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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    10 TSS
  • Regulated by
    Rr513 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr2:147203850-147216972 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 72.63 cM
  • Mapping Data
    77 experiments
Strain
Comparison
more
  • SNPs within 2kb
    419 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97485
 protein coding gene Chr2:147203845-147235215 (+)
129S1/SvImJ ENSMUSG00200029037
 protein coding gene Chr2:144316485-144329613 (+)
A/J ENSMUSG00195017085
 protein coding gene Chr2:144449354-144461825 (+)
AKR/J ENSMUSG00220043744
 protein coding gene Chr2:144025439-144038573 (+)
BALB/cJ ENSMUSG00180040570
 protein coding gene Chr2:144110961-144123424 (+)
C3H/HeJ ENSMUSG00175037945
 protein coding gene Chr2:144657853-144670319 (+)
C57BL/6NJ ENSMUSG00215032959
 protein coding gene Chr2:144166301-144179429 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024403
 protein coding gene Chr2:139523773-139553810 (+)
CAST/EiJ ENSTCUG00005040815
 protein coding gene Chr2:143301921-143314408 (+)
CBA/J ENSMUSG00210037710
 protein coding gene Chr2:144577101-144589566 (+)
DBA/2J ENSMUSG00185048011
 protein coding gene Chr2:144195181-144208307 (+)
FVB/NJ ENSMUSG00205023375
 protein coding gene Chr2:143381386-143393839 (+)
JF1/MsJ ENSUMUG00000023104
 protein coding gene Chr2:143985302-143998432 (+)
LP/J ENSMUSG00230030728
 protein coding gene Chr2:145898800-145911924 (+)
NOD/ShiLtJ ENSMUSG00190034199
 protein coding gene Chr2:144246915-144259366 (+)
NZO/HlLtJ ENSMUSG00225003417
 protein coding gene Chr2:153890958-153899049 (+)
PWK/PhJ ENSLUMG00010036027
 protein coding gene Chr2:144010782-144023278 (+)
SPRET/EiJ ENSMSPG00010024877
 protein coding gene Chr2:146493404-146504949 (+)
WSB/EiJ ENSIUOG00005040843
 protein coding gene Chr2:144016345-144028807 (+)



Homology
more
  • Human Ortholog
    PAX1, paired box 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX1, paired box 1
  • Synonyms
    HUP48, OFC2, OTFCS2
  • Links
    NCBI Gene ID: 5075
    UniProt: P15863

  • Chr Location
    20p11.22; chr20:21705659-21718481 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PAX1 associations

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    63 phenotypes from 10 alleles in 13 genetic backgrounds
    36 phenotypes from multigenic genotypes
    1 images
    50 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
less
  • All GO Annotations
    36
  • GO References
    14
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
    1616
  • Tissues
    324
  • cDNA Data
    22
  • Literature Summary
    212
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18503 NCBI Gene Model | MGI Sequence Detail 13123 C57BL/6J ±  kb
    transcript NM_008780 RefSeq | MGI Sequence Detail 2639 Not Specified  
    polypeptide P09084 UniProt | EBI | MGI Sequence Detail 446 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 108
      Genomic 15
      cDNA 31
      Primer pair 13
      Other 49
      Antibodies 2

      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 319
      Developmental Gene Expression 212
      Diseases 1
      Gene Ontology 14
      Phenotypes 50
    • Earliest
      J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1(3):367-372
    • Latest
      J:385957 Moody EC, et al., Deletion of a Pax1 Sex-Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice. JOR Spine. 2026 Jun;9:e70177
    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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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory