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FLASH GENE
Symbol PLAA contributors: mct/npt - updated : 06-06-2017
HGNC name phospholipase A2-activating protein
HGNC id 9043
Corresponding disease
PLAAND PLAA-associated neurodevelopmental disorder
Location 9p21.2      Physical location : 26.903.368 - 26.947.468
Synonym name DOA1 homolog
Synonym symbol(s) PLAP, PLA2P, FLJ11281, FLJ12699, DOA1
DNA
TYPE functioning gene
STRUCTURE 44.10 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - IFN1@ - CDKN2A - CDKN2B - D9S1870 - D9S171 - D9S1679 - D9S265 - D9S259 - PLAA - cen
Authors Beatty (99)
Physical map
LOC51198 9p21-p22 susceptibility protein NSG-x CDKN2A 9p21.3 cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) CDKN2B 9p21.3 cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) LOC392295 9 similar to ubiquitin A-52 residue ribosomal protein fusion product 1 DMRTA1 9p21.2 DMRT-like family A1 LOC392296 9 similar to Chloride intracellular channel protein 4 (Intracellular chloride ion channel protein p64H1) LOC138267 9p21.2 similar to hypothetical protein ELAVL2 9p21 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) LOC389707 9 LOC389707 LOC389708 9 hypothetical gene supported by BC017510; BC046919 FLJ13657 PLAA 9p21 phospholipase A2-activating protein CCDC2 9p21.1 coiled-coil domain containing 2 LRRC19 9 leucine rich repeat containing 19 TEK 9p21 TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) LOC392297 9 similar to elongin A binding protein 1 C9orf11 9p21 chromosome 9 open reading frame 11 MOB3B IFNK  interferon, kappa C9orf72 9p21.1 chromosome 9 open reading frame 72 LOC392298 9 similar to meningioma-expressed antigen 11 FLJ31810 9p21.1-p13.3 hypothetical protein FLJ31810 LOC286239 9p13.3 similar to NAD-dependent malic enzyme, mitochondrial precursor (NAD-ME) (Malic enzyme 2) LOC389709 9 hypothetical gene supported by AY117688; NM_018158 LOC340493 9p13.3 similar to Heterogeneous nuclear ribonucleoprotein G (hnRNP G) (RNA binding motif protein, X chromosome) (Glycoprotein p43) LOC158200 9p13.3 similar to 40S ribosomal protein S26 LOC392299 9 similar to Ferritin light chain (Ferritin L subunit) LOC138412 9p13.3 similar to ADP,ATP carrier protein, liver isoform T2 (ADP/ATP translocase 3) (Adenine nucleotide translocator 3) (ANT 3) LOC392300 9 similar to High mobility group protein 4-like (HMG-4L)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 4954 87.1 795 - 1999 10644453
13 - 4808 - 772 - 1999 10644453
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen   highly
 thymus   highly
Reproductivefemale systemuteruscervix highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • WD40 repeat motifs at the N terminus
  • three different protein kinase consensus domains
  • a core domain from the PLAA family ubiquitin-binding region of human PLAA (AAs 386-465, namely PFUC) that can bind Ub
  • HOMOLOGY
    interspecies ortholog to yeast Doa1/Ufd3
    Homologene
    FAMILY
  • beta transducin protein superfamily
  • WD repeat PLAP family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • signaling molecule that regulates the production of prostaglandins (PGE(2)) and tumor necrosis factor (TNF1)
  • required for 1alpha,25(OH)2D3 signaling in growth plate chondrocytes
  • specific activator of PLA2 in growth plate chondrocytes, and may mediates the membrane effect of 1alpha,25(OH)2D3, thereby modulating physiological response
  • is required for ubiquitin-dependent trafficking of receptors from early to late endosomes/multivesicular bodies (MVBs)
  • conserved role for mammalian PLAA in Ub-mediated trafficking of membrane proteins though the endolysosomal pathway, and it is essential for mammalian embryonic development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is required for 1alpha,25-dihydroxyvitamin D3 dependent rapid activation of protein kinase C via PDIA3
  • PLAA is located in caveolae, where it interacts with PDIA3 and CAV1 to initiate rapid signaling via CAMK2A, CAMK2B
  • VCP/p97 cooperates with YOD1, UBXN6 and PLAA to drive clearance of ruptured lysosomes by autophagy
  • cell & other
    REGULATION
    induced by TNF-alpha can perpetuate inflammation by enhancing activation of PLA(2) and NF-kappaB
    ASSOCIATED DISORDERS
    corresponding disease(s) PLAAND
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Plaa-null mice were perinatal lethal with reduced brain levels of prostaglandin E2