PLAA (phospholipase A2 activating protein)

2003-02-01  

Identity

HGNC
PLAA
LOCATION
9p21.2
LOCUSID
9373
ALIAS
DOA1,NDMSBA,PLA2P,PLAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9373
MIM: 603873
HGNC: 9043
Ensembl: ENSG00000137055

Variants:

dbSNP: 9373
ClinVar: 9373
TCGA: ENSG00000137055
COSMIC: PLAA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137055ENST00000397292Q9Y263
ENSG00000137055ENST00000487173H0YC16
ENSG00000137055ENST00000517642H0YBW4
ENSG00000137055ENST00000520884E5RIM3
ENSG00000137055ENST00000523212H0YAU9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
201851492010Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.70
277536222017VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.49
205748432010Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.18
119375102002Function assignment to conserved residues in mammalian alkaline phosphatases.16
194237042009Structural basis for ubiquitin recognition by a novel domain from human phospholipase A2-activating protein.8
254487372015Membrane-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.8
284130182017PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.7
144996682003Bimodal regulatory effect of melittin and phospholipase A2-activating protein on human type II secretory phospholipase A2.4
182916232008Alteration in the activation state of new inflammation-associated targets by phospholipase A2-activating protein (PLAA).4
280079862017Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.2

Citation

Dessen P

PLAA (phospholipase A2 activating protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41735/plaa