Tbio PEX5 Peroxisomal targeting signal 1 receptor

Protein Summary

Description

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Uniprot Accession IDs

• P50542
• A8K891
• B4DZ45
• B7ZAD5
• D3DUT8
• Q15115
• Q15266
• Q96FN7
• PTS1 receptor

Gene Name

• PEX5

Ensembl ID

• ENST00000266563
• ENSP00000266563
• ENSG00000139197
• ENST00000266564
• ENSP00000266564
• ENST00000420616
• ENSP00000410159
• ENST00000434354
• ENSP00000407401
• ENST00000455147
• ENSP00000400647

Symbol

• PXR1
• PXR1
• PBD2A
• PBD2B
• PTS1R
• RCDP5
• PTS1-BP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.95
protein domain	0.73
cell line	0.69
disease perturbation	0.68
transcription factor binding site profile	0.68

Protein Classes

PANTHER Classes

Protein / Receptor / Peroxisomal Targeting Signal 1 Receptor

Protein / Membrane Traffic Protein / Membrane Trafficking Regulatory Protein / Peroxisomal Targeting Signal 1 Receptor

DTO Classes

Protein / Transporter / Membrane Trafficking Regulatory Protein / Peroxisomal Targeting Signal 1 Receptor

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: 216.94   (req: < 5)

Gene RIFs: 45   (req: <= 3)

Antibodies: 226   (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: 216.94   (req: >= 5)

Gene RIFs: 45   (req: > 3)

Antibodies: 226   (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