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Pex1
Gene Detail
Symbol

Name
ID
Pex1
peroxisomal biogenesis factor 1
MGI:1918632
Synonyms
5430414H02Rik, E330005K07Rik, peroxisome biogenesis factor 1, ZWS1
Feature Type
protein coding gene
Genetic Map
Chromosome 5
2.26 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:3596066-3637232 bp, + strand
From VEGA annotation of GRCm38

  41167 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:27006  Vertebrate Homology Class
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: Pex1

Human
homologs
PEX1, peroxisomal biogenesis factor 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5189
neXtProt AC: NX_O43933

Human Synonyms: PBD1A, PBD1B, ZWS, ZWS1

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

Disease Associations: (2) Diseases Associated with Human PEX1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(3) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 degeneration and abnormal cone and rod electrophysiology.
 
Human Diseases Modeled in Mice Using Pex1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Pex1 interacts with 74 markers (Mir18, Mir18b, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process microtubule-based peroxisome localization, peroxisome organization, ...
Component cytoplasm, cytosol, ...
Function ATPase activity, coupled, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(10)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase pex1    NEW 
Molecular
reagents
All nucleic(10) cDNA(10)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000028545 (Evidence)
Ensembl Gene Model ENSMUSG00000005907 (Evidence)
Entrez Gene 71382 (Evidence)
NIA Mouse Gene Index U025929
PDB 1WLF
Consensus CDS Project CCDS19065.1, CCDS80201.1
International Mouse Phenotyping Consortium Status Pex1
Sequences
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 sequences
All sequences(63) RefSeq(9) UniProt(7)
Polymorphisms
SNPs within 2kb(187 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR009010 Aspartate decarboxylase-like domain
InterPro IPR003960 ATPase, AAA-type, conserved site
InterPro IPR003959 ATPase, AAA-type, core
InterPro IPR029067 CDC48 domain 2-like
InterPro IPR025653 Peroxisome biogenesis factor 1
InterPro IPR015343 Peroxisome biogenesis factor 1, N-terminal, alpha/beta
InterPro IPR015342 Peroxisome biogenesis factor 1, N-terminal, psi beta-barrel fold
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000012553 peroxisome biogenesis factor 1
References
(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
All references(33)
Disease annotation references (1)
Other
accession IDs
MGI:2444380

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
08/25/2015
MGI 6.0
The Jackson Laboratory