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Runx1
Gene Detail
Symbol

Name
ID
Runx1
runt related transcription factor 1
MGI:99852
Synonyms
AML1, Cbfa2, Pebp2a2, runt domain, alpha subunit 2
Feature Type
protein coding gene
Genetic Map
Chromosome 16
53.70 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr16:92601466-92826149 bp, - strand
From VEGA annotation of GRCm38

  224684 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1331  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: runt-related transcription factor RUNX
Gene Tree: Runx1

Human
homologs
Human Homolog RUNX1, runt-related transcription factor 1
NCBI Gene ID 861
neXtProt AC  NX_Q01196
Human Synonyms  AML1, AML1-EVI-1, AMLCR1, CBFA2, EVI-1, PEBP2aB
Human Chr (Location)  21q22.3; chr21:34787801-35049334 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human RUNX1
Mutations,
alleles, and
phenotypes
All mutations/alleles(49) : Gene trapped(1) Targeted(48)
Genomic Mutations involving Runx1 (4)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers.
 
Phenotype Images(1)
Interactions
Runx1 interacts with 408 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process behavioral response to pain, cellular response to transforming growth factor beta stimulus, ...
Component basement membrane, cytoplasm, ...
Function ATP binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (111 records)
Data Summary: Results (802)    Tissues (407)    Images (139)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 17
RNA in situ 497
In situ reporter (knock in) 163
Northern blot 32
RT-PCR 79
Nuclease S1 14
cDNA source data(33)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) Genomic(2) cDNA(36) Primer pair(15) Other(2)
Microarray probesets(9)
Other database
links
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049470 VEGA Gene Model | MGI Sequence Detail 224684 C57BL/6J ±  kb
transcript OTTMUST00000126110 VEGA | MGI Sequence Detail 5861 Not Applicable 
polypeptide OTTMUSP00000068248 VEGA | MGI Sequence Detail 465 Not Applicable 

For the selected sequences
All sequences(93) RefSeq(10) UniProt(14)
Polymorphisms
RFLP(2) : SNPs within 2kb(1122 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000040 Acute myeloid leukemia 1 protein (AML1)/Runt
InterPro IPR008967 p53-like transcription factor, DNA-binding
InterPro IPR012346 p53/RUNT-type transcription factor, DNA-binding domain
InterPro IPR013524 Runt domain
InterPro IPR016554 Runt-related transcription factor RUNX
InterPro IPR027384 Runx, central domain
InterPro IPR013711 Runx, C-terminal domain
Protein Ontology PR:000014362 runt-related transcription factor 1
References
(Earliest) J:3972 Bae SC, et al., Isolation of PEBP2 alpha B cDNA representing the mouse homolog of human acute myeloid leukemia gene, AML1. Oncogene. 1993 Mar;8(3):809-14
(Latest) J:214813 Liakhovitskaia A, et al., Runx1 is required for progression of CD41+ embryonic precursors into HSCs but not prior to this. Development. 2014 Sep;141(17):3319-23
All references(318)
Other
accession IDs
MGD-MRK-16643, MGD-MRK-33691, MGI:2146437

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory