InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX1

Summary

InnateDB Protein

IDBP-381825.5

Last Modified

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

Gene Symbol

PEX1

Protein Name

peroxisomal biogenesis factor 1

Synonyms

PBD1A; PBD1B; ZWS; ZWS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000394413

InnateDB Gene

IDBG-26608 (PEX1)

Protein Structure

UniProt Annotation

Function

Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Subcellular Localization

Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.

Disease Associations

Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: 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:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder 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:9398847, ECO:0000269PubMed:9398848, ECO:0000269PubMed:9539740}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]: 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:11439091, ECO:0000269PubMed:9398847, ECO:0000269PubMed:9539740}. 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 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008022	protein C-terminus binding
GO:0009378	four-way junction helicase activity
GO:0032403	protein complex binding
GO:0042623	ATPase activity, coupled

Biological Process

GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006310	DNA recombination
GO:0006625	protein targeting to peroxisome
GO:0007031	peroxisome organization
GO:0016558	protein import into peroxisome matrix
GO:0060152	microtubule-based peroxisome localization

Cellular Component

GO:0005737	cytoplasm
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005829	cytosol
GO:0043231	intracellular membrane-bounded organelle

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR003959 ATPase, AAA-type, core
IPR008824 DNA helicase, Holliday junction RuvB type, N-terminal
IPR009010 Aspartate decarboxylase-like domain
IPR015342 Peroxisome biogenesis factor 1, N-terminal
IPR015343 Peroxisome biogenesis factor 1, alpha/beta
IPR027417 P-loop containing nucleoside triphosphate hydrolase
IPR029067 CDC48 domain 2-like

PFAM

PF00004
PF07724
PF13304
PF05496
PF09262
PF09263

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O43933