InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX3

Summary

InnateDB Protein

IDBP-97327.5

Last Modified

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

Gene Symbol

PEX3

Protein Name

peroxisomal biogenesis factor 3

Synonyms

PBD10A; TRG18;

Species

Homo sapiens

Ensembl Protein

ENSP00000356563

InnateDB Gene

IDBG-97323 (PEX3)

Protein Structure

UniProt Annotation

Function

Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. {ECO:0000269PubMed:10848631, ECO:0000269PubMed:15007061}.

Subcellular Localization

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

Disease Associations

Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: 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 10A (PBD10A) [MIM:614882]: 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:10848631, ECO:0000269PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in all examined tissues.

Comments

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