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Gene Gene information from NCBI Gene database.
Entrez ID 51365
Gene name Phospholipase A1 member A
Gene symbol PLA1A
Synonyms (NCBI Gene)
PS-PLA1PSPLA1
Chromosome 3
Chromosome location 3q13.33
Summary The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants enc
miRNA miRNA information provided by mirtarbase database.
14 Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT1238350 hsa-miR-1470 CLIP-seq
MIRT1238351 hsa-miR-3607-3p CLIP-seq
MIRT1238352 hsa-miR-3662 CLIP-seq
MIRT1238353 hsa-miR-3686 CLIP-seq
MIRT1238354 hsa-miR-4287 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0002080 Component Acrosomal membrane IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
GO:0006629 Process Lipid metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607460 17661 ENSG00000144837
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53H76
Protein name Phospholipase A1 member A (EC 3.1.1.111) (Phosphatidylserine-specific phospholipase A1) (PS-PLA1)
Protein function Hydrolyzes the ester bond of the acyl group attached at the sn-1 position of phosphatidylserines (phospholipase A1 activity) and 1-acyl-2-lysophosphatidylserines (lysophospholipase activity) in the pathway of phosphatidylserines acyl chain remod
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00151 Lipase 15 → 336 Lipase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in placenta, prostate and liver. Weakly or not expressed in skin, leukocytes, platelets, colon, spleen, lung, muscle and kidney. {ECO:0000269|PubMed:9074642}.
Sequence
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycerophospholipid metabolism Acyl chain remodelling of PS
Ras signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28948974
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28948974
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31131562
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32060356 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 28143894
★★★★★
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 30849106
★★★★★
★☆☆☆☆
Found in Text Mining only
Elliptocytosis, Hereditary Elliptocytosis BEFREE 21839655
★★★★★
★☆☆☆☆
Found in Text Mining only
Familial primary pulmonary hypertension Pulmonary Hypertension BEFREE 24224048
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 23376982, 30992545
★★★★★
★☆☆☆☆
Found in Text Mining only
Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa BEFREE 11952829
★★★★★
★☆☆☆☆
Found in Text Mining only