PNLIP (pancreatic lipase)

Gene

• Entrez ID: 5406
• Gene name: Pancreatic lipase
• Gene symbol: PNLIP
• Synonyms (NCBI Gene): PL, PNLIPD, PTL
• Chromosome: 10
• Chromosome location: 10q25.3
• Summary: This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs746000327	C>T	Pathogenic	Coding sequence variant, missense variant
rs765879360	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019061	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0004465	Function	Lipoprotein lipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	ISS
GO:0004806	Function	Triacylglycerol lipase activity	TAS	1783385
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	25862608
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IMP	24262094
GO:0006633	Process	Fatty acid biosynthetic process	IBA
GO:0008970	Function	Phospholipase A1 activity	IBA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IDA	25862608
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0030299	Process	Intestinal cholesterol absorption	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	IBA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0047376	Function	All-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity	IEA
GO:0050253	Function	Retinyl-palmitate esterase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0061365	Process	Positive regulation of triglyceride lipase activity	IDA	9631512

Other IDs

• MIM: 246600
• HGNC: 9155
• e!Ensembl: ENSG00000175535

Protein

• UniProt ID: P16233
• Protein name: Pancreatic triacylglycerol lipase (PL) (PTL) (Pancreatic lipase) (EC 3.1.1.3)
• Protein function: Plays an important role in fat metabolism. It preferentially splits the esters of long-chain fatty acids at positions 1 and 3, producing mainly 2-monoacylglycerol and free fatty acids, and shows considerably higher activity against insoluble emu
• PDB: 1GPL, 1LPA, 1LPB, 1N8S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00151	Lipase	17 → 352	Lipase	Domain
  PF01477	PLAT	357 → 463	PLAT/LH2 domain	Domain

• Sequence:

  MLPLWTLSLLLGAVAGKEVCYERLGCFSDDSPWSGITERPLHILPWSPKDVNTRFLLYTN
  ENPNNFQEVAADSSSISGSNFKTNRKTRFIIHGFIDKGEENWLANVCKNLFKVESVNCIC
  VDWKGGSRTGYTQASQNIRIVGAEVAYFVEFLQSAFGYSPSNVHVIGHSLGAHAAGEAGR
  RTNGTIGRITGLDPAEPCFQGTPELVRLDPSDAKFVDVIHTDGAPIVPNLGFGMSQVVGH
  LDFFPNGGVEMPGCKKNILSQIVDIDGIWEGTRDFAACNHLRSYKYYTDSIVNPDGFAGF
  PCASYNVFTANKCFPCPSGGCPQMGHYADRYPGKTNDVGQKFYLDTGDASNFARWRYKVS
  VTLSGKKVTGHILVSLFGNKGNSKQYEIFKGTLKPDSTHSNEFDSDVDVGDLQMVKFIWY
  NNVINPTLPRVGASKIIVETNVGKQFNFCSPETVREEVLLTLTPC

• Sequence length: 465

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways
Pancreatic secretion
Fat digestion and absorption
Vitamin digestion and absorption

Reactome:

Digestion of dietary lipid
Retinoid metabolism and transport

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pancreatic triacylglycerol lipase deficiency	Pathogenic	rs746000327, rs765879360	RCV000490560 RCV000625648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PANCREATIC LIPASE DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PNLIP-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Pancreatic Ductal	Associate	23918603	★☆☆☆☆ Found in Text Mining only
Gastritis	Stimulate	37962678	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Associate	1907278	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Inhibit	37630727	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Inhibit	39519261	★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Associate	40675955	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23918603, 28198679	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	23918603, 28198679, 37926600	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Associate	27243230	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Associate	30789418, 38485544	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	39519261	★☆☆☆☆ Found in Text Mining only