PEX6

PEX6
Identifiers
Aliases	PEX6, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1, HMLR2, peroxisomal biogenesis factor 6
External IDs	OMIM: 601498; MGI: 2385054; HomoloGene: 47914; GeneCards: PEX6; OMA:PEX6 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	42,979,181 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	47,036,467 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; body of pancreas; ; right lobe of liver; ; anterior pituitary; ; right adrenal gland; ; right lobe of thyroid gland; ; stromal cell of endometrium; ; gastrocnemius muscle; ; body of stomach; ; left lobe of thyroid gland;
	Top expressed in
	internal carotid artery; ; left lobe of liver; ; external carotid artery; ; brown adipose tissue; ; ciliary body; ; motor neuron; ; Paneth cell; ; vas deferens; ; retinal pigment epithelium; ; fossa;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein C-terminus binding; ATPase activity; protein binding; ATP binding; protein-containing complex binding;
Cellular component	cytoplasm; peroxisomal membrane; peroxisome; membrane; photoreceptor cell cilium; photoreceptor outer segment; cell projection; cytosol;
Biological process	protein stabilization; peroxisome organization; protein import into peroxisome matrix, translocation; protein targeting to peroxisome; protein import into peroxisome matrix;
	Sources:Amigo / QuickGO
Orthologs
	5190
	224824
	ENSG00000124587
	ENSMUSG00000002763
	Q13608
	Q99LC9
	NM_000287; NM_001316313
	NM_145488
	NP_000278; NP_001303242
	NP_663463
	Wikidata
View/Edit Human	View/Edit Mouse

Peroxisome assembly factor 2 is a protein that in humans is encoded by the PEX6 gene.^[5]^[6]

Interactions

PEX6 has been shown to interact with PEX1^[7]^[8] and PEX26.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124587 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000002763 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ (Aug 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". EMBO J. 15 (12): 2914–23. PMC 450231. PMID 8670792.
^ "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".
^ Tamura, S; Shimozawa N; Suzuki Y; Tsukamoto T; Osumi T; Fujiki Y (Apr 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. 245 (3). UNITED STATES: 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)
^ Geisbrecht, B V; Collins C S; Reuber B E; Gould S J (Jul 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. 95 (15). UNITED STATES: 8630–5. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)
^ Matsumoto, Naomi; Tamura Shigehiko; Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5). England: 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447. {{cite journal}}: Cite has empty unknown parameters: |laysummary=, |laydate=, and |laysource= (help)

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Fukuda S, Shimozawa N, Suzuki Y, et al. (1997). "Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans". Am. J. Hum. Genet. 59 (6): 1210–20. PMC 1914864. PMID 8940266.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Tamura S, Shimozawa N, Suzuki Y, et al. (1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8630–5. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
Zhang Z, Suzuki Y, Shimozawa N, et al. (1999). "Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders". Hum. Mutat. 13 (6): 487–96. doi:10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. PMID 10408779.
Matsumoto N, Tamura S, Moser A, et al. (2001). "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". J. Hum. Genet. 46 (5): 273–7. doi:10.1007/s100380170078. PMID 11355018.
Tamura S, Matsumoto N, Imamura A, et al. (2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction". Biochem. J. 357 (Pt 2): 417–26. doi:10.1042/0264-6021:3570417. PMC 1221968. PMID 11439091.
Raas-Rothschild A, Wanders RJ, Mooijer PA, et al. (2002). "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents". Am. J. Hum. Genet. 70 (4): 1062–8. doi:10.1086/339766. PMC 379104. PMID 11873320.
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. PMC 139241. PMID 12477932.
Matsumoto N, Tamura S, Fujiki Y (2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.
Warner DR, Roberts EA, Greene RM, Pisano MM (2004). "Identification of novel Smad binding proteins". Biochem. Biophys. Res. Commun. 312 (4): 1185–90. doi:10.1016/j.bbrc.2003.11.049. PMID 14651998.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
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.
Furuki S, Tamura S, Matsumoto N, et al. (2006). "Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex". J. Biol. Chem. 281 (3): 1317–23. doi:10.1074/jbc.M510044200. PMID 16257970.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Tamura S, Yasutake S, Matsumoto N, Fujiki Y (2006). "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p". J. Biol. Chem. 281 (38): 27693–704. doi:10.1074/jbc.M605159200. PMID 16854980.{{cite journal}}: CS1 maint: unflagged free DOI (link)

External links

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000124587 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000002763 – 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.

[pmid8670792-5] Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ (Aug 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". EMBO J. 15 (12): 2914–23. PMC 450231. PMID 8670792.

[entrez-6] "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".

[pmid9588209-7] Tamura, S; Shimozawa N; Suzuki Y; Tsukamoto T; Osumi T; Fujiki Y (Apr 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. 245 (3). UNITED STATES: 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

[pmid9671729-8] Geisbrecht, B V; Collins C S; Reuber B E; Gould S J (Jul 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. 95 (15). UNITED STATES: 8630–5. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

[pmid12717447-9] Matsumoto, Naomi; Tamura Shigehiko; Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5). England: 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447. {{cite journal}}: Cite has empty unknown parameters: |laysummary=, |laydate=, and |laysource= (help)

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Interactions

References

Further reading

External links