PEX6

PEX6
식별자
에일리어스	PEX6, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1, HMLR2, 페르옥시좀생성인자 6
외부 ID	OMIM : 601498 MGI : 2385054 HomoloGene : 47914 Genecard : PEX6
유전자 위치(인간)
크르.	6번 염색체(인간)
끝.	42,979,181 bp
유전자 위치(마우스)
크르.	17번 염색체(쥐)
끝.	47,036,467 bp
RNA발현패턴
	상단 표시 위치:
	우측 자궁관; ; 췌장체; ; 간우엽; ; 뇌하수체 전엽; ; 우부신; ; 갑상선 우엽; ; 자궁내막간질세포; ; 위근; ; 위체; ; 갑상선 좌엽;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	뉴클레오티드 결합; 단백질C말단결합; ATP효소활성; GO:0001948 단백질 결합; ATP 결합; GO:0032403 단백질 함유 복합결합;
셀룰러 컴포넌트	세포질; 과산화염색체막; 퍼옥시좀; 막; 광수용체세포실륨; 광수용체 외측 세그먼트; 세포 투영; 세포;
생물학적 과정	단백질 안정화; 페르옥시좀 조직; 퍼옥시좀 매트릭스로의 단백질 수입, 전위; 페르옥시좀을 표적으로 하는 단백질; 페르옥시좀 매트릭스로의 단백질 수입;
	출처:아미고 / QuickGO
맞춤법
	5190
	224824
	ENSG00000124587
	ENSMUSG00000002763
	문제 13608
	Q99LC9
	NM_000287; NM_001316313
	NM_145488
	NP_000278; NP_001303242
	NP_663463
	위키데이터
인간 보기/편집	마우스 표시/편집

페르옥시좀 조립인자 2는 PEX6 ^[5]^[6]유전자에 의해 인체 내에서 암호화되는 단백질이다.PEX6는 페르옥시좀에 국재하는 AAA ATP효소이다.PEX6은 PEX1과^[7]^[8] 헥사머를 형성하고 PEX26에 ^[9]의해 막에 도입된다.

기능.

효모에서 식물, 인간에 이르기까지 PEX6의 검증된 기능은 단 한 가지입니다. PEX6(및 PEX1)은 PEX5가 과산화염소체 막에서 PEX5를 제거하여 PEX5가 추가로 과산화염소체 수입을 수행할 수 있도록 합니다.인간 PEX6는 기능적 ^[10]보존을 강조하는 펙스6 돌연변이를 유전적으로 보완할 수 있다.Arabidopsis thaliana의 pex6 돌연변이에 대한 연구는 PEX6가 기름 몸체(식물 고유의 지질 방울)^[11]를 소비하는 역할을 할 수 있다는 것을 보여주었다.효모 펙스6 돌연변이에 대한 연구는 PEX6가 ^[12]펙소파지라고 불리는 페르옥시좀의 자가파지에 중요한 역할을 한다는 것을 보여주었다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000124587 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000002763 - 앙상블, 2017년 5월
^ "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 (June 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". The EMBO Journal. 15 (12): 2914–23. doi:10.1002/j.1460-2075.1996.tb00654.x. PMC 450231. PMID 8670792.
^ "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".
^ Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
^ Gardner BM, Chowdhury S, Lander GC, Martin A (March 2015). "The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits". Journal of Molecular Biology. 427 (6 Pt B): 1375–88. doi:10.1016/j.jmb.2015.01.019. PMC 4355278. PMID 25659908.
^ Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.
^ Zolman BK, Bartel B (February 2004). "An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function". Proceedings of the National Academy of Sciences of the United States of America. 101 (6): 1786–91. Bibcode:2004PNAS..101.1786Z. doi:10.1073/pnas.0304368101. PMC 341854. PMID 14745029.
^ Gonzalez KL, Fleming WA, Kao YT, Wright ZJ, Venkova SV, Ventura MJ, Bartel B (October 2017). "Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization". The Plant Journal. 92 (1): 110–128. doi:10.1111/tpj.13641. PMC 5605450. PMID 28742939.
^ Nuttall JM, Motley AM, Hettema EH (May 2014). "Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae". Autophagy. 10 (5): 835–45. doi:10.4161/auto.28259. PMC 5119063. PMID 24657987.
^ Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (9): 1430–41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.
^ Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M (March 2016). "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–21. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.

추가 정보

Maruyama K, Sugano S (January 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, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N (December 1996). "Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans". American Journal of Human Genetics. 59 (6): 1210–20. PMC 1914864. PMID 8940266.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 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, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (July 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630–5. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N (1999). "Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders". Human Mutation. 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, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y (2001). "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". Journal of Human Genetics. 46 (5): 273–7. doi:10.1007/s100380170078. PMID 11355018.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y (July 2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction". The Biochemical Journal. 357 (Pt 2): 417–26. doi:10.1042/0264-6021:3570417. PMC 1221968. PMID 11439091.
Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH (April 2002). "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents". American Journal of Human Genetics. 70 (4): 1062–8. doi:10.1086/339766. PMC 379104. PMID 11873320.
Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.
Warner DR, Roberts EA, Greene RM, Pisano MM (December 2003). "Identification of novel Smad binding proteins". Biochemical and Biophysical Research Communications. 312 (4): 1185–90. doi:10.1016/j.bbrc.2003.11.049. PMID 14651998.
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y (January 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". The Journal of Biological Chemistry. 281 (3): 1317–23. doi:10.1074/jbc.M510044200. PMID 16257970.
Tamura S, Yasutake S, Matsumoto N, Fujiki Y (September 2006). "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p". The Journal of Biological Chemistry. 281 (38): 27693–704. doi:10.1074/jbc.M605159200. PMID 16854980.

외부 링크

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000124587 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG00000002763 - 앙상블, 2017년 5월

[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 (June 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". The EMBO Journal. 15 (12): 2914–23. doi:10.1002/j.1460-2075.1996.tb00654.x. 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 (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.

[8] Gardner BM, Chowdhury S, Lander GC, Martin A (March 2015). "The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits". Journal of Molecular Biology. 427 (6 Pt B): 1375–88. doi:10.1016/j.jmb.2015.01.019. PMC 4355278. PMID 25659908.

[pmid12717447-9] Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.

[10] Zolman BK, Bartel B (February 2004). "An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function". Proceedings of the National Academy of Sciences of the United States of America. 101 (6): 1786–91. Bibcode:2004PNAS..101.1786Z. doi:10.1073/pnas.0304368101. PMC 341854. PMID 14745029.

[11] Gonzalez KL, Fleming WA, Kao YT, Wright ZJ, Venkova SV, Ventura MJ, Bartel B (October 2017). "Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization". The Plant Journal. 92 (1): 110–128. doi:10.1111/tpj.13641. PMC 5605450. PMID 28742939.

[12] Nuttall JM, Motley AM, Hettema EH (May 2014). "Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae". Autophagy. 10 (5): 835–45. doi:10.4161/auto.28259. PMC 5119063. PMID 24657987.

[13] Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (9): 1430–41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.

[14] Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M (March 2016). "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–21. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.

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Search

PEX6

네임스페이스

더

목차

기능.

관련 질병

레퍼런스

추가 정보

외부 링크