About   Help   FAQ
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

HCOP human homology predictions: RUNX1
Protein SuperFamily: runt-related transcription factor RUNX
Gene Tree: Runx1

Human
homologs
RUNX1, runt-related transcription factor 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 861
neXtProt AC: NX_Q01196

Human Synonyms: AML1, AML1-EVI-1, AMLCR1, CBFA2, EVI-1, PEBP2aB

Human Chr (Location): 21q22.3; chr21:34787801-35049310 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human RUNX1

Mutations,
alleles, and
phenotypes
All mutations/alleles(52) : Gene trapped(1) Targeted(51)
Genomic Mutations involving Runx1 (5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 407 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (63 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: (117 records)
Data Summary: Results (805)    Tissues (408)    Images (142)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 17
RNA in situ 497
In situ reporter (knock in) 166
Northern blot 32
RT-PCR 79
Nuclease S1 14
cDNA source data(33)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA RUNX1 ; Xenbase runx1 ; ZFIN runx1    NEW 
Molecular
reagents
All nucleic(55) Genomic(2) cDNA(36) Primer pair(15) Other(2)
Microarray probesets(9)
Other database
links
VEGA Gene Model OTTMUSG00000049470 (Evidence)
Ensembl Gene Model ENSMUSG00000022952 (Evidence)
Entrez Gene 12394 (Evidence)
DFCI TC1594265, TC1591308, TC1583025, TC1620137, TC1595348, TC1661556, TC1738826
DoTS DT.487746, DT.101293228, DT.91305063, DT.87048049, DT.55162597, DT.94275805, DT.91553965, DT.91328380, DT.97399906
NIA Mouse Gene Index U037315, U273994, U058005
PDB 1HJB, 1EAQ, 1EAO, 1EAN, 3WTV, 3WTU, 3WTT, 2J6W, 3WTS, 4L0Y, 3WTY, 3WTW, 3WTX, 4L0Z, 4L18, 3WU1, 1IO4, 1HJC
Consensus CDS Project CCDS28339.1, CCDS49916.1, CCDS49917.1
International Mouse Phenotyping Consortium Status Runx1
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(86) RefSeq(8) UniProt(9)
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:219373 Islam MN, et al., Runx/Cbfb signaling regulates postnatal development of granular convoluted tubule in the mouse submandibular gland. Dev Dyn. 2015 Mar;244(3):488-96
All references(326)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory