InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX5

Summary

InnateDB Protein

IDBP-16153.7

Last Modified

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

Gene Symbol

PEX5

Protein Name

peroxisomal biogenesis factor 5

Synonyms

PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000266564

InnateDB Gene

IDBG-16151 (PEX5)

Protein Structure

UniProt Annotation

Function

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. {ECO:0000269PubMed:7706321, ECO:0000269PubMed:7719337, ECO:0000269PubMed:7790377}.

Subcellular Localization

Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13).

Disease Associations

Peroxisome biogenesis disorder 2A (PBD2A) [MIM:214110]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269PubMed:10462504, ECO:0000269PubMed:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:7706321, ECO:0000269PubMed:7719337, ECO:0000269PubMed:7790377}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 92 experimentally validated interaction(s) in this database.

Experimentally validated
Total	92 [view]
Protein-Protein	92 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000268	peroxisome targeting sequence binding
GO:0005052	peroxisome matrix targeting signal-1 binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0019899	enzyme binding
GO:0031267	small GTPase binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0006625	protein targeting to peroxisome
GO:0016558	protein import into peroxisome matrix
GO:0016560	protein import into peroxisome matrix, docking
GO:0016561	protein import into peroxisome matrix, translocation
GO:0045046	protein import into peroxisome membrane
GO:0051262	protein tetramerization
GO:1901094	negative regulation of protein homotetramerization

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005782	peroxisomal matrix
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0016020	membrane
GO:0043234	protein complex