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

Chr16:92601467-92826066 bp, - strand From Ensembl annotation of GRCm38   224600 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 rhesus macaque; 1 cattle; 1 dog; 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; chr21:36160098-36421595 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human RUNX1

Alleles and phenotypes

All alleles(45) : Targeted(44) Gene trapped(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	behavioral response to pain, central nervous system development, ...
Component	basement membrane, intracellular membrane-bounded organelle, ...
Function	ATP binding, calcium ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (98 records)
Data Summary: Results (696)    Tissues (345)    Images (104)
Theiler Stages: 8, 9, 10, 11, 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	17
RNA in situ	497
In situ reporter (knock in)	57
Northern blot	32
RT-PCR	79
Nuclease S1	14

cDNA source data(33)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(55) Genomic(2) cDNA(36) Primer pair(15) Other(2)
Microarray probesets(9)

Other database links

Ensembl Gene Model	ENSMUSG00000022952 (Evidence)
Entrez Gene	12394 (Evidence)
DFCI	TC1583025, TC1591308, TC1594265, TC1595348, TC1620137, TC1661556, TC1738826
DoTS	DT.101293228, DT.487746, DT.55162597, DT.87048049, DT.91305063, DT.91328380, DT.91553965, DT.94275805, DT.97399906
NIA Mouse Gene Index	U037315, U058005, U273994
PDB	1EAN, 1EAO, 1EAQ, 1HJB, 1HJC, 2J6W, 1IO4
Consensus CDS Project	CCDS28339.1, CCDS49916.1, CCDS49917.1
International Mouse Knockout Project Status	Runx1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000022952	Ensembl Gene Model | MGI Sequence Detail	224600	C57BL/6J
transcript	ENSMUST00000023673	Ensembl | MGI Sequence Detail	5777	Not Applicable
polypeptide	ENSMUSP00000023673	Ensembl | MGI Sequence Detail	465	Not Applicable

All sequences(62) RefSeq(8) UniProt(6)

Polymorphisms

RFLP(2) : SNPs(459 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013524	Acute myeloid leukemia 1 (AML 1)/Runt
InterPro	IPR000040	Acute myeloid leukemia 1 protein (AML 1)/Runt
InterPro	IPR008967	p53-like transcription factor, DNA-binding
InterPro	IPR012346	p53/RUNT-type transcription factor, DNA-binding domain
InterPro	IPR013711	Runx inhibition
InterPro	IPR016554	Transcription factor, Runt-related, RUNX
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:193903 Lou S, et al., Runx1 controls terminal morphology and mechanosensitivity of VGLUT3-expressing C-mechanoreceptors. J Neurosci. 2013 Jan 16;33(3):870-82
All references(284)

Other accession IDs

MGD-MRK-16643, MGD-MRK-33691, MGI:2146437