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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:3646066-3687230 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 2.26 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1054 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 Chr5:3646066-3687232 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PEX1, peroxisomal biogenesis factor 1
  • Synonyms
    HMLR1, PBD1A, PBD1B, ZWS, ZWS1
  • Links
    NCBI Gene ID: 5189
    neXtProt AC: NX_O43933
    UniProt: O43933

  • Chr Location
    7q21.2; chr7:92487020-92528520 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pex1 mouse models; 3 with human PEX1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
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
less
  • All GO Annotations
    33
  • GO References
    9
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
    706
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2444380
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 9
      Phenotypes 13
    • 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:336526 Mauriac SA, et al., Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss. Cells. 2022 Dec 9;11(24)
    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)
    Citing These Resources
    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