InnateDB Protein
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IDBP-41259.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PEX16
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Protein Name
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peroxisomal biogenesis factor 16
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Synonyms
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PBD8A; PBD8B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000241041
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InnateDB Gene
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IDBG-41257 (PEX16)
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Protein Structure
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Function |
Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. {ECO:0000269PubMed:10704444, ECO:0000269PubMed:12223482, ECO:0000269PubMed:16717127}.
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Subcellular Localization |
Peroxisome membrane {ECO:0000269PubMed:11390669}; Multi-pass membrane protein {ECO:0000269PubMed:11390669}. Endoplasmic reticulum membrane {ECO:0000269PubMed:11390669}.
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Disease Associations |
Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: 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 8A (PBD8A) [MIM:614876]: 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:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269PubMed:20647552}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013919
Peroxisome membrane protein, Pex16
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PFAM |
PF08610
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y5Y5
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PhosphoSite |
PhosphoSite-Q9Y5Y5
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TrEMBL |
E9PLS4
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UniProt Splice Variant |
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Entrez Gene |
9409
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UniGene |
Hs.100915
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RefSeq |
NP_476515
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HUGO |
HGNC:8857
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OMIM |
603360
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CCDS |
CCDS7917
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HPRD |
04526
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IMGT |
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EMBL |
AB016531
AC068385
AF118240
BC000467
BC004356
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GenPept |
AAD22466
AAH00467
AAH04356
BAA88826
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