InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX14

Summary

InnateDB Protein

IDBP-89083.6

Last Modified

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

Gene Symbol

PEX14

Protein Name

peroxisomal biogenesis factor 14

Synonyms

dJ734G22.2; NAPP2; PBD13A; Pex14p;

Species

Homo sapiens

Ensembl Protein

ENSP00000349016

InnateDB Gene

IDBG-89081 (PEX14)

Protein Structure

UniProt Annotation

Function

Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly to PEX17.

Subcellular Localization

Peroxisome membrane {ECO:0000269PubMed:19197237}; Peripheral membrane protein {ECO:0000269PubMed:19197237}; Cytoplasmic side {ECO:0000269PubMed:19197237}.

Disease Associations

Peroxisome 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.Peroxisome 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:0000269PubMed:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.

Experimentally validated
Total	70 [view]
Protein-Protein	70 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003714	transcription corepressor activity
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0047485	protein N-terminus binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0006461	protein complex assembly
GO:0007031	peroxisome organization
GO:0016558	protein import into peroxisome matrix
GO:0016560	protein import into peroxisome matrix, docking
GO:0016561	protein import into peroxisome matrix, translocation
GO:0032091	negative regulation of protein binding
GO:0034453	microtubule anchoring
GO:0036250	peroxisome transport along microtubule
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0044721	protein import into peroxisome matrix, substrate release
GO:0045892	negative regulation of transcription, DNA-templated
GO:0051260	protein homooligomerization
GO:1901094	negative regulation of protein homotetramerization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0043234	protein complex