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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:124373775-124392026 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 59.15 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    434 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098808
 protein coding gene Chr6:124373774-124392878 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031256
 protein coding gene Chr6:127651876-127670109 (-)
A/J MGP_AJ_G0031223
 protein coding gene Chr6:122787761-122806008 (-)
AKR/J MGP_AKRJ_G0031151
 protein coding gene Chr6:126170019-126188265 (-)
BALB/cJ MGP_BALBcJ_G0031231
 protein coding gene Chr6:122423264-122441910 (-)
C3H/HeJ MGP_C3HHeJ_G0030954
 protein coding gene Chr6:126238426-126256650 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031689
 protein coding gene Chr6:130963924-130983601 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028841
 protein coding gene Chr6:120093444-120095125 (-)
CAST/EiJ MGP_CASTEiJ_G0030337
 protein coding gene Chr6:126484360-126504116 (-)
CBA/J MGP_CBAJ_G0030913
 protein coding gene Chr6:136122578-136143490 (-)
DBA/2J MGP_DBA2J_G0031069
 protein coding gene Chr6:121722416-121743908 (-)
FVB/NJ MGP_FVBNJ_G0031019
 protein coding gene Chr6:120657667-120678114 (-)
LP/J MGP_LPJ_G0031150
 protein coding gene Chr6:127859236-127879234 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031057
 protein coding gene Chr6:140099860-140119388 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031720
 protein coding gene Chr6:126075001-126095307 (-)
PWK/PhJ MGP_PWKPhJ_G0030051
 protein coding gene Chr6:119972923-119991823 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029880
 protein coding gene Chr6:124211497-124229835 (-)
WSB/EiJ MGP_WSBEiJ_G0030419
 protein coding gene Chr6:126425062-126444257 (-)



Homology
more
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PEX5, peroxisomal biogenesis factor 5
  • Synonyms
    PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
  • Links
    NCBI Gene ID: 5830
    neXtProt AC: NX_P50542
    UniProt: P50542

  • Chr Location
    12p13.31; chr12:7188653-7218574 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human PEX5 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 2 alleles in 2 genetic backgrounds
    34 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 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
less
  • All GO Annotations
    73
  • GO References
    18
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
    781
  • Tissues
    38
  • cDNA Data
    112
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005069 Ensembl Gene Model | MGI Sequence Detail 18252 C57BL/6J ±  kb
    transcript ENSMUST00000035861 Ensembl | MGI Sequence Detail 3139 Not Applicable  
    polypeptide ENSMUSP00000049132 Ensembl | MGI Sequence Detail 639 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 70
      Developmental Gene Expression 4
      Gene Ontology 18
      Phenotypes 34
    • 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:335709 Wang M, et al., SIRT3 improved peroxisomes-mitochondria interplay and prevented cardiac hypertrophy via preserving PEX5 expression. Redox Biol. 2023 Mar 4;62:102652
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory