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Gene Detail
peroxisomal biogenesis factor 5
Synonyms ESTM1, peroxisome biogenesis factor 5, PTS1R, Pxr1
Feature Type protein coding gene
Genetic Map
Chromosome 6
59.15 cM
Detailed Genetic Map ± 1 cM

Mapping data(3)
Sequence Map
Chr6:124396817-124415067 bp, - strand
From VEGA annotation of GRCm38

  18251 bp   ±  kb flank

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

Mouse Genome Browser
HomoloGene:270  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

Gene Tree: Pex5

Human Homolog PEX5, peroxisomal biogenesis factor 5
NCBI Gene ID 5830
neXtProt AC  NX_P50542
Human Synonyms  PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1
Human Chr (Location)  12p13.31; chr12:7189163-7218574 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human PEX5
alleles, and
All mutations/alleles(7) : Gene trapped(5) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
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.
Human Diseases Modeled Using Mouse Pex5 (1)    Alleles Annotated to Human Diseases(1)   
Pex5 interacts with 202 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
All GO classifications: (60 annotations)
Process cell development, cellular lipid metabolic process, ...
Component cell, cytoplasm, ...
Function enzyme binding, peroxisome matrix targeting signal-1 binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Literature Summary: (3 records)
Data Summary: Results (70)    Tissues (33)    Images (13)
Theiler Stages: 22, 23, 26
Assay TypeResults
Immunohistochemistry 2
RNA in situ 60
Western blot 8
cDNA source data(111)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(112) Genomic(1) cDNA(111)
Microarray probesets(4)
Other database
VEGA Gene ModelOTTMUSG00000023142 (Evidence)
Ensembl Gene ModelENSMUSG00000005069 (Evidence)
Entrez Gene19305 (Evidence)
DFCITC1575036, TC1593172
DoTSDT.101183646, DT.530727, DT.91373179, DT.94276082
NIA Mouse Gene IndexU027840
Consensus CDS ProjectCCDS20517.1, CCDS20518.1
International Mouse Knockout Project StatusPex5
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023142 VEGA Gene Model | MGI Sequence Detail 18251 C57BL/6J ±  kb
transcript OTTMUST00000055931 VEGA | MGI Sequence Detail 3139 Not Applicable 
polypeptide OTTMUSP00000026838 VEGA | MGI Sequence Detail 639 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(12) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(29 from dbSNP Build 137)
InterPro IPR024111 Peroxisomal targeting signal 1 receptor family
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR001440 Tetratricopeptide TPR-1
Protein Ontology PR:000012565 peroxisomal targeting signal 1 receptor
References (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:190874 Martens K, et al., Peroxisome deficient aP2-Pex5 knockout mice display impaired white adipocyte and muscle function concomitant with reduced adrenergic tone. Mol Genet Metab. 2012 Dec;107(4):735-47
All references(60)
Disease annotation references (1)
accession IDs
MGD-MRK-28134, MGI:104840, MGI:2141665

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
MGI 5.19
The Jackson Laboratory