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Gene Detail
runt related transcription factor 1
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
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 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
alleles, and
All mutations/alleles(48) : Gene trapped(1) Targeted(47)
Genomic Mutations involving Runx1 (3)
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)
Runx1 interacts with 408 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (45 annotations)
Process behavioral response to pain, cellular response to transforming growth factor beta stimulus, ...
Component basement membrane, nucleus
Function ATP binding, calcium ion binding, ...
External Resources: FuncBase
Literature Summary: (105 records)
Data Summary: Results (802)    Tissues (407)    Images (139)
Theiler Stages: 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 17
RNA in situ 497
In situ reporter (knock in) 163
Northern blot 32
Nuclease S1 14
cDNA source data(33)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
All nucleic(55) Genomic(2) cDNA(36) Primer pair(15) Other(2)
Microarray probesets(9)
Other database
VEGA Gene ModelOTTMUSG00000049470 (Evidence)
Ensembl Gene ModelENSMUSG00000022952 (Evidence)
Entrez Gene12394 (Evidence)
DFCITC1583025, TC1591308, TC1594265, TC1595348, TC1620137, TC1661556, TC1738826
DoTSDT.101293228, DT.487746, DT.55162597, DT.87048049, DT.91305063, DT.91328380, DT.91553965, DT.94275805, DT.97399906
NIA Mouse Gene IndexU037315, U058005, U273994
PDB1EAN, 1EAO, 1EAQ, 1HJB, 1HJC, 2J6W, 4L0Y, 4L0Z, 1IO4, 4L18
Consensus CDS ProjectCCDS28339.1, CCDS49916.1, CCDS49917.1
International Mouse Knockout Project StatusRunx1
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(78) RefSeq(10) UniProt(6)
Polymorphisms RFLP(2) : SNPs within 2kb(1122 from dbSNP Build 137)
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:213062 Soung do Y, et al., Runx1-mediated regulation of osteoclast differentiation and function. Mol Endocrinol. 2014 Apr;28(4):546-53
All references(309)
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
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last database update
MGI 5.19
The Jackson Laboratory