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

  • Chr Location
    7q21.2; chr7:92487023-92528531 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 27006
    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: PEX1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pex1 mouse models; 3 with human PEX1 associations

Human Disease Mouse Models
       Peroxisome Biogenesis Disorder 1a (zellweger); PBD1A   OMIM: 214100 View 1 model
       Heimler Syndrome 1; HMLR1   OMIM: 234580
Peroxisome Biogenesis Disorder 1B; PBD1B   OMIM: 601539
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
    6 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.
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
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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  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028545 VEGA Gene Model | MGI Sequence Detail 41167 C57BL/6J ±  kb
transcript OTTMUST00000070783 VEGA | MGI Sequence Detail 4555 Not Applicable  
polypeptide OTTMUSP00000036123 VEGA | MGI Sequence Detail 1284 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    187 from dbSNP Build 142
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
    IPR003960 ATPase, AAA-type, conserved site
    IPR003959 ATPase, AAA-type, core
    IPR029067 CDC48 domain 2-like
    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
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  • All nucleic 10
    cDNA 10

    Microarray probesets 7
Other
Accession IDs
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MGI:2444380
References
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  • Summaries
    All 32
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 5
    Phenotypes 6
  • 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
04/26/2016
MGI 6.03
The Jackson Laboratory