Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8611
Gene name	Phospholipid phosphatase 1
Gene symbol	PLPP1
Synonyms (NCBI Gene)	LLP1aLPP1PAP-2aPAP2PPAP2A
Chromosome	5
Chromosome location	5q11.2
Summary	The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme i

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000810	Function	Diacylglycerol diphosphate phosphatase activity	IEA
GO:0000810	Function	Diacylglycerol diphosphate phosphatase activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9705349
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IBA
GO:0006644	Process	Phospholipid metabolic process	IDA	9305923, 9705349, 15461590
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006670	Process	Sphingosine metabolic process	IDA	9705349
GO:0006670	Process	Sphingosine metabolic process	IEA
GO:0006672	Process	Ceramide metabolic process	IDA	9305923, 9705349
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	IMP	15461590
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	9468526
GO:0008195	Function	Phosphatidate phosphatase activity	IBA
GO:0008195	Function	Phosphatidate phosphatase activity	IDA	9305923, 9468526, 9705349
GO:0008195	Function	Phosphatidate phosphatase activity	IEA
GO:0008195	Function	Phosphatidate phosphatase activity	NAS	9570154
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	9468526
GO:0016020	Component	Membrane	IDA	9305923, 9468526
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	14527693
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	NAS	9468526
GO:0030149	Process	Sphingolipid catabolic process	TAS
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	TAS	9468526
GO:0030521	Process	Androgen receptor signaling pathway	NAS	9468526
GO:0042392	Function	Sphingosine-1-phosphate phosphatase activity	IDA	9705349
GO:0042392	Function	Sphingosine-1-phosphate phosphatase activity	IEA
GO:0042392	Function	Sphingosine-1-phosphate phosphatase activity	TAS
GO:0042577	Function	Lipid phosphatase activity	IDA	15461590, 16464866
GO:0042577	Function	Lipid phosphatase activity	IEA
GO:0045121	Component	Membrane raft	IDA	17005594
GO:0045121	Component	Membrane raft	IEA
GO:0046839	Process	Phospholipid dephosphorylation	IBA
GO:0046839	Process	Phospholipid dephosphorylation	IDA	9305923, 9705349, 15461590, 16464866
GO:0046839	Process	Phospholipid dephosphorylation	IEA
GO:0046839	Process	Phospholipid dephosphorylation	TAS	9468526
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0106235	Function	Ceramide-1-phosphate phosphatase activity	IDA	9705349
GO:0106235	Function	Ceramide-1-phosphate phosphatase activity	IEA

MIM	HGNC	e!Ensembl
607124	9228	ENSG00000067113

O14494

Protein name

Phospholipid phosphatase 1 (EC 3.1.3.-) (EC 3.1.3.106) (EC 3.1.3.4) (EC 3.6.1.75) (Lipid phosphate phosphohydrolase 1) (PAP2-alpha) (Phosphatidate phosphohydrolase type 2a) (Phosphatidic acid phosphatase 2a) (PAP-2a) (PAP2a)

Protein function

Magnesium-independent phospholipid phosphatase of the plasma membrane that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, diacylglycerol pyrophosp

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01569	PAP2	101 → 251	PAP2 superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest expression found in prostate (PubMed:9305923). Found to be down-regulated in colon adenocarcinomas (PubMed:9570154). {ECO:0000269|PubMed:9305923, ECO:0000269|PubMed:9570154}.; TISSUE SPECIFICITY: [Isoform

Sequence

MFDKTRLPYVALDVLCVLLAGLPFAILTSRHTPFQRGVFCNDESIKYPYKEDTIPYALLG
GIIIPFSIIVIILGETLSVYCNLLHSNSFIRNNYIATIYKAIGTFLFGAAASQSLTDIAK
YSIGRLRPHFLDVCDPDWSKINCSDGYIEYYICRGNAERVKEGRLSFYSGHSSFSMYCML
FVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTGLIQGALVAI
LVAVYVSDFFKERTSFKERKEEDSHTTLHETPTTGNHYPSNHQP

Sequence length

284

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Glycerophospholipid metabolism Ether lipid metabolism Sphingolipid metabolism Metabolic pathways Phospholipase D signaling pathway Fc gamma R-mediated phagocytosis Fat digestion and absorption Choline metabolism in cancer		Sphingolipid de novo biosynthesis

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	9468526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31534541, 7542253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36936948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12382018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28844958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28698893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28698893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31534541, 7542253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31546971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31534541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25210149		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	14506139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PLPP1 (phospholipid phosphatase 1)