PEX16

PEX16
Identifiers
Aliases	PEX16 , PBD8A, PBD8B, peroxisomal biogenesis factor 16
External IDs	OMIM: 603360; MGI: 1338829; HomoloGene: 3537; GeneCards: PEX16; OMA:PEX16 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p11.2 Start 45,909,663 bp [1] End 45,918,812 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 E1 Start 92,205,021 bp [2] End 92,211,562 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex granulocyte right lobe of liver anterior pituitary C1 segment body of pancreas mucosa of transverse colon endothelial cell right frontal lobe anterior cingulate cortex Top expressed in left lobe of liver morula right kidney lip brown adipose tissue subcutaneous adipose tissue white adipose tissue gastrula duodenum proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding protein binding Cellular component integral component of membrane peroxisomal membrane peroxisome endoplasmic reticulum membrane endoplasmic reticulum membrane integral component of peroxisomal membrane Biological process protein targeting to peroxisome protein localization to endoplasmic reticulum peroxisome membrane biogenesis peroxisome organization protein import into peroxisome matrix protein to membrane docking ER-dependent peroxisome organization protein import into peroxisome membrane ER-dependent peroxisome localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9409 18633 Ensembl ENSG00000121680 ENSMUSG00000027222 UniProt Q9Y5Y5 Q91XC9 RefSeq (mRNA) NM_004813 NM_057174 NM_145122 RefSeq (protein) NP_004804 NP_476515 NP_660104 Location (UCSC) Chr 11: 45.91 – 45.92 Mb Chr 2: 92.21 – 92.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene. ^{[5] [6]}

Function

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. ^[6]

Interactions

PEX16 has been shown to interact with PEX19. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000121680 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027222 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. South ST, Gould SJ (Mar 1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J Cell Biol. 144 (2): 255–66. doi:10.1083/jcb.144.2.255. PMC   2132891 . PMID   9922452.
6. "Entrez Gene: PEX16 peroxisomal biogenesis factor 16".
7. Fransen, M; Wylin T; Brees C; Mannaerts G P; Van Veldhoven P P (Jul 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. ISSN   0270-7306. PMC   87101 . PMID   11390669.

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. doi:10.1086/302161. PMC   1377633 . PMID   9837814.
• 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. doi:10.1083/jcb.148.5.931. PMC   2174547 . 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. PMC   87101 . 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. doi:10.1006/bbrc.2002.6642. 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. doi: 10.1074/mcp.M100025-MCP200 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. PMC   2171958 . 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. PMC   528928 . 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. S2CID   24667495.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• 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. PMC   2063862 . PMID   16717127.

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum