PLPPR1 (phospholipid phosphatase related 1)

Gene

• Entrez ID: 54886
• Gene name: Phospholipid phosphatase related 1
• Gene symbol: PLPPR1
• Synonyms (NCBI Gene): LPPR1, PRG-3, PRG3
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perfor

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006644	Process	Phospholipid metabolic process	IBA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007399	Process	Nervous system development	ISS
GO:0008195	Function	Phosphatidate phosphatase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0046839	Process	Phospholipid dephosphorylation	IBA
GO:0046839	Process	Phospholipid dephosphorylation	ISS
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	ISS

Other IDs

• MIM: 619590
• HGNC: 25993
• e!Ensembl: ENSG00000148123

Protein

• UniProt ID: Q8TBJ4
• Protein name: Phospholipid phosphatase-related protein type 1 (Inactive 2-lysophosphatidate phosphatase PLPPR1) (Lipid phosphate phosphatase-related protein type 1) (Plasticity-related gene 3 protein) (PRG-3)
• Protein function: May play a role in neurite outgrowth and neurogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	127 → 280	PAP2 superfamily	Family

• Sequence:

  MAVGNNTQRSYSIIPCFIFVELVIMAGTVLLAYYFECTDTFQVHIQGFFCQDGDLMKPYP
  GTEEESFITPLVLYCVLAATPTAIIFIGEISMYFIKSTRESLIAQEKTILTGECCYLNPL
  LRRIIRFTGVFAFGLFATDIFVNAGQVVTGHLTPYFLTVCKPNYTSADCQAHHQFINNGN
  ICTGDLEVIEKARRSFPSKHAALSIYSALYATMYITSTIKTKSSRLAKPVLCLGTLCTAF
  LTGLNRVSEYRNHCSDVIAGFILGTAVALFLGMCVVHNFKGTQGSPSKPKPEDPRGVPLM
  AFPRIESPLETLSAQNHSASMTEVT

• Sequence length: 325

Pathways

Reactome:

Lysosphingolipid and LPA receptors

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
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	29965997	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	30338293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	23266720		★☆☆☆☆ Found in Text Mining only