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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
  • Alliance
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:168119364-168432264 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 75.95 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3941 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97495
protein coding gene Chr1:168119364-168432270 (-)
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
    10
  • Human Ortholog
    PBX1, PBX homeobox 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAKUHED
  • Links
    NCBI Gene ID: 5087
    neXtProt AC: NX_P40424
    UniProt: P40424

  • Chr Location
    1q23.3; chr1:164559360-164886047 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    102 phenotypes from 8 alleles in 9 genetic backgrounds
    43 phenotypes from multigenic genotypes
    48 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18514 NCBI Gene Model | MGI Sequence Detail 312901 C57BL/6J ±  kb
    transcript NM_183355 RefSeq | MGI Sequence Detail 7163 C57BL/6  
    polypeptide P41778 UniProt | EBI | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 26
      Primer pair 4
      Other 1

      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 180
      Developmental Gene Expression 82
      Diseases 3
      Gene Ontology 28
      Phenotypes 48
    • 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:276956 Sanz-Navarro M, et al., Dental Epithelial Stem Cells Express the Developmental Regulator Meis1. Front Physiol. 2019;10:249

    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)
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    Funding Information
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    last database update
    10/15/2019
    MGI 6.14
    The Jackson Laboratory