About   Help   FAQ
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
    gene page
  • Transcription Start Sites
    10 TSS
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
    18
  • 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 MGP_129S1SvImJ_G0026604
 protein coding gene Chr2:151642453-151675944 (+)
A/J MGP_AJ_G0026568
 protein coding gene Chr2:145480113-145512314 (+)
AKR/J MGP_AKRJ_G0026542
 protein coding gene Chr2:149731989-149762458 (+)
BALB/cJ MGP_BALBcJ_G0026580
 protein coding gene Chr2:145911742-145942874 (+)
C3H/HeJ MGP_C3HHeJ_G0026323
 protein coding gene Chr2:150176252-150207950 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027025
 protein coding gene Chr2:156073163-156104854 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024403
 protein coding gene Chr2:139523773-139553810 (+)
CAST/EiJ MGP_CASTEiJ_G0025784
 protein coding gene Chr2:150551585-150586618 (+)
CBA/J MGP_CBAJ_G0026303
 protein coding gene Chr2:161773863-161804581 (+)
DBA/2J MGP_DBA2J_G0026437
 protein coding gene Chr2:144741511-144774803 (+)
FVB/NJ MGP_FVBNJ_G0026401
 protein coding gene Chr2:143277414-143310287 (+)
LP/J MGP_LPJ_G0026541
 protein coding gene Chr2:151773729-151806583 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026421
 protein coding gene Chr2:165895892-165927719 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027080
 protein coding gene Chr2:149678399-149710128 (+)
PWK/PhJ MGP_PWKPhJ_G0025520
 protein coding gene Chr2:144437544-144469332 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025321
 protein coding gene Chr2:148661935-148692691 (+)
WSB/EiJ MGP_WSBEiJ_G0025858
 protein coding gene Chr2:150625476-150659255 (+)



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
    neXtProt AC: NX_P15863
    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
    47 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
    29
  • GO References
    12
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
    1652
  • Tissues
    315
  • cDNA Data
    21
  • Literature Summary
    206
  • 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 99
      Genomic 15
      cDNA 29
      Primer pair 10
      Other 45

      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 306
      Developmental Gene Expression 206
      Diseases 1
      Gene Ontology 12
      Phenotypes 47
    • Earliest
      J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1(3):367-372
    • Latest
      J:346374 Ushiki A, et al., Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 8;43(3):113907
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory