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Prrx1 Gene Detail
Summary
  • Symbol
    Prrx1
  • Name
    paired related homeobox 1
  • Synonyms
    A230024N07Rik, K-2, mHox, mHox, Pmx1, Prx1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97712
    NCBI Gene: 18933
  • Gene Overview
    MyGene.info: PRRX1
Location & Maps
more
  • Sequence Map
    Chr1:163245119-163313710 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68592 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 70.53 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    PRRX1, paired related homeobox 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PRRX1, paired related homeobox 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AGOTC, PHOX1, PMX1, PRX1, PRX-1
  • Links
    NCBI Gene ID: 5396
    neXtProt AC: NX_P54821

  • Chr Location
    1q24; chr1:170662728-170739419 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7896
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: PRRX1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PRRX1 associations

Human Disease Mouse Models
       Agnathia-Otocephaly Complex; AGOTC   OMIM: 202650
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 4 alleles in 5 genetic backgrounds
    83 phenotypes from multigenic genotypes
    17 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
    10
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Targeted
    6
  • Genomic Mutations
    2 involving Prrx1
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality.
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037738 VEGA Gene Model | MGI Sequence Detail 68592 C57BL/6J ±  kb
transcript OTTMUST00000097461 VEGA | MGI Sequence Detail 4952 Not Applicable  
polypeptide OTTMUSP00000054664 VEGA | MGI Sequence Detail 245 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    595 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 128
    Genomic 6
    cDNA 113
    Primer pair 7
    Other 2

    Microarray probesets 9
Other
Accession IDs
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MGD-MRK-13532, MGI:2138130, MGI:2138219, MGI:2138338, MGI:2441785
References
more
  • Summaries
    All 109
    Developmental Gene Expression 61
    Gene Ontology 14
    Phenotypes 17
  • Earliest
    J:3255 Kern MJ, et al., A novel murine homeobox gene isolated by a tissue specific PCR cloning strategy. Nucleic Acids Res. 1992 Oct 11;20(19):5189-95
  • Latest
    J:212419 Lours-Calet C, et al., Evolutionarily conserved morphogenetic movements at the vertebrate head-trunk interface coordinate the transport and assembly of hypopharyngeal structures. Dev Biol. 2014 Jun 15;390(2):231-46

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
05/24/2016
MGI 6.04
The Jackson Laboratory