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Pax1 Gene Detail
Summary
  • Symbol
    Pax1
  • Name
    paired box 1
  • Synonyms
    hbs, hunchback, Pax-1, wavy tail, wt
  • Feature Type
    protein coding gene
  • IDs
    MGI:97485
    NCBI Gene: 18503
  • Gene Overview
    MyGene.info: PAX1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:147361925-147393295 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31371 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 72.63 cM
  • Mapping Data
    77 experiments
Homology
more
  • Human Ortholog
    PAX1, paired box 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PAX1, paired box 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HUP48, OFC2
  • Links
    NCBI Gene ID: 5075
    neXtProt AC: NX_P15863
    UniProt: P15863

  • Chr Location
    20p11.22; chr20:21705659-21718486 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 10 alleles in 12 genetic backgrounds
    39 phenotypes from multigenic genotypes
    1 images
    45 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.
Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000015696 VEGA Gene Model | MGI Sequence Detail 31371 C57BL/6J ±  kb
    transcript OTTMUST00000037303 VEGA | MGI Sequence Detail 2643 Not Applicable  
    polypeptide OTTMUSP00000016707 VEGA | MGI Sequence Detail 446 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      365 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 72
      Genomic 15
      cDNA 23
      Primer pair 4
      Other 30

      Microarray probesets 3
    Other
    Accession IDs
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    MGD-MRK-10643, MGD-MRK-13144, MGD-MRK-13153, MGD-MRK-15355, MGD-MRK-15463
    References
    more
    • Summaries
      All 284
      Developmental Gene Expression 188
      Diseases 1
      Gene Ontology 10
      Phenotypes 45
    • Earliest
      J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1:367-372
    • Latest
      J:239547 Sivakamasundari V, et al., A developmental transcriptomic analysis of Pax1 and Pax9 in embryonic intervertebral disc development. Biol Open. 2017 Feb 15;6(2):187-199

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory