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Pex5 Gene Detail
Summary
  • Symbol
    Pex5
  • Name
    peroxisomal biogenesis factor 5
  • Synonyms
    ESTM1, peroxisome biogenesis factor 5, PTS1R, Pxr1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098808
    NCBI Gene: 19305
Location & Maps
more
  • Sequence Map
    Chr6:124396817-124415067 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18251 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
    Orthology source: HomoloGene
  • Synonyms
    PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1
  • Links
    NCBI Gene ID: 5830
    neXtProt AC: NX_P50542

  • Chr Location
    12p13.31; chr12:7189163-7218574 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 270
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PEX5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pex5 mouse models; 2 with human PEX5 associations

Human Disease Mouse Models
       Peroxisome Biogenesis Disorder 2A (zellweger); PBD2A   OMIM: 214110 View 1 model
       Peroxisome Biogenesis Disorder 2B; PBD2B   OMIM: 202370
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
    49 phenotypes from 2 alleles in 2 genetic backgrounds
    24 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
    7
  • Gene trapped
    5
  • Targeted
    2
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023142 VEGA Gene Model | MGI Sequence Detail 18251 C57BL/6J ±  kb
transcript OTTMUST00000055931 VEGA | MGI Sequence Detail 3139 Not Applicable  
polypeptide OTTMUSP00000026838 VEGA | MGI Sequence Detail 639 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    29 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012565 peroxisomal targeting signal 1 receptor
  • InterPro Domains
    IPR024111 Peroxisomal targeting signal 1 receptor family
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR001440 Tetratricopeptide repeat 1
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
less
  • All nucleic 112
    Genomic 1
    cDNA 111

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-28134, MGI:104840, MGI:2141665
References
more
  • Summaries
    All 56
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 16
    Phenotypes 24
  • Earliest
    J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
  • Latest
    J:190874 Martens K, et al., Peroxisome deficient aP2-Pex5 knockout mice display impaired white adipocyte and muscle function concomitant with reduced adrenergic tone. Mol Genet Metab. 2012 Dec;107(4):735-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory