Pex5
Gene Detail

Symbol Name ID

Pex5 peroxisomal biogenesis factor 5 MGI:1098808

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

Vertebrate homology

HomoloGene:270  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pex5

Human homologs

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; chr12:7341759-7371170 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PEX5

Alleles and phenotypes

All alleles(7) : Targeted(2) Gene trapped(5)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (56 annotations)

Process	cell development, cellular lipid metabolic process, ...
Component	cytoplasm, cytosol, ...
Function	enzyme binding, peroxisome matrix targeting signal-1 binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (70)    Tissues (33)    Images (13)
Theiler Stages: 22, 23, 26

Assay Type	Results
Immunohistochemistry	2
RNA in situ	60
Western blot	8

cDNA source data(111)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(112) Genomic(1) cDNA(111)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000023142 (Evidence)
Ensembl Gene Model	ENSMUSG00000005069 (Evidence)
Entrez Gene	19305 (Evidence)
UniGene	22418
DFCI	TC1575036, TC1593172
DoTS	DT.101183646, DT.530727, DT.91373179, DT.94276082
NIA Mouse Gene Index	U027840
Consensus CDS Project	CCDS20517.1, CCDS20518.1
International Mouse Knockout Project Status	Pex5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023142	VEGA Gene Model | MGI Sequence Detail	18251	C57BL/6J
transcript	OTTMUST00000055931	VEGA | MGI Sequence Detail	3139	Not Applicable
polypeptide	OTTMUSP00000026838	VEGA | MGI Sequence Detail	639	Not Applicable

All sequences(57) RefSeq(8) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(26 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-28134, MGI:104840, MGI:2141665