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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. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include binding and phospholipase A2 activator activity.

UniProtKB/Swiss-Prot for PLAA Gene

  • May play a role in protein ubiquitination, sorting and degradation through its association with VCP. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes.

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

Regulatory Elements for PLAA Gene

Enhancers for PLAA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H026889 1.1 ENCODE 11.5 +55.6 55552 3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 IFT74 LRRC19 PLAA CAAP1 ENSG00000232466
GH09H026974 0.9 Ensembl ENCODE 10.9 -28.7 -28708 2 CTCF ZNF654 MXI1 USF2 KDM5A RAD21 POLR2A SMC3 HOMEZ TRIM28 IFT74 LRRC19 CAAP1 PLAA IFT74-AS1
GH09H027433 0.9 FANTOM5 ENCODE dbSUPER 4.9 -486.6 -486646 1 PKNOX1 PLAA ENSG00000237734 LOC105376001
GH09H026945 1.4 FANTOM5 ENCODE 2.2 +0.6 638 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 CAAP1 IFT74 PLAA RN7SL100P
GH09H026894 0.2 ENCODE 11.2 +53.3 53293 0 IFT74 PLAA IFT74-AS1 RN7SL100P GC09P026892
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLAA on UCSC Golden Path with GeneCards custom track

Promoters for PLAA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234127 570 2201 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207

Genomic Location for PLAA Gene

Chromosome:
9
Start:
26,903,370 bp from pter
End:
26,947,470 bp from pter
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 Lys259, Lys311, Lys315, posLast=325325, Lys393, posLast=456456, and Lys538
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLAA Gene

Domains & Families for PLAA Gene

Gene Families for PLAA Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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

GENATLAS Biochemistry:
phospholipase A2 activating protein,possible tumor suppressor,member of the beta transducin protein superfamily
UniProtKB/Swiss-Prot Function:
May play a role in protein ubiquitination, sorting and degradation through its association with VCP. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes.

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 IPI 18775313
GO:0016005 phospholipase A2 activator activity IEA,TAS --
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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PLAA
  • Applied Biological Materials Clones for PLAA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for PLAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLAA Gene

Cytoplasm. 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 4
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 --
GO:0005737 cytoplasm IBA,IDA 27753622
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:0006954 inflammatory response IEA --
GO:0007165 signal transduction TAS 9931468
GO:0010992 ubiquitin homeostasis IBA --
GO:0016236 macroautophagy IMP 27753622
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PLAA
  • Applied Biological Materials Clones for PLAA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia PLAA 33 34
  • 94.47 (n)
cow
(Bos Taurus)
Mammalia PLAA 33 34
  • 92.66 (n)
rat
(Rattus norvegicus)
Mammalia Plaa 33
  • 90.61 (n)
mouse
(Mus musculus)
Mammalia Plaa 33 16 34
  • 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 33 34
  • 76.92 (n)
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 33 34
  • 64.14 (n)
wufc45d08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7410 33
fruit fly
(Drosophila melanogaster)
Insecta Plap 35 33 34
  • 47.31 (n)
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 33 34
  • 48.08 (n)
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
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)

Paralogs for PLAA Gene

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

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 Sequence Context AA Info Type
rs1000135738 -- 26,924,519(+) TCTTA(C/T)TTGCC intron-variant
rs1000156281 -- 26,929,614(+) CTACC(A/C)TGAGC intron-variant
rs1000216834 -- 26,917,939(+) CCCAC(A/G)TGCAA intron-variant
rs1000305857 -- 26,928,379(+) TAATG(A/T)CCCAA nc-transcript-variant, reference, missense
rs1000373458 -- 26,922,709(+) TCACC(C/G)AGGCT 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)

Relevant External Links for PLAA Gene

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

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

Disorders for PLAA Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLAA Gene - From: OMIM and ClinVar

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

Relevant External Links for PLAA

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PLAA Gene

Publications for PLAA Gene

  1. 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 60
  2. Molecular characterization of cDNA for phospholipase A2-activating protein. (PMID: 9931468) Chopra AK … Peterson JW (Biochimica et biophysica acta 1999) 2 3 4 22 60
  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 60
  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 60
  5. Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region. (PMID: 10571045) Ruiz A … Estivill X (Gene 1999) 3 4 22 60

Products for PLAA Gene

  • Addgene plasmids for PLAA

Sources for PLAA Gene

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