InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX19

Summary

InnateDB Protein

IDBP-104026.6

Last Modified

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

Gene Symbol

PEX19

Protein Name

peroxisomal biogenesis factor 19

Synonyms

D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF; PXMP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000357051

InnateDB Gene

IDBG-104024 (PEX19)

Protein Structure

UniProt Annotation

Function

Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53. {ECO:0000269PubMed:10051604, ECO:0000269PubMed:10704444, ECO:0000269PubMed:11259404, ECO:0000269PubMed:11883941, ECO:0000269PubMed:14709540, ECO:0000269PubMed:15007061}.

Subcellular Localization

Cytoplasm. Peroxisome membrane; Lipid- anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes.

Disease Associations

Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: 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). {ECO:0000269PubMed:20683989}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 12A (PBD12A) [MIM:614886]: 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:10051604}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form. {ECO:0000269PubMed:9339377}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	56 [view]
Protein-Protein	53 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0036105	peroxisome membrane class-1 targeting sequence binding
GO:0047485	protein N-terminus binding
GO:0051117	ATPase binding

Biological Process

GO:0006625	protein targeting to peroxisome
GO:0007031	peroxisome organization
GO:0016557	peroxisome membrane biogenesis
GO:0016559	peroxisome fission
GO:0045046	protein import into peroxisome membrane
GO:0050821	protein stabilization
GO:0055085	transmembrane transport
GO:0061077	chaperone-mediated protein folding
GO:0072321	chaperone-mediated protein transport
GO:0072663	establishment of protein localization to peroxisome
GO:1900131	negative regulation of lipid binding

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005829	cytosol
GO:0016021	integral component of membrane
GO:0031526	brush border membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0043234	protein complex