Version 5.4
Homo sapiens Gene: PEX7
Summary
InnateDB Gene IDBG-96958.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX7
Gene Name peroxisomal biogenesis factor 7
Synonyms PBD9B; PTS2R; RCDP1; RD
Species Homo sapiens
Ensembl Gene ENSG00000112357
Encoded Proteins
IDBP-96960
peroxisomal biogenesis factor 7
IDBP-96962
peroxisomal biogenesis factor 7
IDBP-602152
peroxisomal biogenesis factor 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:136822564-136913937
Strand Forward strand
Band q23.3
Transcripts
ENST00000367756 ENSP00000356730
ENST00000318471 ENSP00000315680
ENST00000541292 ENSP00000441004
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 12 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005053 peroxisome matrix targeting signal-2 binding
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0001764 neuron migration
GO:0001958 endochondral ossification
GO:0006625 protein targeting to peroxisome
GO:0006635 fatty acid beta-oxidation
GO:0007031 peroxisome organization
GO:0008611 ether lipid biosynthetic process
GO:0016558 protein import into peroxisome matrix
Cellular Component
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020003
View Gene Order
ENSBTAG00000016791
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04146
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.280932
RefSeq NM_000288
HUGO
OMIM
CCDS CCDS5180
HPRD 03454
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