Human Gene RUNX1 (uc002yut.1) Description and Page Index
  Description: Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 1, mRNA.
RefSeq Summary (NM_001754): 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].
Transcript (Including UTRs)
   Position: hg19 chr21:36,259,140-37,357,047 Size: 1,097,908 Total Exon Count: 11 Strand: -

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesModel Information
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr21:36,259,140-37,357,047)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
HGNCLynxPubMedStanford SOURCEWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RUNX1
CDC HuGE Published Literature: RUNX1
Positive Disease Associations: asthma , Bilirubin , Esophageal Neoplasms , Leukemia, Myeloid, Acute , myeloblastic leukemias , Phospholipids , Stroke , Vitamin D
Related Studies:
  1. asthma
    Chae, S. C. et al. 2006, Putative association of RUNX1 polymorphisms with IgE levels in a Korean population, Exp Mol Med 2006 38(5) 583-8. [PubMed 17079875]
  2. Bilirubin
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  3. Esophageal Neoplasms
    Chen Wu et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations., Nature genetics. [PubMed 21642993]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RUNX1
Diseases sorted by gene-association score: platelet disorder, familial, with associated myeloid malignancy* (1550), familial platelet disorder with propensity to acute myelogenous leukemia* (500), isolated delta-storage pool disease* (350), acute myeloid leukemia with t(8;21)(q22;q22) translocation* (350), leukemia, acute myeloid* (189), leukemia, acute lymphoblastic 3* (101), myeloid leukemia (92), leukemia (51), lymphoblastic leukemia (28), blood platelet disease (22), acute leukemia (22), leukemia, chronic myeloid, somatic* (22), b-cell childhood acute lymphoblastic leukemia (20), acute lymphoblastic leukemia, childhood (20), hematologic cancer (20), childhood leukemia (14), megakaryocytic leukemia (14), chronic myelomonocytic leukemia (14), myelodysplastic syndrome (13), refractory anemia (11), hermansky-pudlak syndrome 9 (10), tetrasomy 21 (10), atypical chronic myeloid leukemia (10), chronic myelocytic leukemia (9), acute lymphocytic leukemia (9), juvenile myelomonocytic leukemia (9), core binding factor acute myeloid leukemia (8), 8p11 myeloproliferative syndrome (8), central nervous system leukemia (7), lymphoid leukemia (7), bone marrow cancer (6), acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (5), gastric cancer, somatic (5), leukemia, acute lymphoblastic (5), aleukemic leukemia cutis (5), down syndrome (3), autosomal dominant disease (3), leukemia, acute promyelocytic, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.35 RPKM in Minor Salivary Gland
Total median expression: 125.74 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Descriptions from all associated GenBank mRNAs
  AK123035 - Homo sapiens cDNA FLJ41039 fis, clone KIDNE2017052.
D43968 - Homo sapiens mRNA for AML1b protein, complete cds.
D43969 - Homo sapiens mRNA for AML1c protein, complete cds.
X79549 - H.sapiens AML1 mRNA.
D89788 - Homo sapiens mRNA for AML1, complete cds.
D89789 - Homo sapiens mRNA for AML1, complete cds.
D89790 - Homo sapiens mRNA for AML1, complete cds.
L34598 - Homo sapiens (clone PEBP2aB) aml1 (acute myeloid leukemia 1) oncogene (AML1) mRNA, complete cds.
BC136381 - Homo sapiens runt-related transcription factor 1, mRNA (cDNA clone MGC:167991 IMAGE:9020368), complete cds.
BC144053 - Homo sapiens runt-related transcription factor 1, mRNA (cDNA clone MGC:177590 IMAGE:9052573), complete cds.
BC136380 - Homo sapiens runt-related transcription factor 1, mRNA (cDNA clone MGC:167990 IMAGE:9020367), complete cds.
AK226159 - Homo sapiens mRNA for runt-related transcription factor 1 isoform a variant, clone: sh03053.
U19601 - Homo sapiens AML-1B (AML-1B) mRNA, complete cds.
KJ890835 - Synthetic construct Homo sapiens clone ccsbBroadEn_00229 RUNX1 gene, encodes complete protein.
AB384992 - Synthetic construct DNA, clone: pF1KB4846, Homo sapiens RUNX1 gene for runt-related transcription factor 1, complete cds, without stop codon, in Flexi system.
BC110828 - Homo sapiens runt-related transcription factor 1, mRNA (cDNA clone IMAGE:5585236), partial cds.
S60998 - AML1=acute myeloid leukemia {alternatively spliced} [human, mRNA Partial, 894 nt].
AK310587 - Homo sapiens cDNA, FLJ17629.
AF419247 - Homo sapiens AML1/USP25 fusion protein mRNA, complete cds.
KJ189471 - Homo sapiens isolate Seg111 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KJ189464 - Homo sapiens isolate Seg103 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KJ189476 - Homo sapiens isolate Seg116 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
X90979 - H.sapiens mRNA for an acute myeloid leukaemia protein (346bp).
AL832222 - Homo sapiens mRNA; cDNA DKFZp686K0736 (from clone DKFZp686K0736).
BC032403 - Homo sapiens, Similar to hypothetical protein FLJ20234, clone IMAGE:5210552, mRNA.
AF312387 - Homo sapiens clone L2 AML1/AMP19 fusion protein (AML1/AMP19 fusion) mRNA, complete cds.
D10570 - Homo sapiens AML1 mRNA for hypothetical protein, complete cds.
E05037 - cDNA sequence of human AML1,which is useful for a marker of AML.
D43967 - Homo sapiens mRNA for AML1a protein, complete cds.
L21756 - Homo sapiens acute myeloid leukemia associated protein (AML1/EAP) mRNA, complete cds.
KF305770 - Homo sapiens runt-related transcription factor 1/NDC1 transmembrane nucleoporin fusion protein (RUNX1/TMEM48 fusion) gene, complete cds.
AY004251 - Homo sapiens AML1/AMP19 fusion protein (AML1/AMP19 fusion) mRNA, complete cds.
AF312386 - Homo sapiens clone L4 AML1/AMP19 fusion protein (AML1/AMP19 fusion) mRNA, complete cds.
D13979 - Homo sapiens mRNA for AML1-MTG8 fusion protein, complete cds.
E07332 - DNA fragment including the fusion part in AML1(acute myeloleukemia)-MTG8 fusion DNA.
EU364772 - Homo sapiens AML1 translocation breakpoint mRNA sequence.
EU093088 - Homo sapiens RUNX1/ZNF687 fusion mRNA, partial sequence.
AK310646 - Homo sapiens cDNA, FLJ17688.
KF041488 - Homo sapiens RUNX1-SV2B fusion transcript 1 mRNA, partial sequence.
JD304858 - Sequence 285882 from Patent EP1572962.
JD435388 - Sequence 416412 from Patent EP1572962.
JD529901 - Sequence 510925 from Patent EP1572962.
JD342369 - Sequence 323393 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05200 - Pathways in cancer
hsa05220 - Chronic myeloid leukemia
hsa05221 - Acute myeloid leukemia

-  Other Names for This Gene
  Alternate Gene Symbols: AK123035
UCSC ID: uc002yut.1
RefSeq Accession: NM_001754

-  Gene Model Information
category: nearCoding nonsense-mediated-decay: no RNA accession: AK123035.1
exon count: 11CDS single in 3' UTR: no RNA size: 1778
ORF size: 0CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 276.50frame shift in genome: no % Coverage: 74.02
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.