PLBD1 (phospholipase B domain containing 1)

Gene

• 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)

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
GO:0005764	Component	Lysosome	IDA	40146846
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009395	Process	Phospholipid catabolic process	IBA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IDA	40146846

Other IDs

• MIM: 618486
• HGNC: 26215
• e!Ensembl: ENSG00000121316

Protein

• UniProt ID: 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:

  MTRGGPGGRPGLPQPPPLLLLLLLLPLLLVTAEPPKPAGVYYATAYWMPAEKTVQVKNVM
  DKNGDAYGFYNNSVKTTGWGILEIRAGYGSQTLSNEIIMFVAGFLEGYLTAPHMNDHYTN
  LYPQLITKPSIMDKVQDFMEKQDKWTRKNIKEYKTDSFWRHTGYVMAQIDGLYVGAKKRA
  ILEGTKPMTLFQIQFLNSVGDLLDLIPSLSPTKNGSLKVFKRWDMGHCSALIKVLPGFEN
  ILFAHSSWYTYAAMLRIYKHWDFNVIDKDTSSSRLSFSSYPGFLESLDDFYILSSGLILL
  QTTNSVFNKTLLKQVIPETLLSWQRVRVANMMADSGKRWADIFSKYNSGTYNNQYMVLDL
  KKVKLNHSLDKGTLYIVEQIPTYVEYSEQTDVLRKGYWPSYNVPFHEKIYNWSGYPLLVQ
  KLGLDYSYDLAPRAKIFRRDQGKVTDTASMKYIMRYNNYKKDPYSRGDPCNTICCREDLN
  SPNPSPGGCYDTKVADIYLASQYTSYAISGPTVQGGLPVFRWDRFNKTLHQGMPEVYNFD
  FITMKPILKLDIK

• Sequence length: 553

Pathways

Reactome:

Acyl chain remodelling of PC
Acyl chain remodelling of PE
Acyl chain remodelling of PI
Hydrolysis of LPC

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cerebral Infarction	Ischemic stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	39684695	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37934565	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31756302	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	15496427		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25135788	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	31756302	Associate	★☆☆☆☆ Found in Text Mining only