PLA2G6

From Wikipedia, the free encyclopedia
Jump to: navigation, search
PLA2G6
Identifiers
Aliases PLA2G6, CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A, NBIA2B, PARK14, PLA2, PNPLA9, iPLA2, iPLA2beta, phospholipase A2 group VI
External IDs MGI: 1859152 HomoloGene: 2635 GeneCards: PLA2G6
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for PLA2G6
Genomic location for PLA2G6
Band 22q13.1 Start 38,111,495 bp[1]
End 38,205,690 bp[1]
RNA expression pattern
PBB GE PLA2G6 204691 x at fs.png

PBB GE PLA2G6 210647 x at fs.png

PBB GE PLA2G6 215938 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001199023
NM_001199024
NM_001199025
NM_016915

RefSeq (protein)

NP_001185952
NP_001185953
NP_001185954
NP_058611

Location (UCSC) Chr 22: 38.11 – 38.21 Mb Chr 22: 79.29 – 79.33 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

85 kDa calcium-independent phospholipase A2 is an enzyme that in humans is encoded by the PLA2G6 gene.[5][6][7][8]

Function[edit]

The protein encoded by this gene is a phospholipase A2 enzyme, a subclass of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, Fas receptor-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only two of them have been determined to date.[8]

Model organisms[edit]

Model organisms have been used in the study of PLA2G6 function. A conditional knockout mouse line called Pla2g6tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[9] Male and female animals underwent a standardized phenotypic screen[10] to determine the effects of deletion.[11][12][13][14] Additional screens performed: - In-depth immunological phenotyping.[15]

Clinical[edit]

Mutations in this gene have been associated with hereditary spastic paraplegia.[16]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184381 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042632 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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 2674697Freely accessible. PMID 19029121. 
  8. ^ a b "Entrez Gene: PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)". 
  9. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  10. ^ a b "International Mouse Phenotyping Consortium". 
  11. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  12. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  13. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  14. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207Freely accessible. PMID 23870131. 
  15. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 
  16. ^ 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

Further reading[edit]

  • 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 = Biochimie Et Biologie Cellulaire. 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. 
  • Ma Z, Wang X, Nowatzke W, Ramanadham S, Turk J (Apr 1999). "Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1". The Journal of Biological Chemistry. 274 (14): 9607–16. doi:10.1074/jbc.274.14.9607. PMID 10092647. 
  • 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 2194002Freely accessible. 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. 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.