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peroxisomal membrane protein PEX14; peroxisomal membrane anchor protein PEX14; peroxin-14; PTS1 receptor-docking protein (PEX14)
Function:
- component of the peroxisomal translocation machinery with PEX13 & PEX17
- interacts with both the PTS1 & PTS2 receptors
- binds directly to PEX17
- interacts with PEX5 & PEX19
Structure: belongs to the peroxin-14 family
Compartment:
- peroxisome membrane
- peripheral membrane protein; cytoplasmic side
Alternative splicing: named isoforms=2
Pathology:
- defects in PEX14 are the cause of peroxisome biogenesis disorder complementation group K
- defects in PEX14 are a cause of Zellweger syndrome
General
peroxisomal membrane protein (peroxin)
phosphoprotein
Properties
SIZE: entity length = 377 aa
MW = 41 kD
COMPARTMENT: peroxisome
cytoplasm
MOTIF: Ser phosphorylation site {S335}
Database Correlations
OMIM correlations
MORBIDMAP 601791
UniProt O75381
Pfam PF04695
Entrez Gene 5195
Kegg hsa:5195
References
- UniProt :accession O75381
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14