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Pbx1 Gene Detail
Summary
  • Symbol
    Pbx1
  • Name
    pre B cell leukemia homeobox 1
  • Synonyms
    2310056B04Rik, D230003C07Rik, Pbx-1, Pbx1a, Pbx1b
  • Feature Type
    protein coding gene
  • IDs
    MGI:97495
    NCBI Gene: 18514
  • Gene Overview
    MyGene.info: PBX1
Location & Maps
more
  • Sequence Map
    Chr1:168119364-168432270 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      312907 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PBX1, pre-B-cell leukemia homeobox 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PBX1, pre-B-cell leukemia homeobox 1
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 5087
    neXtProt AC: NX_P40424

  • Chr Location
    1q23; chr1:164559360-164886047 (+)  GRCh38.p2

Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    99 phenotypes from 8 alleles in 9 genetic backgrounds
    30 phenotypes from multigenic genotypes
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Chemically induced (other)
    2
  • Gene trapped
    17
  • Targeted
    10
  • Transgenic
    2
  • Genomic Mutations
    2 involving Pbx1
  • Incidental Mutations
Homozygous disruption of this gene causes late gestational death, hypoplasia/aplasia of many organs, impaired hematopoiesis, anemia, skin edema, axial and appendicular skeleton defects, absent adrenal glands, abnormal chondrocyte differentiation, and abnormal bone, kidney and pancreas development.
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000040100 VEGA Gene Model | MGI Sequence Detail 312907 C57BL/6J ±  kb
transcript OTTMUST00000104168 VEGA | MGI Sequence Detail 6876 Not Applicable  
polypeptide OTTMUSP00000058266 VEGA | MGI Sequence Detail 430 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3941 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    cDNA 23
    Primer pair 4
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-13163, MGD-MRK-13164, MGI:1917652, MGI:2138350, MGI:2138411, MGI:2444643
References
more
  • Summaries
    All 139
    Developmental Gene Expression 64
    Diseases 1
    Gene Ontology 27
    Phenotypes 39
  • Earliest
    J:13147 Kamps MP, et al., A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. Cell. 1990 Feb 23;60(4):547-55
  • Latest
    J:229533 Kouwenhoven WM, et al., Engrailed 1 shapes the dopaminergic and serotonergic landscape through proper isthmic organizer maintenance and function. Biol Open. 2016;5(3):279-88

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory