PEX16

From Wikipedia, the free encyclopedia

Peroxisomal biogenesis factor 16

Identifiers

External IDs

OMIM: 603360 MGI: 1338829 HomoloGene: 3537

Gene ontology
Cellular Component:	• peroxisome • integral to peroxisomal membrane • membrane • integral to membrane
Biological Process:	• peroxisome organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_004813 (mRNA)
NP_004804 (protein)

NM_145122 (mRNA)
NP_660104 (protein)

Location

Chr 11: 45.89 - 45.9 Mb

Chr 2: 92.18 - 92.18 Mb

Pubmed search

[1]

[2]

Peroxisomal biogenesis factor 16, also known as PEX16, is a human gene.^[1]

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described.^[1]

[edit] References

^ ^a ^b Entrez Gene: PEX16 peroxisomal biogenesis factor 16.

[edit] Further reading

Honsho M, Tamura S, Shimozawa N, et al. (1999). "Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.". Am. J. Hum. Genet. 63 (6): 1622–30. PMID 9837814.
South ST, Gould SJ (1999). "Peroxisome synthesis in the absence of preexisting peroxisomes.". J. Cell Biol. 144 (2): 255–66. PMID 9922452.
Sacksteder KA, Jones JM, South ST, et al. (2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.". J. Cell Biol. 148 (5): 931–44. PMID 10704444.
Fransen M, Wylin T, Brees C, et al. (2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMID 11390669.
Shimozawa N, Nagase T, Takemoto Y, et al. (2002). "A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.". Biochem. Biophys. Res. Commun. 292 (1): 109–12. PMID 11890679.
Fransen M, Brees C, Ghys K, et al. (2002). "Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay.". Mol. Cell Proteomics 1 (3): 243–52. PMID 12096124.
Honsho M, Hiroshige T, Fujiki Y (2003). "The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly.". J. Biol. Chem. 277 (46): 44513–24. doi:10.1074/jbc.M206139200. PMID 12223482.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Jones JM, Morrell JC, Gould SJ (2004). "PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.". J. Cell Biol. 164 (1): 57–67. doi:10.1083/jcb.200304111. PMID 14709540.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Fransen M, Vastiau I, Brees C, et al. (2005). "Analysis of human Pex19p's domain structure by pentapeptide scanning mutagenesis.". J. Mol. Biol. 346 (5): 1275–86. doi:10.1016/j.jmb.2005.01.013. PMID 15713480.
Brocard CB, Boucher KK, Jedeszko C, et al. (2005). "Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.". Traffic 6 (5): 386–95. doi:10.1111/j.1600-0854.2005.00283.x. PMID 15813749.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Kim PK, Mullen RT, Schumann U, Lippincott-Schwartz J (2006). "The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER.". J. Cell Biol. 173 (4): 521–32. doi:10.1083/jcb.200601036. PMID 16717127.