InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX13

Summary

InnateDB Protein

IDBP-53184.5

Last Modified

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

Gene Symbol

PEX13

Protein Name

peroxisomal biogenesis factor 13

Synonyms

NALD; PBD11A; PBD11B; ZWS;

Species

Homo sapiens

Ensembl Protein

ENSP00000295030

InnateDB Gene

IDBG-53182 (PEX13)

Protein Structure

UniProt Annotation

Function

Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.

Subcellular Localization

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

Disease Associations

Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:614883]: 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 11A (PBD11A) [MIM:614883]: 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:10332040, ECO:0000269PubMed:19449432}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]: 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:10332040, ECO:0000269PubMed:10441568}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	11 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001561	fatty acid alpha-oxidation
GO:0001764	neuron migration
GO:0001967	suckling behavior
GO:0007626	locomotory behavior
GO:0016560	protein import into peroxisome matrix, docking
GO:0021795	cerebral cortex cell migration
GO:0060152	microtubule-based peroxisome localization

Cellular Component

GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005779	integral component of peroxisomal membrane
GO:0016020	membrane
GO:0016021	integral component of membrane