LIPI (lipase I)

Gene

• Entrez ID: 149998
• Gene name: Lipase I
• Gene symbol: LIPI
• Synonyms (NCBI Gene): CT17, LPDL, PLA1C, PRED5, mPA-PLA1 beta
• Chromosome: 21
• Chromosome location: 21q11.2
• Summary: The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1110654	hsa-miR-148a	CLIP-seq
MIRT1110655	hsa-miR-148b	CLIP-seq
MIRT1110656	hsa-miR-152	CLIP-seq
MIRT1110657	hsa-miR-3134	CLIP-seq
MIRT1110658	hsa-miR-3163	CLIP-seq
MIRT1110659	hsa-miR-3185	CLIP-seq
MIRT1110660	hsa-miR-340	CLIP-seq
MIRT1110661	hsa-miR-4528	CLIP-seq
MIRT1110662	hsa-miR-4534	CLIP-seq
MIRT1110663	hsa-miR-519a	CLIP-seq
MIRT1110664	hsa-miR-519b-3p	CLIP-seq
MIRT1110665	hsa-miR-519c-3p	CLIP-seq
MIRT1110666	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004620	Function	Phospholipase activity	IBA
GO:0004620	Function	Phospholipase activity	IDA	12963729
GO:0004620	Function	Phospholipase activity	IEA
GO:0004620	Function	Phospholipase activity	TAS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12963729
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IDA	12963729
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0008201	Function	Heparin binding	IDA	12963729
GO:0008201	Function	Heparin binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IBA
GO:0016042	Process	Lipid catabolic process	IDA	12963729
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA

Other IDs

• MIM: 609252
• HGNC: 18821
• e!Ensembl: ENSG00000188992

Protein

• UniProt ID: Q6XZB0
• Protein name: Lipase member I (LIPI) (EC 3.1.1.-) (Cancer/testis antigen 17) (CT17) (LPD lipase) (Membrane-associated phosphatidic acid-selective phospholipase A1-beta) (mPA-PLA1 beta)
• Protein function: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and ph
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00151	Lipase	7 → 334	Lipase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. Expressed exclusively at the connecting piece of the sperm. {ECO:0000269|PubMed:12719377, ECO:0000269|PubMed:12963729}.
• Sequence:

  MRVYIFLCLMCWVRSDNKRPCLEFSQLSVKDSFRDLFIPRIETILMMYTRNNLNCAEPLF
  EQNNSLNVNFNTQKKTVWLIHGYRPVGSIPLWLQNFVRILLNEEDMNVIVVDWSRGATTF
  IYNRAVKNTRKVAVSLSVHIKNLLKHGASLDNFHFIGVSLGAHISGFVGKIFHGQLGRIT
  GLDPAGPRFSRKPPYSRLDYTDAKFVDVIHSDSNGLGIQEPLGHIDFYPNGGNKQPGCPK
  SIFSGIQFIKCNHQRAVHLFMASLETNCNFISFPCRSYKDYKTSLCVDCDCFKEKSCPRL
  GYQAKLFKGVLKERMEGRPLRTTVFLDTSGTYPFCTYYFVLSIIVPDKTMMDGSFSFKLL
  NQLGMIEEPRLYEKNKPFYKLQEVKILAQFYNDFVNISSIGLTYFQSSNLQCSTCTYKIQ
  SLMLKSLTYPERPPLCRYNIVLKDREEVFLNPNTCTPKNT

• Sequence length: 460

Pathways

Reactome:

Synthesis of PA

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
HYPERTRIGLYCERIDEMIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia 1	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIPI-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	UNIPROT_DG	12719377		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17023585	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11920606		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hyperlipoproteinemia type 4	Hyperlipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	19793082	Associate	★☆☆☆☆ Found in Text Mining only