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    PLAA phospholipase A2 activating protein [ Homo sapiens (human) ]

    Gene ID: 9373, updated on 17-Jun-2019

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures.

    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
    Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P., Free PMC Article

    07/29/2017
    Upon damage, p97 translocates to lysosomes and there cooperates with a distinct set of cofactors including UBXD1, PLAA, and the deubiquitinating enzyme YOD1, which we term ELDR components for Endo-Lysosomal Damage Response.

    VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.
    Papadopoulos C, Kirchner P, Bug M, Grum D, Koerver L, Schulze N, Poehler R, Dressler A, Fengler S, Arhzaouy K, Lux V, Ehrmann M, Weihl CC, Meyer H., Free PMC Article

    07/15/2017
    This study presented that Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

    Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
    Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D, Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML, Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y, Chopra AK., Free PMC Article

    05/13/2017
    This review provides evidence that 1,25-dihydroxy vitamin D3 stimulates PLA2 via PLAA and CaMKII, a process initiated by Pdia3/PLAA interaction, which further triggers CaMKII-dependent PLA2 activation. [review]

    Membrane-mediated actions of 1,25-dihydroxy vitamin D3: a review of the roles of phospholipase A2 activating protein and Ca(2+)/calmodulin-dependent protein kinase II.
    Doroudi M, Schwartz Z, Boyan BD., Free PMC Article

    04/25/2015
    Observational study of gene-disease association. (HuGE Navigator)

    Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
    Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA, Goldstein AM., Free PMC Article

    09/15/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
    Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA., Free PMC Article

    04/7/2010
    Structural basis for ubiquitin recognition by a novel domain from the human phospholipase A2-activating protein

    Structural basis for ubiquitin recognition by a novel domain from human phospholipase A2-activating protein.
    Fu QS, Zhou CJ, Gao HC, Jiang YJ, Zhou ZR, Hong J, Yao WM, Song AX, Lin DH, Hu HY., Free PMC Article

    01/21/2010
    identified one stimulatory element, with Sp1 binding sites, and one inhibitory element, in exon 1 of the plaa gene

    Alteration in the activation state of new inflammation-associated targets by phospholipase A2-activating protein (PLAA).
    Zhang F, Sha J, Wood TG, Galindo CL, Garner HR, Burkart MF, Suarez G, Sierra JC, Agar SL, Peterson JW, Chopra AK., Free PMC Article

    01/21/2010
    Function assignment to conserved residues in mammalian alkaline phosphatases.

    Function assignment to conserved residues in mammalian alkaline phosphatases.
    Kozlenkov A, Manes T, Hoylaerts MF, Millán JL.

    01/21/2010
    PLAP inhibits sPLA2-triggered release of fatty acids from erythrocyte membranes

    Bimodal regulatory effect of melittin and phospholipase A2-activating protein on human type II secretory phospholipase A2.
    Koumanov K, Momchilova A, Wolf C.

    01/21/2010
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