Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:10022913

Identification and characterization of the human orthologue of yeast Pex14p.

Characterized HsPex14p as a peroxisomal membrane protein that binds PEX5 (PTS1 receptor). Notably, interaction of HsPex14p with the PTS2-receptor (PEX7) was not observed, distinguishing the human system from yeast.

PMID:11546814

Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.

Mapped PEX5L regions for PTS2 import (aa 1-230), PEX7 interaction (aa 191-222), and peroxisomal targeting (aa 1-214). Identified a 21-amino acid motif shared with yeast Pex18p/Pex21p. Demonstrated PEX5L as the essential co-receptor for PEX7 in mammalian PTS2 import.

PMID:11931631

Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.

Demonstrated specific PEX7-PTS2 binding, showed only monomeric PEX7 binds PTS2, confirmed dual localization (cytosol and peroxisomal matrix) using GFP-tagged PEX7. PEX7-GFP restored PTS2 import in RCDP fibroblasts.

PMID:12522768

Identification of PEX7 as the second gene involved in Refsum disease.

Identified PEX7 mutations as a cause of Refsum disease (mild PBD), showing that PEX7 mutations produce a clinical spectrum from severe RCDP to mild Refsum disease. Biochemical defects include phytanic acid oxidation, plasmalogen synthesis, and thiolase import.

PMID:22057399

Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.

Identified the PTS2 as an amphipathic helix binding to a conserved groove on PEX7. Glu-113 and Glu-200 in PEX7 are critical for PTS2 binding. E113R abolished PEX7 function in complementation of RCDP cells. Identified KChIP4 as a novel peroxisomal protein.

PMID:25538232

Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.

PEX5L increases PEX7-cargo interaction about 20-fold. Cargo binding is prerequisite for PEX7-PEX5L interaction. E287R mutation in PEX7 specifically disrupts PEX5L interaction while retaining some cargo binding. Sequential assembly of trimeric complex prevents futile PEX7 cycling.

PMID:28514442

Architecture of the human interactome defines protein communities and disease networks.

High-throughput interactome study (BioPlex). Detected protein interactions with PEX7 in an unbiased manner.

PMID:30204880

A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.

Identified VWA8 as a novel PEX7-binding protein with an atypical PTS2. VWA8 is transported to peroxisomes via PEX5L-PEX7 pathway. Demonstrates that PEX7 recognizes atypical PTS2 variants.

PMID:32814053

Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.

High-throughput interactome study detecting protein interactions in the context of neurodegenerative disease networks.

PMID:33961781

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

BioPlex 3.0 high-throughput interactome study detecting protein-protein interactions across cell types.

PMID:40739340

PEX39 facilitates the peroxisomal import of PTS2-containing proteins.

Identified PEX39 as a novel peroxin that facilitates PTS2-dependent protein import. PEX39 interacts with PEX7 and the PTS2 import machinery.

PMID:9090381

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Foundational paper identifying human PEX7 as the PTS2 receptor. Expression corrects PTS2 import defect in RCDP cells. Identified RCDP-causing mutations (L292ter, A218V, G217R).

PMID:9090382

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Cloned human PEX7, demonstrated PTS2-specific import deficiency in RCDP (PTS1 import unaffected). Expression rescues PTS2 import in RCDP fibroblasts. Identified mutations in PEX7 in RCDP CG11 patients.

PMID:9090383

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Identified human PEX7 as the yeast Pex7p orthologue. Expression in RCDP cells rescues PTS2 targeting and DHAP-AT activity. Multiple peroxisomal proteins use PTS2 signals recognized by PEX7.

Reactome:R-HSA-9033232

PEX7 binds cargo proteins containing PTS2

Reactome:R-HSA-9033485

PEX2:PEX10:PEX12 monoubiquitinates PEX5L at cysteine-11

Reactome:R-HSA-9033499

PEX1:PEX6:PEX26:ZFAND6 dissociates Ub:PEX5L and PEX7 from PEX14:PEX13:PEX2:PEX10:PEX12 and translocates PEX5L and PEX7 from the peroxisomal membrane to the cytosol

Reactome:R-HSA-9033514

Cargo of PEX5L:PEX7 translocates from the cytosol to the peroxisomal matrix

Reactome:R-HSA-9033516

PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14 binds PEX1:PEX6:PEX26 and ZFAND6

Reactome:R-HSA-9033527

PEX2:PEX10:PEX12 binds PEX5L (in PEX5L:PEX7:PEX13:PEX14:PEX2:PEX10:PEX12) and Ub:UBE2D1,2,3

Reactome:R-NUL-9033857

Pex14 binds PEX5L (in PEX5L:PEX7:Acaa1a)

Reactome:R-NUL-9033896

PEX5L binds PEX7:Acaa1a