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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
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:147361918-147375049 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 72.63 cM
  • Mapping Data
    77 experiments
Strain
Comparison
more
  • SNPs within 2kb
    224 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97485
protein coding gene Chr2:147361918-147393295 (+)
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
    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
    62 phenotypes from 10 alleles in 12 genetic backgrounds
    39 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 18503 NCBI Gene Model | MGI Sequence Detail 13132 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 76
      Genomic 15
      cDNA 24
      Primer pair 5
      Other 32

      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 286
      Developmental Gene Expression 190
      Diseases 1
      Gene Ontology 10
      Phenotypes 47
    • Earliest
      J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1:367-372
    • Latest
      J:264351 Rivera-Reyes R, et al., Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins. PLoS One. 2018;13(8):e0200964

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
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    last database update
    05/14/2019
    MGI 6.14
    The Jackson Laboratory