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Aliases for PLAA Gene

Aliases for PLAA Gene

  • Phospholipase A2 Activating Protein 2 3 5
  • PLA2P 3 4
  • PLAP 3 4
  • Phospholipase A-2-Activating Protein 3
  • DOA1 Homolog (S. Cerevisiae) 2
  • DOA1 Homolog 3
  • NDMSBA 3
  • DOA1 3

External Ids for PLAA Gene

Previous GeneCards Identifiers for PLAA Gene

  • GC09M027215
  • GC09M026894
  • GC09M026856

Summaries for PLAA Gene

GeneCards Summary for PLAA Gene

PLAA (Phospholipase A2 Activating Protein) is a Protein Coding gene. Diseases associated with PLAA include Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies and Microcephaly. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include binding and phospholipase A2 activator activity.

UniProtKB/Swiss-Prot for PLAA Gene

  • Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986).

Gene Wiki entry for PLAA Gene

Additional gene information for PLAA Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLAA Gene

Genomics for PLAA Gene

GeneHancer (GH) Regulatory Elements for PLAA Gene

Promoters and enhancers for PLAA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J026945 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 652.2 +0.6 637 3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 E2F8 ZNF207 IFT74 PLAA CAAP1 RN7SL100P
GH09J026889 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.5 +55.6 55551 3.8 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 CAAP1 GC09P026892 IFT74 LRRC19 PLAA ENSG00000232466
GH09J026974 Enhancer 0.8 Ensembl ENCODE 10.9 -28.7 -28707 3 CTCF MXI1 ZNF654 BACH1 USF2 KDM5A RAD21 POLR2A SMC3 HOMEZ IFT74 LRRC19 CAAP1 PLAA IFT74-AS1
GH09J027433 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 4.9 -486.6 -486646 1.8 PKNOX1 PLAA ENSG00000237734 LOC105376001 MOB3B
GH09J026894 Enhancer 0.2 ENCODE 11.2 +53.3 53292 0.2 CAAP1 GC09P026892 RN7SL100P IFT74 PLAA IFT74-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLAA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLAA gene promoter:
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • AP-2gamma
  • GR
  • GR-alpha
  • C/EBPalpha
  • c-Jun
  • c-Fos
  • AP-1

Genomic Locations for PLAA Gene

Genomic Locations for PLAA Gene
chr9:26,903,370-26,947,470
(GRCh38/hg38)
Size:
44,101 bases
Orientation:
Minus strand
chr9:26,903,368-26,947,468
(GRCh37/hg19)
Size:
44,101 bases
Orientation:
Minus strand

Genomic View for PLAA Gene

Genes around PLAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLAA Gene

Proteins for PLAA Gene

  • Protein details for PLAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y263-PLAP_HUMAN
    Recommended name:
    Phospholipase A-2-activating protein
    Protein Accession:
    Q9Y263
    Secondary Accessions:
    • Q53EU5
    • Q5VY33
    • Q9NUL8
    • Q9NVE9
    • Q9UF53
    • Q9Y5L1

    Protein attributes for PLAA Gene

    Size:
    795 amino acids
    Molecular mass:
    87157 Da
    Quaternary structure:
    • Interacts with ubiquitin (PubMed:19423704). Interacts with UBXN6, VCP and YOD1; may form a complex involved in macroautophagy (PubMed:27753622, PubMed:19887378).
    SequenceCaution:
    • Sequence=AAD03030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD42075.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD42075.1; Type=Frameshift; Positions=698; Evidence={ECO:0000305}; Sequence=BAA92105.1; Type=Erroneous termination; Positions=545; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAD97264.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB42881.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH72641.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLAA Gene

neXtProt entry for PLAA Gene

Post-translational modifications for PLAA Gene

  • Ubiquitination at Lys538, Lys456, Lys393, Lys325, isoforms=315, isoforms=311, and Lys259
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLAA Gene

Domains & Families for PLAA Gene

Gene Families for PLAA Gene

Suggested Antigen Peptide Sequences for PLAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y263

UniProtKB/Swiss-Prot:

PLAP_HUMAN :
  • The PUL domain is composed of 6 armadillo-like repeats and mediates the interaction with VCP C-terminus.
  • Belongs to the WD repeat PLAP family.
Domain:
  • The PUL domain is composed of 6 armadillo-like repeats and mediates the interaction with VCP C-terminus.
  • The PFU domain mediates interaction with ubiquitin.
Family:
  • Belongs to the WD repeat PLAP family.
genes like me logo Genes that share domains with PLAA: view

Function for PLAA Gene

Molecular function for PLAA Gene

UniProtKB/Swiss-Prot Function:
Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986).
UniProtKB/Swiss-Prot Induction:
Up-regulated by tumor necrosis factor alpha (TNF-alpha) (at protein level) (PubMed:18291623).
GENATLAS Biochemistry:
phospholipase A2 activating protein,possible tumor suppressor,member of the beta transducin protein superfamily

Phenotypes From GWAS Catalog for PLAA Gene

Gene Ontology (GO) - Molecular Function for PLAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 18775313
GO:0016005 phospholipase A2 activator activity TAS,IEA --
GO:0043130 ubiquitin binding IBA --
genes like me logo Genes that share ontologies with PLAA: view
genes like me logo Genes that share phenotypes with PLAA: view

Animal Models for PLAA Gene

MGI Knock Outs for PLAA:
  • Plaa Plaa<tm1(NCOM)Cmhd>

Animal Model Products

Clone Products

  • Addgene plasmids for PLAA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLAA Gene

Localization for PLAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLAA Gene

Nucleus. Cytoplasm. Cell junction, synapse. Note=Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains. {ECO:0000269 PubMed:27753622}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLAA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 3
mitochondrion 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 28007986
GO:0005737 cytoplasm IBA,IDA 27753622
GO:0030054 cell junction IEA --
GO:0045202 synapse ISS --
GO:0070062 extracellular exosome IDA 17076679
genes like me logo Genes that share ontologies with PLAA: view

Pathways & Interactions for PLAA Gene

genes like me logo Genes that share pathways with PLAA: view

Pathways by source for PLAA Gene

1 KEGG pathway for PLAA Gene

Gene Ontology (GO) - Biological Process for PLAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS 9931468
GO:0006693 prostaglandin metabolic process IEA,ISS --
GO:0006954 inflammatory response IEA --
GO:0007165 signal transduction TAS 9931468
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with PLAA: view

No data available for SIGNOR curated interactions for PLAA Gene

Drugs & Compounds for PLAA Gene

(2) Drugs for PLAA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PLAA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLAA: view

Transcripts for PLAA Gene

Unigene Clusters for PLAA Gene

Phospholipase A2-activating protein:
Representative Sequences:

Clone Products

  • Addgene plasmids for PLAA

Alternative Splicing Database (ASD) splice patterns (SP) for PLAA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b
SP1: - -
SP2:
SP3: - - -
SP4: -
SP5: -

Relevant External Links for PLAA Gene

GeneLoc Exon Structure for
PLAA
ECgene alternative splicing isoforms for
PLAA

Expression for PLAA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLAA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLAA Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for PLAA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.4), Lymph node (11.2), and Uterus (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLAA Gene



Protein tissue co-expression partners for PLAA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLAA Gene:

PLAA

SOURCE GeneReport for Unigene cluster for PLAA Gene:

Hs.27182

Evidence on tissue expression from TISSUES for PLAA Gene

  • Nervous system(4.7)
  • Kidney(4.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PLAA: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLAA Gene

Orthologs for PLAA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLAA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLAA 34 33
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLAA 34 33
  • 94.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLAA 34 33
  • 92.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plaa 33
  • 90.61 (n)
mouse
(Mus musculus)
Mammalia Plaa 16 34 33
  • 90.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PLAA 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves PLAA 34 33
  • 76.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLAA 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plaa 33
  • 72.24 (n)
Str.7262 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33906 33
zebrafish
(Danio rerio)
Actinopterygii plaa 34 33
  • 64.14 (n)
OneToOne
wufc45d08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7410 33
fruit fly
(Drosophila melanogaster)
Insecta Plap 34 35 33
  • 47.31 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008620 33
  • 46.1 (n)
worm
(Caenorhabditis elegans)
Secernentea ufd-3 34
  • 26 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14410g 33
  • 48.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOA1 34 33
  • 48.08 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER448W 33
  • 46.15 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G18860 33
  • 46.21 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lub1 33
  • 47.4 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00880 33
  • 45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Cin.15172 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15172 33
Species where no ortholog for PLAA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLAA Gene

ENSEMBL:
Gene Tree for PLAA (if available)
TreeFam:
Gene Tree for PLAA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLAA: view image

Paralogs for PLAA Gene

(3) SIMAP similar genes for PLAA Gene using alignment to 5 proteins:

  • PLAP_HUMAN
  • E5RIM3_HUMAN
  • H0YAU9_HUMAN
  • H0YBW4_HUMAN
  • H0YC16_HUMAN
genes like me logo Genes that share paralogs with PLAA: view

No data available for Paralogs for PLAA Gene

Variants for PLAA Gene

Sequence variations from dbSNP and Humsavar for PLAA Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs747956857 pathogenic, NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES, Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527] 26,946,978(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_079277 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527] p.Leu752Phe
rs1000135738 -- 26,924,519(-) T/C intron_variant
rs1000156281 -- 26,929,614(-) C/A intron_variant
rs1000216834 -- 26,917,939(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLAA Gene

Variant ID Type Subtype PubMed ID
esv3891647 CNV gain 25118596
nsv1015259 CNV gain 25217958
nsv1026827 CNV gain 25217958
nsv517269 CNV gain 19592680
nsv528614 CNV gain 19592680

Variation tolerance for PLAA Gene

Residual Variation Intolerance Score: 6.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLAA Gene

Human Gene Mutation Database (HGMD)
PLAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLAA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLAA Gene

Disorders for PLAA Gene

MalaCards: The human disease database

(2) MalaCards diseases for PLAA Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLAA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLAP_HUMAN
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527]: An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. {ECO:0000269 PubMed:28007986, ECO:0000269 PubMed:28413018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLAA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLAA: view

No data available for Genatlas for PLAA Gene

Publications for PLAA Gene

  1. Molecular characterization of cDNA for phospholipase A2-activating protein. (PMID: 9931468) Chopra AK … Peterson JW (Biochimica et biophysica acta 1999) 2 3 4 22 58
  2. Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21. (PMID: 10644453) Beatty BG … Seth A (Genomics 1999) 2 3 4 22 58
  3. Structure and function of the PLAA/Ufd3-p97/Cdc48 complex. (PMID: 19887378) Qiu L … Dhe-Paganon S (The Journal of biological chemistry 2010) 3 4 22 58
  4. Structural basis for ubiquitin recognition by a novel domain from human phospholipase A2-activating protein. (PMID: 19423704) Fu QS … Hu HY (The Journal of biological chemistry 2009) 3 4 22 58
  5. Alteration in the activation state of new inflammation-associated targets by phospholipase A2-activating protein (PLAA). (PMID: 18291623) Zhang F … Chopra AK (Cellular signalling 2008) 3 4 22 58

Products for PLAA Gene

Sources for PLAA Gene

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