Tbio PEX19 Peroxisomal biogenesis factor 19

Protein Summary

Description

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. This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Uniprot Accession IDs

• P40855
• D3DVE7
• Q5QNY4
• Q8NI97

Gene Name

• PEX19

Ensembl ID

• ENST00000368072
• ENSP00000357051
• ENSG00000162735

Symbol

• HK33
• PXF
• PXF
• HK33
• PMP1
• PMPI
• PXMP1
• PBD12A
• D1S2223E

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.87
transcription factor perturbation	0.84
cellular component	0.73
histone modification site profile	0.71
tissue	0.62

Protein Classes

PANTHER Classes

Protein / Storage Protein / Peroxisomal Biogenesis Factor 19

DTO Classes

Protein / Storage / Peroxisomal Biogenesis Factor 19

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 211.4   (req: < 5)

Gene RIFs: 33   (req: <= 3)

Antibodies: 348   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 211.4   (req: >= 5)

Gene RIFs: 33   (req: > 3)

Antibodies: 348   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0