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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
  • Alliance
    gene page
  • Transcription Start Sites
    23 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:167946933-168259839 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 75.95 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8749 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_97495
 protein coding gene Chr1:167946933-168259898 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016718
 protein coding gene Chr1:173738847-174062419 (-)
A/J MGP_AJ_G0016698
 protein coding gene Chr1:166627771-166959689 (-)
AKR/J MGP_AKRJ_G0016664
 protein coding gene Chr1:171678615-172010409 (-)
BALB/cJ MGP_BALBcJ_G0016659
 protein coding gene Chr1:167118938-167435635 (-)
C3H/HeJ MGP_C3HHeJ_G0016483
 protein coding gene Chr1:171910916-172234807 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017120
 protein coding gene Chr1:179526769-179853434 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014829
 protein coding gene Chr1:158455083-158769360 (-)
CAST/EiJ MGP_CASTEiJ_G0016063
 protein coding gene Chr1:171514483-171845555 (-)
CBA/J MGP_CBAJ_G0016458
 protein coding gene Chr1:185923013-186263422 (-)
DBA/2J MGP_DBA2J_G0016564
 protein coding gene Chr1:165483661-165801693 (-)
FVB/NJ MGP_FVBNJ_G0016562
 protein coding gene Chr1:163931299-164247093 (-)
LP/J MGP_LPJ_G0016635
 protein coding gene Chr1:174801721-175133722 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016587
 protein coding gene Chr1:193265133-193596786 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017157
 protein coding gene Chr1:171555566-171878046 (-)
PWK/PhJ MGP_PWKPhJ_G0015849
 protein coding gene Chr1:164702168-165027942 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015635
 protein coding gene Chr1:170298551-170638675 (-)
WSB/EiJ MGP_WSBEiJ_G0016125
 protein coding gene Chr1:171667283-171993439 (-)



Homology
more
  • Human Ortholog
    PBX1, PBX homeobox 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PBX1, PBX homeobox 1
  • Synonyms
    CAKUHED
  • Links
    NCBI Gene ID: 5087
    neXtProt AC: NX_P40424
    UniProt: P40424

  • Chr Location
    1q23.3; chr1:164555584-164899296 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pbx1 mouse models; 1 with human PBX1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    116 phenotypes from 9 alleles in 10 genetic backgrounds
    31 phenotypes from multigenic genotypes
    53 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.
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
less
  • All GO Annotations
    75
  • GO References
    32
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
    1076
  • Tissues
    273
  • cDNA Data
    25
  • Literature Summary
    112
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000052534 Ensembl Gene Model | MGI Sequence Detail 312907 C57BL/6J ±  kb
    transcript ENSMUST00000176540 Ensembl | MGI Sequence Detail 6876 Not Applicable  
    polypeptide ENSMUSP00000135516 Ensembl | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 27
      Primer pair 10
      Other 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13163, MGD-MRK-13164, MGI:1917652, MGI:2138350, MGI:2138411, MGI:2444643
    References
    more
    • Summaries
      All 220
      Developmental Gene Expression 112
      Diseases 2
      Gene Ontology 32
      Phenotypes 53
    • 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:349843 Ning Y, et al., Transcription factor PBX4 regulates limb development and haematopoiesis in mice. Cell Prolif. 2024 May;57(5):e13580
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory