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Pex1 Gene Detail
Summary
  • Symbol
    Pex1
  • Name
    peroxisomal biogenesis factor 1
  • Synonyms
    5430414H02Rik, E330005K07Rik, peroxisome biogenesis factor 1, ZWS1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918632
    NCBI Gene: 71382
  • Gene Overview
    MyGene.info: PEX1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:3596066-3637230 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 2.26 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    187 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918632
protein coding gene Chr5:3596066-3637232 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029259
protein coding gene Chr5:409113-451462 (+)
A/J MGP_AJ_G0029224
protein coding gene Chr5:291941-332283 (+)
AKR/J MGP_AKRJ_G0029172
protein coding gene Chr5:281231-323934 (+)
BALB/cJ MGP_BALBcJ_G0029241
protein coding gene Chr5:524373-563324 (+)
C3H/HeJ MGP_C3HHeJ_G0028961
protein coding gene Chr5:460130-501168 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029690
protein coding gene Chr5:668981-710487 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026933
protein coding gene Chr5:336044-373258 (+)
CAST/EiJ MGP_CASTEiJ_G0028373
protein coding gene Chr5:481059-521995 (+)
CBA/J MGP_CBAJ_G0028923
protein coding gene Chr5:563994-606356 (+)
DBA/2J MGP_DBA2J_G0029073
protein coding gene Chr5:437991-479410 (+)
FVB/NJ MGP_FVBNJ_G0029035
protein coding gene Chr5:349291-388738 (+)
LP/J MGP_LPJ_G0029163
protein coding gene Chr5:449767-489936 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029062
protein coding gene Chr5:372601-415142 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029721
protein coding gene Chr5:413285-453086 (+)
PWK/PhJ MGP_PWKPhJ_G0028094
protein coding gene Chr5:422375-468307 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027928
protein coding gene Chr5:696931-736765 (+)
WSB/EiJ MGP_WSBEiJ_G0028453
protein coding gene Chr5:440851-482803 (+)



Homology
more
  • Human Ortholog
    PEX1, peroxisomal biogenesis factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX1, peroxisomal biogenesis factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HMLR1, PBD1A, PBD1B, ZWS, ZWS1
  • Links
    NCBI Gene ID: 5189
    neXtProt AC: NX_O43933
    UniProt: O43933

  • Chr Location
    7q21.2; chr7:92487023-92528531 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 27006
    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: PEX1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pex1 mouse models; 1 with human PEX1 associations

Human Disease Mouse Models
      
IDs
View 1 model
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
    16 phenotypes from 1 allele in 1 genetic background
    7 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.
Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 71382 NCBI Gene Model | MGI Sequence Detail 41165 C57BL/6J ±  kb
transcript NM_001293806 RefSeq | MGI Sequence Detail 4553 C57BL/6  
polypeptide Q5BL07 UniProt | EBI | MGI Sequence Detail 1284 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000012553 peroxisome biogenesis factor 1
  • PDB
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR009010 Aspartate decarboxylase-like domain superfamily
    IPR003960 ATPase, AAA-type, conserved site
    IPR003959 ATPase, AAA-type, core
    IPR029067 CDC48 domain 2-like superfamily
    IPR025653 Peroxisome biogenesis factor 1
    IPR015343 Peroxisome biogenesis factor 1, N-terminal, alpha/beta
    IPR015342 Peroxisome biogenesis factor 1, N-terminal, psi beta-barrel fold
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 10
    cDNA 10

    Microarray probesets 7
Other
Accession IDs
less
MGI:2444380
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 7
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:210296 Hiebler S, et al., The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab. 2014 Apr;111(4):522-32

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory