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

Gene ID: 9373, updated on 7-Dec-2018

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See PLAA in Genome Data Viewer
Location:
9p21.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (26903370..26947473, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26903368..26947468, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene caspase activity and apoptosis inhibitor 1 Neighboring gene RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene IFT74 antisense RNA 1 Neighboring gene intraflagellar transport 74 Neighboring gene leucine rich repeat containing 19

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
MedGen: C4479631 OMIM: 617527 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11281, FLJ12699

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001031689.3NP_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
    Q9Y263
    Related
    ENSP00000380460.3, ENST00000397292.7
    Conserved Domains (6) summary
    COG2319
    Location:6296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10297
    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:298352
    GAGE; GAGE protein
    pfam08324
    Location:536789
    PUL; PUL domain
    pfam09070
    Location:346458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:2663
    7WD40; WD40 repeat [structural motif]
  2. NM_001321546.1NP_001308475.1  phospholipase A-2-activating protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL356133
    Conserved Domains (6) summary
    COG2319
    Location:6296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10297
    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:298352
    GAGE; GAGE protein
    pfam08324
    Location:513766
    PUL; PUL domain
    pfam09070
    Location:346458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:2663
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    26903370..26947473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518072.3XP_011516374.1  phospholipase A-2-activating protein isoform X2

    Conserved Domains (5) summary
    COG2319
    Location:6296
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:10297
    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:298352
    GAGE; GAGE protein
    pfam09070
    Location:346458
    PFU; PFU (PLAA family ubiquitin binding)
    sd00039
    Location:69110
    7WD40; WD40 repeat [structural motif]
  2. XM_017015319.2XP_016870808.1  phospholipase A-2-activating protein isoform X1

RNA

  1. XR_001746420.2 RNA Sequence

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.
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