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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
  • Gene Overview
    MyGene.info: PEX5
  • Alliance
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
  • Genetic Map
    Chromosome 6, 59.15 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
  • Links
    NCBI Gene ID: 5830
    neXtProt AC: NX_P50542
    UniProt: P50542

  • Chr Location
    12p13.31; chr12:7188072-7218574 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 2 alleles in 2 genetic backgrounds
    26 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 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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell 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 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
      30 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR024113 Peroxisomal targeting signal 1 receptor
      IPR024111 Peroxisomal targeting signal 1 receptor family
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
      IPR013026 Tetratricopeptide repeat-containing domain
    Molecular
    Reagents
    less
    • All nucleic 113
      Genomic 1
      cDNA 112

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-28134, MGI:104840, MGI:2141665
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 3
      Gene Ontology 16
      Phenotypes 26
    • 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:257091 Kleinecke S, et al., Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy. Elife. 2017 May 4;6

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory