PLBD1 (phospholipase B domain containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79887
Gene name Phospholipase B domain containing 1
Gene symbol PLBD1
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12p13.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IDA 40146846
GO:0004620 Function Phospholipase activity IBA
GO:0004620 Function Phospholipase activity IDA 40146846
GO:0005576 Component Extracellular region IBA
GO:0005615 Component Extracellular space IDA 25645918
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618486 26215 ENSG00000121316
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P4A8
Protein name Phospholipase B-like 1 (EC 3.1.1.-) (LAMA-like protein 1) (Lamina ancestor homolog 1) (Phospholipase B domain-containing protein 1) [Cleaved into: Phospholipase B-like 1 chain A; Phospholipase B-like 1 chain B; Phospholipase B-like 1 chain C]
Protein function In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04916 Phospholip_B 18 → 544 Phospholipase B Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neutrophils and monocytes. {ECO:0000269|PubMed:19019078}.
Sequence
Sequence length 553
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Acyl chain remodelling of PC
Acyl chain remodelling of PE
Acyl chain remodelling of PI
Hydrolysis of LPC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs762382039 RCV005926894
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Infarction Associate 25135788
Glioblastoma Associate 39684695
Glioma Associate 37934565
Ischemic Stroke Associate 25135788
Lymphoma Large B Cell Diffuse Associate 39261532
Myocardial Infarction Associate 31756302
Neoplasms Associate 39684695
Stroke Associate 25135788
Ventricular Dysfunction Left Associate 31756302