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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RUNX1 Gene

protein-coding   GIFtS: 67
GCID: GC21M036160

Runt-Related Transcription Factor 1

(Previous name: acute myeloid leukemia 1)
(Previous symbols: AML1, CBFA2)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ring chromosome 21, and among its related super-pathways are Pancreatic cancer and Endometrial cancer. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  NC_018932.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RUNX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
37,357,047 bp from pter 21,837,636 bp from centromere
Size:
1,196,950 bases 67,414 bases
Orientation:
minus strand minus strand

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


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus
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:

  • UniProtKB: Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A
  • UniProtKB: Methylated
  • UniProtKB: Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation
    promotes subsequent EP300 phosphorylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01196

  • RUNX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RUNX1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001001890.1  NP_001116079.1  NP_001745.2  

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

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    Novus Biologicals RUNX1 Proteins
    Novus Biologicals RUNX1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RUNX1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0005634nucleus TAS9199349
    GO:0005730NOT nucleolus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    RUNX1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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 

         15/17 MGI mutant phenotypes (inferred from 40 alleles(MGI details for Runx1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     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 - Custom generated mouse model solutions for RUNX1 
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       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 

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

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX1
    8/152 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    5Lymphocyte Signaling
    Lymphocyte Signaling

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RUNX1

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

    5/93 Interacting proteins for RUNX1 (Q011961, 2, 3 ENSP000003003054) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIPK2Q9H2X62, 3MINT-2982465 MINT-2982510 MINT-2982487 MINT-2984544 I2D: score=3 
    TAL1P175422, 3, ENSP000002943394MINT-8142169 MINT-8142126 I2D: score=2 STRING: ENSP00000294339
    ELF2Q157231, 3, ENSP000002654954EBI-925904,EBI-956941 I2D: score=4 STRING: ENSP00000265495
    TCF12Q990812, 3, ENSP000003310574MINT-8142126 I2D: score=3 STRING: ENSP00000331057
    CEBPAP497152, 3MINT-4791133 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (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-dependent IEA--

    RUNX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RUNX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RUNX1

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about RUNX1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/152 QIAGEN miScript miRNA 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
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    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 

    24/184 AceView cDNA sequences (see all 184):

    BQ772210 D43967 BF063731 AA425238 BG499973 BQ009347 AI368901 NM_001754 
    AI798056 BQ182993 CA312841 CA435741 BM469288 BQ448062 CR622321 BQ224165 
    AI685454 CA867748 BX107860 BC050363 BQ422826 BQ004414 D43968 AI371266 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RUNX1 expression in normal human tissues (normalized intensities)      RUNX1 embryonic expression: see
    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 
     5/43 selected tissues (see all 43) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 30 entries
             Chondrocytes Sacral Vertebrae
             Thoracic Rib
             HyStem+TGFbeta3+GDF5-induced E15 cells
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 24 entries
             Chondrocytes Sacral Vertebrae
             HyStem+TGFbeta3+GDF5-induced E15 cells
             skeleton/cranium/viscerocranium   
     
     Blood (Hematopoietic System)    fully expand to see all 14 entries
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
             Peripheral blood-derived hematopoietic stem cells
             lung ; macrophages   
             stem cells (umbilical cord cd34+)   
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Pons
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 7 entries
             Scapulohumeralis Posterior Muscle Motor Neurons Rostral Brachial Lateral Motor Division
             Dorsal Horn   

    See RUNX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUNX1

    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

        SABiosciences Expression via Pathway-Focused 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

    Primer
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    OriGene qPCR primer pairs and template standards for RUNX1
    OriGene qSTAR qPCR primer pairs in human, mouse for RUNX1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX1
    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RUNX1 gene from 7/14 species (see all 14)    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 91.54(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
    Uncharacterized protein
    63(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
    29(a)
    1 → many
    I(5776154-5788609)


    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)
    About This Section
    Paralogs for RUNX1 gene
    RUNX22  RUNX32  
    6 SIMAP similar genes for RUNX1 using alignment to 6 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5594 SNPs in RUNX1 are shown (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) 10/17 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
    5/29 SABiosciences Cancer Mutation PCR Assays for RUNX1 (see all 29):
    Cosmic IdAA Change
    24755p.?
    24768p.G165V
    24727p.G69R
    24771p.R201*
    24731p.R204Q
    5 SABiosciences Cancer Mutation PCR Arrays containing RUNX1:
    Hematopoietic Neoplasms
    Acute Myeloid Leukemia
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Myelodysplastic Syndromes
    2 SABiosciences qBiomarker Copy Number PCR Arrays 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/88 diseases for RUNX1 (see all 88):    About MalaCards
    leukemia    ring chromosome 21    familial platelet disorder with propensity to acute myelogenous leukemia    familial myelodysplasia
    acute myeloid leukemia with t translocation    familial platelet disorder with associated myeloid malignancy    myeloid leukemia    tetrasomy 21
    refractory anemia with excess blasts    acute myeloid leukemia    acute undifferentiated leukemia    ring chromosomes
    juvenile myelomonocytic leukemia    acute myelomonocytic leukemia    cleidocranial dysplasia    stem cell leukemia
    chronic myelomonocytic leukemia    megakaryocytic leukemia    down syndrome critical region    acute lymphoblastic leukemia

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

    RUNX1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/62 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)
    About This Section

    PubMed articles for RUNX1 gene, integrated from 9 sources (see all 865):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (2009)
    10. Genome wide molecular analysis of minimally different iated acute myeloid leukemia. (PubMed id 19773259)1, 4, 9 Silva F.P....Giphart-Gassler M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 861 HGNC: 10471 AceView: RUNX1 Ensembl:ENSG00000159216 euGenes: HUgn861
    ECgene: RUNX1 Kegg: 861 H-InvDB: RUNX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/RUNX1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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