Mus musculus Gene: Pex5
Summary
InnateDB Gene IDBG-186793.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pex5
Gene Name peroxisomal biogenesis factor 5
Synonyms AW212715; ESTM1; PTS1R; Pxr1; X83306
Species Mus musculus
Ensembl Gene ENSMUSG00000005069
Encoded Proteins
peroxisomal biogenesis factor 5
peroxisomal biogenesis factor 5
peroxisomal biogenesis factor 5
peroxisomal biogenesis factor 5
peroxisomal biogenesis factor 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000139197:
The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:124396816-124415067
Strand Reverse strand
Band F2
Transcripts
ENSMUST00000080557 ENSMUSP00000079398
ENSMUST00000035861 ENSMUSP00000049132
ENSMUST00000112532 ENSMUSP00000108151
ENSMUST00000112531 ENSMUSP00000108150
ENSMUST00000112530 ENSMUSP00000108149
ENSMUST00000156415
ENSMUST00000150899
ENSMUST00000150812
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 65 interaction(s) predicted by orthology.
Predicted by orthology
Total 65 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000268 peroxisome targeting sequence binding
GO:0005052 peroxisome matrix targeting signal-1 binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0019899 enzyme binding
GO:0031267 small GTPase binding
GO:0047485 protein N-terminus binding
Biological Process
GO:0000038 very long-chain fatty acid metabolic process
GO:0001764 neuron migration
GO:0006625 protein targeting to peroxisome
GO:0006635 fatty acid beta-oxidation
GO:0007005 mitochondrion organization
GO:0007006 mitochondrial membrane organization
GO:0007029 endoplasmic reticulum organization
GO:0007031 peroxisome organization
GO:0016558 protein import into peroxisome matrix
GO:0016560 protein import into peroxisome matrix, docking
GO:0016561 protein import into peroxisome matrix, translocation
GO:0021795 cerebral cortex cell migration
GO:0021895 cerebral cortex neuron differentiation
GO:0040018 positive regulation of multicellular organism growth
GO:0044255 cellular lipid metabolic process
GO:0045046 protein import into peroxisome membrane
GO:0048468 cell development
GO:0050905 neuromuscular process
GO:0051262 protein tetramerization
GO:1901094 negative regulation of protein homotetramerization
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0043234 protein complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt O09012
TrEMBL
UniProt Splice Variant
Entrez Gene 19305
UniGene Mm.22418
RefSeq NM_001277330 NM_001277805 NM_008995 NM_175933 XM_006505758 XM_006505759
OMIM
CCDS CCDS20518 CCDS20517
HPRD
IMGT
MGI ID MGI:1098808
MGI Symbol Pex5
EMBL AJ416473 AK088886 AK145111 AK145361 AK161470 BC029748 Z97018
GenPept AAH29748 BAC40632 BAE26240 BAE26388 BAE36414 CAB09694 CAC94925
RNA Seq Atlas 19305