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Gbx1 Gene Detail
Summary
  • Symbol
    Gbx1
  • Name
    gastrulation brain homeobox 1
  • Synonyms
    Gbx-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95667
    NCBI Gene: 231044
Location & Maps
more
  • Sequence Map
    Chr5:24502757-24527202 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24446 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 11.93 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    GBX1, gastrulation brain homeobox 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    GBX1, gastrulation brain homeobox 1
    Orthology source: HomoloGene
  • Synonyms
    Huh-17
  • Links
    NCBI Gene ID: 2636
    neXtProt AC: NX_Q14549

  • Chr Location
    7q36.1; chr7:151146738-151167548 (-)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 4 alleles in 4 genetic backgrounds
    5 images
    18 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    6
  • Genomic Mutations
    4 involving Gbx1
Mice homozygous for null alleles exhibit abnormal locomotor behavior affecting hindlimbs and neuron abnormalities. Neuronal abnormalities have been reported in some mice for motor neurons and GABAergic neurons and for proprioceptive sensory axons.
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 OTTMUSG00000024202 VEGA Gene Model | MGI Sequence Detail 24446 C57BL/6J ±  kb
transcript OTTMUST00000059222 VEGA | MGI Sequence Detail 3475 Not Applicable  
polypeptide OTTMUSP00000028788 VEGA | MGI Sequence Detail 418 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    215 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 12
    Genomic 1
    cDNA 8
    Primer pair 2
    Other 1

    Microarray probesets 1
Other
Accession IDs
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MGD-MRK-10010, MGD-MRK-10012
References
more
  • Summaries
    All 45
    Developmental Gene Expression 17
    Diseases 1
    Gene Ontology 4
    Phenotypes 18
  • Earliest
    J:2276 Murtha MT, et al., Detection of homeobox genes in development and evolution. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10711-5
  • Latest
    J:224836 Hoch RV, et al., OTX2 Transcription Factor Controls Regional Patterning within the Medial Ganglionic Eminence and Regional Identity of the Septum. Cell Rep. 2015 Jul 21;12(3):482-94

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
06/22/2016
MGI 6.04
The Jackson Laboratory