About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    41 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:92398354-92622962 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 53.70 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6260 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99852
 protein coding gene Chr16:92398354-92623037 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023059
 protein coding gene Chr16:93693660-93925879 (-)
A/J MGP_AJ_G0023027
 protein coding gene Chr16:89309533-89537968 (-)
AKR/J MGP_AKRJ_G0022997
 protein coding gene Chr16:92039486-92265430 (-)
BALB/cJ MGP_BALBcJ_G0023029
 protein coding gene Chr16:89837131-90062347 (-)
C3H/HeJ MGP_C3HHeJ_G0022790
 protein coding gene Chr16:92571899-92804254 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023476
 protein coding gene Chr16:96689897-96922980 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020978
 protein coding gene Chr16:86994811-87219330 (-)
CAST/EiJ MGP_CASTEiJ_G0022309
 protein coding gene Chr16:93165831-93409896 (-)
CBA/J MGP_CBAJ_G0022759
 protein coding gene Chr16:100837763-101092088 (-)
DBA/2J MGP_DBA2J_G0022893
 protein coding gene Chr16:89215018-89439759 (-)
FVB/NJ MGP_FVBNJ_G0022867
 protein coding gene Chr16:88340605-88570846 (-)
LP/J MGP_LPJ_G0022963
 protein coding gene Chr16:93388787-93623980 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022888
 protein coding gene Chr16:105338329-105583287 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023494
 protein coding gene Chr16:92536739-92769805 (-)
PWK/PhJ MGP_PWKPhJ_G0022054
 protein coding gene Chr16:89414061-89643310 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021884
 protein coding gene Chr16:92111196-92342437 (-)
WSB/EiJ MGP_WSBEiJ_G0022361
 protein coding gene Chr16:92781556-93019788 (-)



Homology
more
  • Human Ortholog
    RUNX1, RUNX family transcription factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RUNX1, RUNX family transcription factor 1
  • 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; chr21:34787801-36004667 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human RUNX1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    141 phenotypes from 32 alleles in 28 genetic backgrounds
    97 phenotypes from multigenic genotypes
    1 images
    329 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
less
  • All GO Annotations
    87
  • GO References
    30
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    2087
  • Tissues
    606
  • cDNA Data
    37
  • Literature Summary
    233
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12394 NCBI Gene Model | MGI Sequence Detail 224609 C57BL/6J ±  kb
    transcript NM_001111023 RefSeq | MGI Sequence Detail 7138 ZRU/MplStud  
    polypeptide Q03347 UniProt | EBI | MGI Sequence Detail 451 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 82
      Genomic 2
      cDNA 40
      Primer pair 32
      Other 8

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-16643, MGD-MRK-33691, MGI:2146437
    References
    more
    • Summaries
      All 654
      Developmental Gene Expression 233
      Diseases 4
      Gene Ontology 30
      Phenotypes 329
    • 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:355654 Cai S, et al., Single-cell transcriptome and chromatin accessibility mapping of upper lip and primary palate fusion. J Cell Mol Med. 2024 Oct;28(19):e70128
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory