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MGP002241

UniProt Annotations

Entry Information
Gene Nameperoxisomal biogenesis factor 14
Protein EntryPEX14_HUMAN
UniProt IDO75381
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75381-1; Sequence=Displayed; Name=2; IsoId=O75381-2; Sequence=VSP_037021; Note=No experimental confirmation available.;
DiseasePeroxisome biogenesis disorder 13A (PBD13A) [MIM:614887]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized 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:0000269|PubMed:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePeroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: 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.
FunctionPeroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin. {ECO:0000269|PubMed:21525035, ECO:0000269|PubMed:9653144}.
InteractionP40855:PEX19; NbExp=15; IntAct=EBI-594898, EBI-594747; P50542:PEX5; NbExp=13; IntAct=EBI-594898, EBI-597835;
SimilarityBelongs to the peroxin-14 family. {ECO:0000305}.
Subcellular LocationPeroxisome membrane {ECO:0000269|PubMed:19197237}; Peripheral membrane protein {ECO:0000269|PubMed:19197237}; Cytoplasmic side {ECO:0000269|PubMed:19197237}.
SubunitInteracts with PEX5, PEX13 and PEX19. Interacts with tubulin. {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:19197237, ECO:0000269|PubMed:21525035, ECO:0000269|PubMed:9653144}.
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