Homo sapiens Gene: PEX16
Summary
InnateDB Gene IDBG-41257.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX16
Gene Name peroxisomal biogenesis factor 16
Synonyms PBD8A; PBD8B
Species Homo sapiens
Ensembl Gene ENSG00000121680
Encoded Proteins
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
peroxisomal biogenesis factor 16
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:45909669-45918812
Strand Reverse strand
Band p11.2
Transcripts
ENST00000241041 ENSP00000241041
ENST00000378750 ENSP00000368024
ENST00000523721
ENST00000532681 ENSP00000434654
ENST00000533151 ENSP00000433045
ENST00000532554
ENST00000525192 ENSP00000431309
ENST00000527371
ENST00000525229 ENSP00000431132
ENST00000528674 ENSP00000434060
ENST00000529030 ENSP00000432486
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 4 [view]
Protein-DNA 3 [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:0008022 protein C-terminus binding
Biological Process
GO:0006625 protein targeting to peroxisome
GO:0007031 peroxisome organization
GO:0016557 peroxisome membrane biogenesis
GO:0016558 protein import into peroxisome matrix
GO:0022615 protein to membrane docking
GO:0032581 ER-dependent peroxisome organization
GO:0045046 protein import into peroxisome membrane
GO:0070972 protein localization to endoplasmic reticulum
Cellular Component
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.100915
RefSeq NM_004813 NM_057174
HUGO
OMIM
CCDS CCDS31472 CCDS7917
HPRD 04526
IMGT
EMBL
GenPept
RNA Seq Atlas