PNLIPRP2 pancreatic lipase related protein 2 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PNLIPRP2provided by HGNC
Official Full Name: pancreatic lipase related protein 2 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:9157
See related: Ensembl:ENSG00000266200 MIM:604423; AllianceGenome:HGNC:9157
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PLRP2
Summary: This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Restricted expression toward pancreas (RPKM 1148.7) See more
Orthologs: all
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Genomic context

Location:: 10q25.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (116620953..116645143)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (117515050..117539456)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (118380465..118404654)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pancreatic lipase and its related proteins: where are we now?
Title: Pancreatic lipase and its related proteins: where are we now?
We analyzed mRNA expression in human pancreatic cDNA samples and found the variant allele markedly reduced. We conclude that the p.W358X truncation variant of PNLIPRP2 is expressed poorly and has no significant effect on the risk of chronic pancreatitis
Title: The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis.
findings show that endosomal lipases participate in lipid antigen presentation by processing lipid antigens and have a role in T cell immunity against mycobacteria
Title: Lysosomal Lipases PLRP2 and LPLA2 Process Mycobacterial Multi-acylated Lipids and Generate T Cell Stimulatory Antigens.
The beta5-Loop and Lid Domain Contribute to the Substrate Specificity of Pancreatic Lipase-related Protein 2
Title: The β5-Loop and Lid Domain Contribute to the Substrate Specificity of Pancreatic Lipase-related Protein 2 (PNLIPRP2).
Pancreatic lipase-related protein 2 digests fats in human milk and formula in concert with gastric lipase and carboxyl ester lipase.
Title: Pancreatic lipase-related protein 2 digests fats in human milk and formula in concert with gastric lipase and carboxyl ester lipase.
BSSL and PLRP2 hydrolyzed triglycerides (TG) to free FA and glycerol.
Title: BSSL and PLRP2: key enzymes for lipid digestion in the newborn examined using the Caco-2 cell line.
Pancreatic lipase-related protein-2 (PLRP2) can contribute to dietary fat digestion in human newborns
Title: Pancreatic lipase-related protein-2 (PLRP2) can contribute to dietary fat digestion in human newborns.
localization of PLRP2 in endosomes of monocytes
Title: Bis (monoacylglycero) phosphate interfacial properties and lipolysis by pancreatic lipase-related protein 2, an enzyme present in THP-1 human monocytes.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
The pancreatic lipase related protein 2 is required for lipid-dependent cytotoxicity mediated by cytotoxic T lymphocytes.
Title: Lipid-dependent cytotoxicity by the lipase PLRP2 and by PLRP2-positive cytotoxic T lymphocytes (CTLs).

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables galactolipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactolipase activity	IDA Inferred from Direct Assay more info	PubMed
enables lipoprotein lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables monoacylglycerol lipase activity	TAS Traceable Author Statement more info
enables phospholipase A1 activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables triacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triacylglycerol lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in galactolipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid digestion	TAS Traceable Author Statement more info
involved_in phosphatidylcholine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride catabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in zymogen granule membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pancreatic lipase-related protein 2

Names: cytotoxic T lymphocyte lipase; galactolipase; triacylglycerol lipase

NP_005387.3

EC 3.1.1.26

EC 3.1.1.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005396.5 → NP_005387.3 pancreatic lipase-related protein 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) differs at a polymorphic nucleotide compared to the reference genome sequence and represents the protein coding allele.

Source sequence(s)

BC005989, BP325072, BQ786898, BU078199

UniProtKB/Swiss-Prot

A0A075B781, A8K627, P54317, Q6IB55

UniProtKB/TrEMBL

A0AAG2UV77

Conserved Domains (2) summary

cd01759
Location:357 → 469

PLAT_PL; PLAT/LH2 domain of pancreatic triglyceride lipase. Lipases hydrolyze phospholipids and triglycerides to generate fatty acids for energy production or for storage and to release inositol phosphates that act as second messengers. The central role of ...

pfam00151
Location:18 → 354

Lipase

RNA

NR_103727.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) contains a polymorphic nt that creates an early termination codon compared to variant 1, coding. The resulting transcript is considered to be non-protein coding since it is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA367174, AK291492, BQ786898, M93284

Related

ENST00000579578.6