InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX16

Summary

InnateDB Protein

IDBP-41261.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PEX16

Protein Name

peroxisomal biogenesis factor 16

Synonyms

PBD8A; PBD8B;

Species

Homo sapiens

Ensembl Protein

ENSP00000368024

InnateDB Gene

IDBG-41257 (PEX16)

Protein Structure

UniProt Annotation

Function

Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. {ECO:0000269PubMed:10704444, ECO:0000269PubMed:12223482, ECO:0000269PubMed:16717127}.

Subcellular Localization

Peroxisome membrane {ECO:0000269PubMed:11390669}; Multi-pass membrane protein {ECO:0000269PubMed:11390669}. Endoplasmic reticulum membrane {ECO:0000269PubMed:11390669}.

Disease Associations

Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 8A (PBD8A) [MIM:614876]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269PubMed:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269PubMed:20647552}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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