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

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ 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.
↑ ^۸٫۰ ^۸٫۱ "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.
↑ ^۹٫۰ ^۹٫۱ "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

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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.
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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.
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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.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ 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] ۸٫۰ ^۸٫۱ "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] ۹٫۰ ^۹٫۱ "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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