001122607.1  NM_001754.4  

    Unigene Cluster for RUNX1:

    Runt-related transcription factor 1
    Hs.149261  [show with all ESTs]
    Unigene Representative Sequence: NM_001001890
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000344691(uc002yuh.3) ENST00000300305(uc010gmu.3 uc002yuk.4)
    ENST00000482318(uc002yul.1 uc002yum.1) ENST00000399240 ENST00000479325(uc002yun.1)
    ENST00000358356(uc002yuo.1) ENST00000469087(uc010gmw.1) ENST00000399237
    ENST00000467577 ENST00000455571 ENST00000475045(uc002yut.1) ENST00000416754
    ENST00000468726 ENST00000467692 ENST00000494829 ENST00000460207 ENST00000437180(uc010gmv.3 uc002yuj.4)
    ENST00000325074
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RUNX1 (see all 152):
    hsa-miR-579 hsa-miR-631 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-200b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for RUNX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): RUNX1 (NM_001001890)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX1
    Primer
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    OriGene qPCR primer pairs and template standards for RUNX1
    OriGene qSTAR qPCR primer pairs in human, mouse for RUNX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat RUNX1
      QuantiTect SYBR Green Assays in human, mouse, rat RUNX1
      QuantiFast Probe-based Assays in human, mouse, rat RUNX1

    Additional mRNA sequence: 

    AK226159.1 AK310587.1 AK310646.1 AY509915.1 AY509916.1 BC050363.1 BC110828.1 BC136380.1 
    BC136381.1 BC144053.1 D10570.1 D43967.1 D43968.1 D43969.1 D89788.1 D89789.1 
    D89790.1 GU070939.1 GU070941.1 GU070942.1 GU070943.1 L34598.1 S60998.1 S76345.1 
    S76346.1 S76350.1 U19601.1 X79549.1 X90976.1 X90977.1 X90978.1 X90979.1 
    X90980.1 X90981.1 

    16 DOTS entries:

    DT.92474126  DT.87016794  DT.100797030  DT.95364201  DT.121140186  DT.40128004  DT.95144419  DT.95228859 
    DT.95228861  DT.91995611  DT.121140195  DT.95349738  DT.40224072  DT.433898  DT.92474132  DT.95228867 

    Selected AceView cDNA sequences (see all 184):

    AI784593 AL597630 CB528673 AI368901 CA867748 X90980 AI268201 CB048237 
    AI371266 CR610970 BG676256 BQ771737 BG499973 AI798056 BX107860 AI871685 
    BG057820 S76346 BQ224165 BQ448062 AI361423 U19601 AA441820 BM469288 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1 (see all 10)    About this scheme

    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:                                                                    -     -     -                                 


    ECgene alternative splicing isoforms for RUNX1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RUNX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RUNX1 Expression
    About this image


    RUNX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 22 entries
             Prehypertrophic Chondrocytes Autopod Growth Plate
             Bone Marrow
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Prehypertrophic Chondrocytes Autopod Growth Plate
             Laryngeal Cartilage
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Blood (Cardiovascular System)    fully expand to see all 10 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells (family)
     
     Yolk Sac (Extraembryonic Tissues)    fully expand to see all 2 entries
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells (family)
    RUNX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RUNX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149261

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RUNX1 (see all 12): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Leukemia in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RUNX1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Runx11 , 5 runt related transcription factor 11, 5 91.47(n)1
    96.34(a)1
      16 (53.70 cM)5
    123941  NM_001111021.11  NP_001104491.11 
     926014675 
    chicken
    (Gallus gallus)
    Aves RUNX16
    runt-related transcription factor 1
    89(a)
    1 ↔ 1
    1(105396887-105544588)
    lizard
    (Anolis carolinensis)
    Reptilia RUNX16
    runt-related transcription factor 1
    82(a)
    1 ↔ 1
    3(142228427-142274047)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690032 hypothetical protein MGC69003 81.45(n)    BC057739.1 
    zebrafish
    (Danio rerio)
    Actinopterygii runx12 runt-related transcription factor 1 74.68(n)   58126  AF391125.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG13793 transcription factor 74(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea rnt-16
    Protein RNT-1 (rnt-1) mRNA, complete cds
    28(a)
    1 → many
    I(5776154-5788609) WBGene00004393


    ENSEMBL Gene Tree for RUNX1 (if available)
    TreeFam Gene Tree for RUNX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RUNX1 gene
    RUNX22  RUNX32  
    6 SIMAP similar genes for RUNX1 using alignment to 9 protein entries:     RUNX1_HUMAN (see all proteins):
    C20orf112/RUNX1 fusion    RUNX1/C20orf112 fusion    RUNX1/CBFA2T2 fusion    RUNX3    RUNX2    AML2

    RUNX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RUNX1 (see all 5594)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0121294
    Familial platelet disorder with associated myeloid malignancy (FPDMM)4--see VAR_0121292 R Q mis40--------
    VAR_0121284
    Familial platelet disorder with associated myeloid malignancy (FPDMM)4--see VAR_0121282 R Q mis40--------
    rs743154501,2
    Cpathogenic126778644(-) GCCCCA/GAGAAC 6 Q R mis10--------
    rs743154511,2
    Cpathogenic126799824(-) TGATGC/GCTGGC 6 P A mis10--------
    rs2006842881,2
    --21677725(+) TTCTT-/TCTTTTT 3 -- int10--------
    rs2006234141,2
    --21677726(+) TCTTT-/CTTTTT 3 -- int10--------
    rs72825801,2
    C,F--21677727(+) tctttT/Cttttt 3 -- int1 trp32Minor allele frequency- C:0.25NA WA 4
    rs113988491,2
    C--21683373(+) CCGTAG/-GGAAC 3 -- int11Minor allele frequency- -:0.00NA 2
    rs58436861,2
    C--21691913(+) CCTGGC/-CTGCG 3 -- int13Minor allele frequency- -:0.00NA CSA 6
    rs58436881,2
    C--21697898(+) AGCTAG/-GCAGG 3 -- int12Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for RUNX1 (36160098 - 36410098 bp, first 250kb of RUNX1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RUNX1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723377CNV Deletion23290073
    esv2723375CNV Deletion23290073
    esv2572743CNV Deletion19546169
    esv2723371CNV Deletion23290073
    esv1317413CNV Deletion17803354
    esv2723372CNV Deletion23290073
    esv2723374CNV Deletion23290073
    esv2111887CNV Deletion18987734
    esv2672921CNV Deletion23128226
    esv2723370CNV Deletion23290073

    Human Gene Mutation Database (HGMD): RUNX1
    Selected Site Specific Mutation Identification with PCR Assays for RUNX1 (see all 29):
    Cosmic IdAA Change
    24755p.?
    24768p.G165V
    24727p.G69R
    24771p.R201*
    24731p.R204Q
    5 Site Specific Cancer Mutation PCR Panels containing RUNX1:
    Hematopoietic Neoplasms
    Acute Myeloid Leukemia
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Myelodysplastic Syndromes
    2 Copy Number PCR Panels containing RUNX1:
    Oncogenes & Tumor Suppressor Genes 384HC
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing RUNX1
    DNA2.0 Custom Variant and Variant Library Synthesis for RUNX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 151385   
    OMIM disorders: 601626  601399  
    UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196
  • 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. 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

  • Selected diseases for RUNX1 (see all 98):    
    About MalaCards
    leukemia    acute myeloid leukemia    ring chromosome 21    familial platelet disorder with associated myeloid malignancy
    familial platelet disorder with propensity to acute myelogenous leukemia    familial myelodysplasia    myeloid leukemia    tetrasomy 21
    isolated delta-storage pool disease    acute myeloid leukemia with t(8;21)(q22;q22) translocation    refractory anemia with excess blasts    precursor b-cell acute lymphoblastic leukemia
    refractory anemia    chronic myeloid leukemia    8p11 myeloproliferative syndrome    acute undifferentiated leukemia
    core binding factor acute myeloid leukemia    cytogenetically normal acute myeloid leukemia    cleidocranial dysplasia    acute myelomonocytic leukemia

    2 diseases from the University of Copenhagen DISEASES database for RUNX1:
    Leukemia     Cleidocranial dysplasia

    RUNX1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for RUNX1 gene (see all 62)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 91.1 71 17485549 (2), 18695000 (2), 20478528 (2), 14562119 (2) (see all 51)
    platelet disorder 82.5 26 15741216 (2), 15339695 (1), 14594802 (1), 14966519 (1) (see all 19)
    myeloid leukemia 81.7 51 16995417 (3), 8643684 (3), 12461752 (2), 8585955 (2) (see all 37)
    leukemia 81.6 212 14556655 (5), 18671852 (4), 19385966 (3), 20416203 (3) (see all 99)
    myelodysplastic syndromes 79.6 47 16995417 (2), 11049997 (2), 15988144 (2), 8049440 (2) (see all 34)
    b-cell childhood acute lymphoblastic leukemia 77.4 2 17889714 (1), 8834231 (1)
    acute leukemia 75.5 49 17920312 (2), 16575471 (2), 20306249 (2), 17532767 (2) (see all 33)
    lymphoblastic leukemia acute childhood 74 14 17011991 (2), 17889714 (1), 9031076 (1), 12393286 (1) (see all 11)
    lymphoblastic leukemia acute 73.5 29 12550760 (2), 12646943 (2), 11587363 (1), 12145988 (1) (see all 24)
    blast crisis 72.2 17 8412328 (2), 9447818 (1), 11835339 (1), 8751483 (1) (see all 14)

    Genetic Association Database (GAD): RUNX1
    Human Genome Epidemiology (HuGE) Navigator: RUNX1 (45 documents)

    Export disorders for RUNX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RUNX1 gene, integrated from 10 sources (see all 876):
    (articles sorted by number of sources associating them with RUNX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AML1, AML2, and AML3, the human members of the runt domain gene- family: cDNA structure, expression, and chromosomal localization. (PubMed id 7835892)1, 2, 3 Levanon D.... Groner Y. (Genomics 1994)
    2. 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. (PubMed id 14970218)1, 2, 9 Cho J.-Y.... Libermann T.A. (J. Biol. Chem. 2004)
    3. 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. (PubMed id 7533526)1, 2, 9 Sacchi N....Hagemeijer A. (Genes Chromosomes Cancer 1994)
    4. LRP16 is fused to RUNX1 in monocytic leukemia cell line with t(11;21)(q13;q22). (PubMed id 17532767)1, 2, 9 Imagama S.... Naoe T. (Eur. J. Haematol. 2007)
    5. A novel transcript encoding an N-terminally truncated AML1/PEBP2 alphaB protein interferes with transactivation and blocks granulocytic differentiation of 32Dcl3 myeloid cells. (PubMed id 9199349)1, 2, 9 Zhang Y.-W.... Ito Y. (Mol. Cell. Biol. 1997)
    6. Cdk6 blocks myeloid differentiation by interfering with Runx1 DNA binding and Runx1-C/EBPalpha interaction. (PubMed id 17431401)1, 2, 9 Fujimoto T.... Nerlov C. (EMBO J. 2007)
    7. The 3;21 translocation in myelodysplasia results in a fusion transcript between the AML1 gene and the gene for EAP, a highly conserved protein associated with the Epstein-Barr virus small RNA EBER 1. (PubMed id 8395054)1, 2, 9 Nucifora G.... Rowley J.D. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    8. Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PubMed id 7541640)1, 2, 9 Era T.... Takatsuki K. (Genes Chromosomes Cancer 1995)
    9. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. (PubMed id 19282830)1, 4, 9 Kuo M.C....Shih L.Y. (Leukemia 2009)
    10. Genome wide molecular analysis of minimally differentiated acute myeloid leukemia. (PubMed id 19773259)1, 4, 9 Silva F.P....Giphart-Gassler M. (Haematologica 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 861 HGNC: 10471 AceView: RUNX1 Ensembl:ENSG00000159216 euGenes: HUgn861
    ECgene: RUNX1 Kegg: 861 H-InvDB: RUNX1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RUNX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RUNX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RUNX1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RUNX1 gene:
    Search GeneIP for patents involving RUNX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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