PLA2G6

PLA2G6
معین‌کننده‌ها
نام‌های دیگر	PLA2G6, CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A, NBIA2B, PARK14, PLA2, PNPLA9, iPLA2, iPLA2beta, phospholipase A2 group VI
شناسه‌های بیرونی	OMIM: 603604 MGI: 1859152 HomoloGene: 2635 GeneCards: PLA2G6
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۵ (موش)
پایان	79,328,390 bp
الگوی گسترش RNA
	; ; ; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• phospholipase A2 activity; • ATP-dependent protein binding; • calmodulin binding; • calcium-independent phospholipase A2 activity; • hydrolase activity; • serine hydrolase activity; • protein kinase binding;
ترکیبات سلولی	• membrane; • microtubule organizing center; • میتوکندری; • extracellular space; • سیتوپلاسم; • سیتوزول;
فرایند زیستی	• positive regulation of ceramide biosynthetic process; • positive regulation of protein phosphorylation; • phosphatidylethanolamine acyl-chain remodeling; • urinary bladder smooth muscle contraction; • maternal process involved in female pregnancy; • Fc-gamma receptor signaling pathway involved in phagocytosis; • regulation of store-operated calcium channel activity; • positive regulation of protein kinase C signaling; • سوخت‌وساز لیپید; • positive regulation of cytosolic calcium ion concentration; • antibacterial humoral response; • حافظه; • response to endoplasmic reticulum stress; • کموتاکسی; • lipid catabolic process; • positive regulation of arachidonic acid secretion; • cardiolipin biosynthetic process; • positive regulation of release of cytochrome c from mitochondria; • positive regulation of exocytosis; • positive regulation of insulin secretion involved in cellular response to glucose stimulus; • دگرگشت; • negative regulation of synaptic transmission, glutamatergic; • phosphatidylcholine acyl-chain remodeling;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	8398
	53357
	ENSG00000184381
	ENSMUSG00000042632
	O60733
	P97819
	NM_001199562، NM_003560، NM_001349864، NM_001349865، NM_001349866، NM_001349867، NM_001349868، NM_001349869 NM_001004426، NM_001199562، NM_003560، NM_001349864، NM_001349865، NM_001349866، NM_001349867، NM_001349868، NM_001349869
	NM_001199024، NM_001199025، NM_016915، XM_006521152، XM_006521153، XM_006521154، XM_006521155، XM_006521156، XM_006521157، XM_006521158، XM_006521159، XM_006521160، XM_017316698، XM_017316699، XR_001781552، XM_030248657، XM_030248658، XR_003951405، XR_003951406، XR_003951407، XR_003951408، XR_003951409 NM_001199023، NM_001199024، NM_001199025، NM_016915، XM_006521152، XM_006521153، XM_006521154، XM_006521155، XM_006521156، XM_006521157، XM_006521158، XM_006521159، XM_006521160، XM_017316698، XM_017316699، XR_001781552، XM_030248657، XM_030248658، XR_003951405، XR_003951406، XR_003951407، XR_003951408، XR_003951409
	NP_001186491، NP_003551، XP_005261821، XP_005261822، XP_006724395، XP_011528724، XP_011528726، XP_011528727، XP_011528728، XP_016884472، XP_016884475، XP_016884476، XP_016884477، NP_001336793، NP_001336794، NP_001336795، NP_001336796، NP_001336797، NP_001336798، XP_024308048، XP_024308049، XP_024308050، XP_024308051، XP_024308052، XP_024308053 NP_001004426، NP_001186491، NP_003551، XP_005261821، XP_005261822، XP_006724395، XP_011528724، XP_011528726، XP_011528727، XP_011528728، XP_016884472، XP_016884475، XP_016884476، XP_016884477، NP_001336793، NP_001336794، NP_001336795، NP_001336796، NP_001336797، NP_001336798، XP_024308048، XP_024308049، XP_024308050، XP_024308051، XP_024308052، XP_024308053
	NP_001185953، NP_001185954، NP_058611، XP_006521216، XP_006521218، XP_006521219، XP_006521222، XP_017172187، XP_030104517، XP_036015396، XP_036015397، XP_036015398، XP_036015399، XP_036015400، XP_036015401، XP_036015402، XP_036015403، XP_036015404، XP_036015405، XP_036015406، XP_036015407، XP_036015408، XP_036015409، XP_036015410، XP_036015411 NP_001185952، NP_001185953، NP_001185954، NP_058611، XP_006521216، XP_006521218، XP_006521219، XP_006521222، XP_017172187، XP_030104517، XP_036015396، XP_036015397، XP_036015398، XP_036015399، XP_036015400، XP_036015401، XP_036015402، XP_036015403، XP_036015404، XP_036015405، XP_036015406، XP_036015407، XP_036015408، XP_036015409، XP_036015410، XP_036015411
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

فسفولیپاز ای۲ غیر وابسته به کلسیم با وزن مولکولی ۸۵ کیلو دالتون (انگلیسی: 85 kDa calcium-independent phospholipase A2) یا فسفولیپاز ای۲ گروه ۶ یک آنزیم است که در انسان توسط ژن «PLA2G6» واقع بر کروموزوم ۲۲ کدگذاری می‌شود.^[۴]^[۵]^[۶]^[۷]^[۸]^[۹]

عملکرد

این آنزیم در تنظیم سطح فسفاتیدیل کولین در پوستهٔ سلول نقش دارد.^[۱۰] این آنزیم همچنین در آسیلاسیون کاردیولیپین مؤثر است و وجودش برای تعیین جهت حرکت و سرعت کموتاکسی مونوسیت‌ها ضروری است.

اهمیت بالینی

جهش در ژن سازندهٔ این آنزیم در بروز بیماری‌های زیر نقش دارد:^[۱۱]^[۸]^[۹]

تخریب عصبی با تجمع آهن در مغز، نوع ۲ آ (NBIA2A)
تخریب عصبی با تجمع آهن در مغز، نوع ۲ بی (NBIA2B)
بیماری پارکینسون ۱۴ (PARK14)
پاراپلژی اسپاستیک ارثی

منابع

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042632 - 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.
↑ Larsson PK, Claesson HE, Kennedy BP (Jan 1998). "Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity". The Journal of Biological Chemistry. 273 (1): 207–14. doi:10.1074/jbc.273.1.207. PMID 9417066.
↑ Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (Sep 2006). "Characterization of the human patatin-like phospholipase family". Journal of Lipid Research. 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181.
↑ Kienesberger PC, Oberer M, Lass A, Zechner R (Apr 2009). "Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions". Journal of Lipid Research. 50 Suppl: S63-8. doi:10.1194/jlr.R800082-JLR200. PMC 2674697. PMID 19029121.
↑ "Entrez Gene: PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)". This article incorporates text from this source, which is in the public domain.
1 2 "PLA2G6 - 85/88 kDa calcium-independent phospholipase A2 - Homo sapiens (Human) - PLA2G6 gene & protein". Retrieved 2018-08-22. This article incorporates text available under the CC BY 4.0 license.
1 2 "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
↑ "PLA2G6". Genetics Home Reference. NCBI. This article incorporates text from this source, which is in the public domain.
↑ Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E (2017) PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet 92(5):534-539

مشارکت‌کنندگان ویکی‌پدیا. «PLA2G6». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۸ ژانویه ۲۰۱۹.

برای مطالعهٔ بیشتر

Schröder HC, Perovic S, Kavsan V, Ushijima H, Müller WE (1998). "Mechanisms of prionSc- and HIV-1 gp120 induced neuronal cell death". Neurotoxicology. 19 (4–5): 683–8. PMID 9745929.
Leslie CC (Feb 2004). "Regulation of arachidonic acid availability for eicosanoid production". Biochemistry and Cell Biology. 82 (1): 1–17. doi:10.1139/o03-080. PMID 15052324.
Turk J, Ramanadham S (Oct 2004). "The expression and function of a group VIA calcium-independent phospholipase A2 (iPLA2beta) in beta-cells". Canadian Journal of Physiology and Pharmacology. 82 (10): 824–32. doi:10.1139/y04-064. PMID 15573142.
Law MH, Cotton RG, Berger GE (Jun 2006). "The role of phospholipases A2 in schizophrenia". Molecular Psychiatry. 11 (6): 547–56. doi:10.1038/sj.mp.4001819. PMID 16585943.
Tang J, Kriz RW, Wolfman N, Shaffer M, Seehra J, Jones SS (Mar 1997). "A novel cytosolic calcium-independent phospholipase A2 contains eight ankyrin motifs". The Journal of Biological Chemistry. 272 (13): 8567–75. doi:10.1074/jbc.272.13.8567. PMID 9079687.
Mavoungou E, Georges-Courbot MC, Poaty-Mavoungou V, Nguyen HT, Yaba P, Delicat A, Georges AJ, Russo-Marie F (Sep 1997). "HIV and SIV envelope glycoproteins induce phospholipase A2 activation in human and macaque lymphocytes". Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology. 16 (1): 1–9. doi:10.1097/00042560-199709010-00001. PMID 9377118.
Larsson Forsell PK, Kennedy BP, Claesson HE (Jun 1999). "The human calcium-independent phospholipase A2 gene multiple enzymes with distinct properties from a single gene". European Journal of Biochemistry / FEBS. 262 (2): 575–85. doi:10.1046/j.1432-1327.1999.00418.x. PMID 10336645.
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
Kim SJ, Gershov D, Ma X, Brot N, Elkon KB (Sep 2002). "I-PLA(2) activation during apoptosis promotes the exposure of membrane lysophosphatidylcholine leading to binding by natural immunoglobulin M antibodies and complement activation". The Journal of Experimental Medicine. 196 (5): 655–65. doi:10.1084/jem.20020542. PMC 2194002. PMID 12208880.
Hichami A, Joshi B, Simonin AM, Khan NA (Nov 2002). "Role of three isoforms of phospholipase A2 in capacitative calcium influx in human T-cells". European Journal of Biochemistry / FEBS. 269 (22): 5557–63. doi:10.1046/j.1432-1033.2002.03261.x. PMID 12423354.
Cummings BS, McHowat J, Schnellmann RG (Mar 2004). "Role of an endoplasmic reticulum Ca2+-independent phospholipase A2 in cisplatin-induced renal cell apoptosis". The Journal of Pharmacology and Experimental Therapeutics. 308 (3): 921–8. doi:10.1124/jpet.103.060541. PMID 14634037.
Bao S, Jin C, Zhang S, Turk J, Ma Z, Ramanadham S (Feb 2004). "Beta-cell calcium-independent group VIA phospholipase A(2) (iPLA(2)beta): tracking iPLA(2)beta movements in response to stimulation with insulin secretagogues in INS-1 cells". Diabetes. 53 Suppl 1 (90001): S186-9. doi:10.2337/diabetes.53.2007.S186. PMID 14749286.
Tay HK, Melendez AJ (May 2004). "Fcgamma RI-triggered generation of arachidonic acid and eicosanoids requires iPLA2 but not cPLA2 in human monocytic cells". The Journal of Biological Chemistry. 279 (21): 22505–13. doi:10.1074/jbc.M308788200. PMC 3617246. PMID 15007079.
Tanaka H, Minakami R, Kanaya H, Sumimoto H (Aug 2004). "Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2gamma)". Biochemical and Biophysical Research Communications. 320 (4): 1284–90. doi:10.1016/j.bbrc.2004.05.225. PMID 15249229.

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042632 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9417066-4] Larsson PK, Claesson HE, Kennedy BP (Jan 1998). "Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity". The Journal of Biological Chemistry. 273 (1): 207–14. doi:10.1074/jbc.273.1.207. PMID 9417066.

[pmid16799181-5] Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (Sep 2006). "Characterization of the human patatin-like phospholipase family". Journal of Lipid Research. 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181.

[pmid19029121-6] Kienesberger PC, Oberer M, Lass A, Zechner R (Apr 2009). "Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions". Journal of Lipid Research. 50 Suppl: S63-8. doi:10.1194/jlr.R800082-JLR200. PMC 2674697. PMID 19029121.

[entrez-7] "Entrez Gene: PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)". This article incorporates text from this source, which is in the public domain.

[uniprot-8] 1 2 "PLA2G6 - 85/88 kDa calcium-independent phospholipase A2 - Homo sapiens (Human) - PLA2G6 gene & protein". Retrieved 2018-08-22. This article incorporates text available under the CC BY 4.0 license.

[uniprot0-9] 1 2 "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.

[GHR-10] "PLA2G6". Genetics Home Reference. NCBI. This article incorporates text from this source, which is in the public domain.

[Ozes2017-11] Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E (2017) PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet 92(5):534-539

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