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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
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
Homology
more
  • Human Ortholog
    PAX1, paired box 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PAX1, paired box 1
    Orthology source: HomoloGene
  • Synonyms
    HUP48, OFC2
  • Links
    NCBI Gene ID: 5075
    neXtProt AC: NX_P15863

  • Chr Location
    20p11.2; chr20:21705659-21718486 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PAX1 associations

Human Disease Mouse Models
       Otofaciocervical Syndrome 2; OTFCS2   OMIM: 615560
Click on a disease name to see all genes associated with that disease.

  • 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
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
    15
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    5
  • Targeted
    7
  • Genomic Mutations
    2 involving Pax1
  • Incidental Mutations
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
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
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
Interactions
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Sequences &
Gene Models
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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
less
  • SNPs within 2kb
    365 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 63
    Genomic 15
    cDNA 20
    Primer pair 3
    Other 25

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10643, MGD-MRK-13144, MGD-MRK-13153, MGD-MRK-15355, MGD-MRK-15463
References
more
  • Summaries
    All 272
    Developmental Gene Expression 182
    Diseases 1
    Gene Ontology 9
    Phenotypes 45
  • Earliest
    J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1:367-372
  • Latest
    J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory