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peroxisomal membrane protein PEX13; peroxin-13 (PEX13)
Function:
- component of the peroxisomal translocation machinery with PEX14 & PEX17
- functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5)
- involved in import of PTS1 & PTS2 proteins
- interacts with PEX19
Structure:
- belongs to the peroxin-13 family
- contains 1 SH3 domain
Compartment: peroxisome membrane; single-pass membrane protein
Pathology:
- defects in PEX13 are the cause of peroxisome biogenesis disorder complementation group 13
- defects in PEX13 are a cause of neonatal adrenoleukodystrophy
General
peroxisomal membrane protein (peroxin)
Properties
SIZE: entity length = 403 aa
MW = 44 kD
COMPARTMENT: peroxisome
MOTIF: proline-rich region
SITE: 5-11
MOTIF: proline residue (SEVERAL)
Targeting to peroxisomes {145-233}
MOTIF: PEX19 interaction {175-196}
transmembrane domain {227-251}
src homology 3 [SH3] domain
SITE: 276-334
Database Correlations
OMIM correlations
MORBIDMAP 601789
UniProt Q92968
PFAM correlations
Entrez Gene 5194
Kegg hsa:5194
References
- UniProt :accession Q92968
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX13