Version 5.4
Homo sapiens Gene: PEX3
Summary
InnateDB Gene IDBG-97323.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX3
Gene Name peroxisomal biogenesis factor 3
Synonyms PBD10A; TRG18
Species Homo sapiens
Ensembl Gene ENSG00000034693
Encoded Proteins
IDBP-97325
peroxisomal biogenesis factor 3
IDBP-97327
peroxisomal biogenesis factor 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:143450807-143490010
Strand Forward strand
Band q24.2
Transcripts
ENST00000367592 ENSP00000356564
ENST00000367591 ENSP00000356563
ENST00000585848
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 10 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0046983 protein dimerization activity
Biological Process
GO:0007031 peroxisome organization
GO:0016557 peroxisome membrane biogenesis
GO:0045046 protein import into peroxisome membrane
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0032994 protein-lipid complex
GO:0043231 intracellular membrane-bounded organelle
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019809
View Gene Order
ENSBTAG00000001747
Not yet available
Pathways
NETPATH
REACTOME
REACT_111158
ABCA transporters in lipid homeostasis pathway
REACT_15480
ABC-family proteins mediated transport pathway
REACT_15518
Transmembrane transport of small molecules pathway
KEGG
hsa04146
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.7277
RefSeq NM_003630
HUGO
OMIM
CCDS CCDS5199
HPRD 04407
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca