InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX7

Summary

InnateDB Protein

IDBP-96962.4

Last Modified

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

Gene Symbol

PEX7

Protein Name

peroxisomal biogenesis factor 7

Synonyms

PBD9B; PTS2R; RCDP1; RD;

Species

Homo sapiens

Ensembl Protein

ENSP00000315680

InnateDB Gene

IDBG-96958 (PEX7)

Protein Structure

UniProt Annotation

Function

Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

Subcellular Localization

Peroxisome. Cytoplasm.

Disease Associations

Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: 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.Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. {ECO:0000269PubMed:9090381}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. {ECO:0000269PubMed:12522768}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

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	12 [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:0005053	peroxisome matrix targeting signal-2 binding
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0001764	neuron migration
GO:0001958	endochondral ossification
GO:0006625	protein targeting to peroxisome
GO:0006635	fatty acid beta-oxidation
GO:0007031	peroxisome organization
GO:0008611	ether lipid biosynthetic process
GO:0016558	protein import into peroxisome matrix