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Runx1 Gene Detail
Summary
  • Symbol
    Runx1
  • Name
    runt related transcription factor 1
  • Synonyms
    AML1, Cbfa2, Pebp2a2, runt domain, alpha subunit 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:99852
    NCBI Gene: 12394
  • Gene Overview
    MyGene.info: RUNX1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:92601466-92826149 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      224684 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 53.70 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    RUNX1, runt related transcription factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RUNX1, runt related transcription factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
  • Links
    NCBI Gene ID: 861
    neXtProt AC: NX_Q01196
    UniProt: Q01196

  • Chr Location
    21q22.12; chr21:34787801-35049334 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    150 phenotypes from 40 alleles in 30 genetic backgrounds
    55 phenotypes from multigenic genotypes
    1 images
    181 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    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 sequence
    Polymorphisms
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    • SNPs within 2kb
      1118 from dbSNP Build 142
    • RFLP
    Protein
    Information
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    Molecular
    Reagents
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    • All nucleic 58
      Genomic 2
      cDNA 36
      Primer pair 18
      Other 2

      Microarray probesets 9
    Other
    Accession IDs
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    MGD-MRK-16643, MGD-MRK-33691, MGI:2146437
    References
    more
    • Summaries
      All 427
      Developmental Gene Expression 160
      Gene Ontology 29
      Phenotypes 181
    • 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:260461 Lie-A-Ling M, et al., Regulation of RUNX1 dosage is crucial for efficient blood formation from hemogenic endothelium. Development. 2018 Mar 12;145(5)

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory