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

Gene ID: 9373, updated on 3-Nov-2024

Summary

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Official Symbol
PLAAprovided by HGNC
Official Full Name
phospholipase A2 activating proteinprovided by HGNC
Primary source
HGNC:HGNC:9043
See related
Ensembl:ENSG00000137055 MIM:603873; AllianceGenome:HGNC:9043
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOA1; PLAP; PLA2P; NDMSBA
Summary
Predicted to enable ubiquitin binding activity. Involved in cellular response to lipopolysaccharide; macroautophagy; and positive regulation of phospholipase A2 activity. Located in cytoplasm; extracellular exosome; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 5.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See PLAA in Genome Data Viewer
Location:
9p21.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (26903372..26947242, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (26913987..26957845, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26903370..26947240, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene caspase activity and apoptosis inhibitor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26892199-26892778 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26892779-26893358 Neighboring gene H3 histone pseudogene 31 Neighboring gene RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene MPRA-validated peak7213 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26936699-26937379 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946315-26946990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946991-26947664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26955622-26956357 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26956358-26957092 Neighboring gene Sharpr-MPRA regulatory region 4046 Neighboring gene IFT74 antisense RNA 1 Neighboring gene intraflagellar transport 74 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26975626-26976196 Neighboring gene leucine rich repeat containing 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PLAA suppresses ovarian cancer metastasis via METTL3-mediated m(6)A modification of TRPC3 mRNA.
    Title: PLAA suppresses ovarian cancer metastasis via METTL3-mediated m(6)A modification of TRPC3 mRNA.
  2. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures.
    Title: PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
  3. 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.
    Title: VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.
  4. This study presented that Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
    Title: Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
  5. 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]
    Title: 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.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
  8. Structural basis for ubiquitin recognition by a novel domain from the human phospholipase A2-activating protein
    Title: Structural basis for ubiquitin recognition by a novel domain from human phospholipase A2-activating protein.
  9. identified one stimulatory element, with Sp1 binding sites, and one inhibitory element, in exon 1 of the plaa gene
    Title: Alteration in the activation state of new inflammation-associated targets by phospholipase A2-activating protein (PLAA).
  10. Function assignment to conserved residues in mammalian alkaline phosphatases.
    Title: Function assignment to conserved residues in mammalian alkaline phosphatases.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
MedGen: C4479631 OMIM: 617527 GeneReviews: Not available
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EBI GWAS Catalog

Description
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11281, FLJ12699

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phospholipase A2 activator activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cellular response to lipopolysaccharide IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein K63-linked ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in phospholipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of phospholipase A2 activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of synaptic vesicle recycling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in prostaglandin metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in ubiquitin recycling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
phospholipase A-2-activating protein
Names
DOA1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001031689.3 → NP_001026859.1  phospholipase A-2-activating protein isoform 1

    See identical proteins and their annotated locations for NP_001026859.1

    Status: VALIDATED

    Source sequence(s)
    AL356133, BC032551, DA591576
    Consensus CDS
    CCDS35000.1
    UniProtKB/Swiss-Prot
    Q53EU5, Q5VY33, Q9NUL8, Q9NVE9, Q9UF53, Q9Y263, Q9Y5L1
    Related
    ENSP00000380460.3, ENST00000397292.8
    Conserved Domains (6) summary
    COG2319
    Location:6 → 296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10 → 297
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05831
    Location:298 → 352
    GAGE; GAGE protein
    pfam08324
    Location:536 → 789
    PUL; PUL domain
    pfam09070
    Location:346 → 458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:26 → 63
    7WD40; WD40 repeat [structural motif]

  2. NM_001321546.2 → NP_001308475.1  phospholipase A-2-activating protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL356133
    Conserved Domains (6) summary
    COG2319
    Location:6 → 296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10 → 297
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05831
    Location:298 → 352
    GAGE; GAGE protein
    pfam08324
    Location:513 → 766
    PUL; PUL domain
    pfam09070
    Location:346 → 458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:26 → 63
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    26903372..26947242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424083.1 → XP_047280039.1  phospholipase A-2-activating protein isoform X1

    Related
    ENSP00000429372.1, ENST00000520884.5

  2. XM_011518072.4 → XP_011516374.1  phospholipase A-2-activating protein isoform X3

    UniProtKB/TrEMBL
    E5RIM3
    Conserved Domains (5) summary
    COG2319
    Location:6 → 296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10 → 297
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05831
    Location:298 → 352
    GAGE; GAGE protein
    pfam09070
    Location:346 → 458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:69 → 110
    7WD40; WD40 repeat [structural motif]

  3. XM_017015319.3 → XP_016870808.1  phospholipase A-2-activating protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    26913987..26957845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364180.1 → XP_054220155.1  phospholipase A-2-activating protein isoform X1

  2. XM_054364181.1 → XP_054220156.1  phospholipase A-2-activating protein isoform X2

  3. XM_054364182.1 → XP_054220157.1  phospholipase A-2-activating protein isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004253.3: Suppressed sequence

    Description
    NM_004253.3: This RefSeq was permanently suppressed because it contains a CDS that is incomplete at the 5' end.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y263.2 GenPept UniProtKB/Swiss-Prot:Q9Y263

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