Homo sapiens Protein: PEX6 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-87510.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PEX6 | ||||||||||||||||||||||
Protein Name | peroxisomal biogenesis factor 6 | ||||||||||||||||||||||
Synonyms | PAF-2; PAF2; PBD4A; PDB4B; PXAAA1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000303511 | ||||||||||||||||||||||
InnateDB Gene | IDBG-87508 (PEX6) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. | ||||||||||||||||||||||
Disease Associations | Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: 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). {ECO:0000269PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: 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:10408779, ECO:0000269PubMed:8670792}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269PubMed:11355018}. 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 15 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003593
AAA+ ATPase domain IPR003959 ATPase, AAA-type, core IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00004
PF07724 PF13304 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00382
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13608 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13608 | ||||||||||||||||||||||
TrEMBL | A0A024RD09 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5190 | ||||||||||||||||||||||
UniGene | Hs.656425 | ||||||||||||||||||||||
RefSeq | NP_000278 | ||||||||||||||||||||||
HUGO | HGNC:8859 | ||||||||||||||||||||||
OMIM | 601498 | ||||||||||||||||||||||
CCDS | CCDS4877 | ||||||||||||||||||||||
HPRD | 03293 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB051076 AF108095 AF108096 AF108097 AF108098 AK314237 BC048331 CH471081 D83703 U56602 | ||||||||||||||||||||||
GenPept | AAC50655 AAF62564 AAH48331 BAA12069 BAB83046 BAG36906 EAX04125 EAX04127 | ||||||||||||||||||||||