Homo sapiens Gene: PEX6
Summary
InnateDB Gene IDBG-87508.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX6
Gene Name peroxisomal biogenesis factor 6
Synonyms PAF-2; PAF2; PBD4A; PDB4B; PXAAA1;
Species Homo sapiens
Ensembl Gene ENSG00000124587
Encoded Proteins
peroxisomal biogenesis factor 6
peroxisomal biogenesis factor 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:42963870-42979220
Strand Reverse strand
Band p21.1
Transcripts
ENST00000304611 ENSP00000303511
ENST00000244546 ENSP00000244546
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 11 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0016887 ATPase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0032403 protein complex binding
GO:0042623 ATPase activity, coupled
Biological Process
GO:0006200 ATP catabolic process
GO:0006625 protein targeting to peroxisome
GO:0007031 peroxisome organization
GO:0008152 metabolic process
GO:0016561 protein import into peroxisome matrix, translocation
GO:0050821 protein stabilization
Cellular Component
GO:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q13608
TrEMBL A0A024RD09
UniProt Splice Variant
Entrez Gene 5190
UniGene Hs.656425
RefSeq NM_000287
HUGO HGNC:8859
OMIM 601498
CCDS CCDS4877
HPRD 03293
IMGT
EMBL AB051076 AF108095 AF108096 AF108097 AF108098 AK314237 BC048331 CH471081 D83703 U56602
GenPept AAC50655 AAF62564 AAH48331 BAA12069 BAB83046 BAG36906 EAX04125 EAX04127
RNA Seq Atlas 5190