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Aliases for PNLIP Gene

Aliases for PNLIP Gene

  • Pancreatic Lipase 2 3 4 5
  • PTL 3 4
  • PL 3 4
  • Pancreatic Triacylglycerol Lipase 3
  • Triacylglycerol Acylhydrolase 3
  • EC 3.1.1.3 4
  • PNLIPD 3

External Ids for PNLIP Gene

Previous GeneCards Identifiers for PNLIP Gene

  • GC10P117224
  • GC10P117549
  • GC10P118436
  • GC10P117970
  • GC10P118295
  • GC10P111932
  • GC10P118305

Summaries for PNLIP Gene

Entrez Gene Summary for PNLIP Gene

  • 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 may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]

GeneCards Summary for PNLIP Gene

PNLIP (Pancreatic Lipase) is a Protein Coding gene. Diseases associated with PNLIP include Pancreatic Lipase Deficiency and Steatorrhea. Among its related pathways are Glycerolipid metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include carboxylic ester hydrolase activity and triglyceride lipase activity. An important paralog of this gene is PNLIPRP1.

Tocris Summary for PNLIP Gene

  • Lipases are esterase enzymes that catalyze the hydrolysis of ester bonds within hydrophobic lipids. The diverse class of lipase enzymes includes diacylglycerol lipase (DAGL) and lipoprotein lipase (LPL) and endothelial lipase (LIPG).

Gene Wiki entry for PNLIP Gene

Additional gene information for PNLIP Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNLIP Gene

Genomics for PNLIP Gene

GeneHancer (GH) Regulatory Elements for PNLIP Gene

Promoters and enhancers for PNLIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J116545 Promoter 0.6 EPDnew 650.7 -0.4 -370 0.1 MAFK PNLIP RNU6-1090P
GH10J116546 Promoter 0.5 EPDnew 650.7 0.0 -4 0.1 PNLIP RNU6-1090P
GH10J116614 Enhancer 0.4 FANTOM5 147.1 +68.4 68364 0.4 PKNOX1 ZNF548 PNLIP PNLIPRP2 PNLIPRP1
GH10J116589 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 10.8 +44.6 44603 2.3 SCRT1 FOXA2 NFIA RXRA NFIB FEZF1 ZNF843 FOXA1 SP1 GATA3 PNLIPRP1 PNLIPRP2 PNLIP RNU6-1090P
GH10J116417 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 10.5 -127.3 -127252 3 PNLIPRP3 PNLIP SLC18A2 SNRPGP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNLIP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNLIP gene promoter:
  • Bach2
  • POU2F1a
  • POU2F1
  • ZIC2
  • XBP-1
  • GATA-6
  • FOXJ2
  • FOXJ2 (long isoform)
  • LUN-1

Genomic Locations for PNLIP Gene

Genomic Locations for PNLIP Gene
chr10:116,545,916-116,567,855
(GRCh38/hg38)
Size:
21,940 bases
Orientation:
Plus strand
chr10:118,305,428-118,327,367
(GRCh37/hg19)
Size:
21,940 bases
Orientation:
Plus strand

Genomic View for PNLIP Gene

Genes around PNLIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNLIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNLIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNLIP Gene

Proteins for PNLIP Gene

  • Protein details for PNLIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16233-LIPP_HUMAN
    Recommended name:
    Pancreatic triacylglycerol lipase
    Protein Accession:
    P16233
    Secondary Accessions:
    • Q5VSQ2

    Protein attributes for PNLIP Gene

    Size:
    465 amino acids
    Molecular mass:
    51157 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PNLIP Gene

neXtProt entry for PNLIP Gene

Post-translational modifications for PNLIP Gene

  • Glycosylation at posLast=183183
  • Modification sites at PhosphoSitePlus

Other Protein References for PNLIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PNLIP Gene

Domains & Families for PNLIP Gene

Gene Families for PNLIP Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PNLIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16233

UniProtKB/Swiss-Prot:

LIPP_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with PNLIP: view

Function for PNLIP Gene

Molecular function for PNLIP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot Induction:
By colipase/CLPS in the presence of bile salts.
GENATLAS Biochemistry:
lipase,pancreatic (56kDa)

Enzyme Numbers (IUBMB) for PNLIP Gene

Phenotypes From GWAS Catalog for PNLIP Gene

Gene Ontology (GO) - Molecular Function for PNLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity ISS,TAS --
GO:0005515 protein binding IPI 1522902
GO:0016298 lipase activity IDA 25862608
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PNLIP: view
genes like me logo Genes that share phenotypes with PNLIP: view

Human Phenotype Ontology for PNLIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNLIP Gene

MGI Knock Outs for PNLIP:

Animal Model Products

  • Taconic Biosciences Mouse Models for PNLIP

CRISPR Products

miRNA for PNLIP Gene

miRTarBase miRNAs that target PNLIP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNLIP

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PNLIP Gene

Localization for PNLIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNLIP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNLIP gene
Compartment Confidence
extracellular 5
plasma membrane 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PNLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25862608
genes like me logo Genes that share ontologies with PNLIP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PNLIP Gene

Pathways & Interactions for PNLIP Gene

genes like me logo Genes that share pathways with PNLIP: view

Gene Ontology (GO) - Biological Process for PNLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IMP 24262094
GO:0016042 lipid catabolic process IEA --
GO:0030299 intestinal cholesterol absorption IEA --
GO:0044241 lipid digestion TAS --
genes like me logo Genes that share ontologies with PNLIP: view

No data available for SIGNOR curated interactions for PNLIP Gene

Drugs & Compounds for PNLIP Gene

(36) Drugs for PNLIP Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orlistat Approved, Investigational Pharma inhibitor, Target Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 54
Stearic acid Approved, Experimental Pharma 0
Glycerol Phenylbutyrate Approved Pharma Enzyme, substrate 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Water Approved Pharma 0

(43) Additional Compounds for PNLIP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(3) Tocris Compounds for PNLIP Gene

Compound Action Cas Number
GSK 264220A Endothelial lipase and lipoprotein lipase inhibitor 685506-42-7
Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 96829-58-2
XEN 445 Selective endothelial lipase inhibitor; orally bioavailable 1515856-92-4
genes like me logo Genes that share compounds with PNLIP: view

Transcripts for PNLIP Gene

mRNA/cDNA for PNLIP Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(725) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PNLIP Gene

Pancreatic lipase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNLIP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNLIP Gene

No ASD Table

Relevant External Links for PNLIP Gene

GeneLoc Exon Structure for
PNLIP
ECgene alternative splicing isoforms for
PNLIP

Expression for PNLIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNLIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNLIP Gene

This gene is overexpressed in Pancreas (x52.9).

Protein differential expression in normal tissues from HIPED for PNLIP Gene

This gene is overexpressed in Pancreatic juice (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PNLIP Gene



Protein tissue co-expression partners for PNLIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PNLIP Gene:

PNLIP

SOURCE GeneReport for Unigene cluster for PNLIP Gene:

Hs.501135

Evidence on tissue expression from TISSUES for PNLIP Gene

  • Pancreas(5)
  • Lung(4.1)
  • Liver(4)
  • Intestine(2.6)
  • Stomach(2.6)
  • Muscle(2.3)
  • Blood(2.2)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNLIP Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
Regions:
Abdomen:
  • intestine
  • large intestine
  • pancreas
  • small intestine
genes like me logo Genes that share expression patterns with PNLIP: view

No data available for mRNA Expression by UniProt/SwissProt for PNLIP Gene

Orthologs for PNLIP Gene

This gene was present in the common ancestor of animals.

Orthologs for PNLIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNLIP 34 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PNLIP 34 33
  • 87.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNLIP 34 33
  • 85.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnlip 33
  • 79.88 (n)
mouse
(Mus musculus)
Mammalia Pnlip 16 34 33
  • 79.66 (n)
oppossum
(Monodelphis domestica)
Mammalia PNLIP 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNLIP 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNLIP 34
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5966 34 35 33
  • 48.69 (n)
OneToMany
CG6295 35
  • 37 (a)
CG6271 35
  • 34 (a)
CG6472 35
  • 34 (a)
CG7367 35
  • 33 (a)
CG17191 35
  • 33 (a)
CG6277 35
  • 32 (a)
CG17192 35
  • 31 (a)
CG6283 35
  • 31 (a)
CG6847 35
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000211 33
  • 45.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4080 34
  • 43 (a)
OneToMany
Species where no ortholog for PNLIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PNLIP Gene

ENSEMBL:
Gene Tree for PNLIP (if available)
TreeFam:
Gene Tree for PNLIP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNLIP: view image

Paralogs for PNLIP Gene

Paralogs for PNLIP Gene

(7) SIMAP similar genes for PNLIP Gene using alignment to 1 proteins:

  • LIPP_HUMAN

Pseudogenes.org Pseudogenes for PNLIP Gene

genes like me logo Genes that share paralogs with PNLIP: view

Variants for PNLIP Gene

Sequence variations from dbSNP and Humsavar for PNLIP Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs746000327 pathogenic, Pancreatic lipase deficiency, Pancreatic lipase deficiency (PNLIPD) [MIM:614338] 116,555,268(+) C/T coding_sequence_variant, missense_variant
rs1000103563 -- 116,549,259(+) C/T intron_variant
rs1000494610 -- 116,550,884(+) G/A/C intron_variant
rs1000555658 -- 116,545,743(+) C/T upstream_transcript_variant
rs1000602256 -- 116,545,403(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PNLIP Gene

Variant ID Type Subtype PubMed ID
nsv7211 OTHER inversion 18451855
nsv832001 CNV loss 17160897

Variation tolerance for PNLIP Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNLIP Gene

Human Gene Mutation Database (HGMD)
PNLIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNLIP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNLIP Gene

Disorders for PNLIP Gene

MalaCards: The human disease database

(22) MalaCards diseases for PNLIP Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pancreatic lipase deficiency
  • pnlipd
steatorrhea
  • fatty stool
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
multicentric papillary thyroid carcinoma
  • multicentric thyroid gland papillary carcinoma
exocrine pancreatic insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search PNLIP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIPP_HUMAN
  • Pancreatic lipase deficiency (PNLIPD) [MIM:614338]: An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity. {ECO:0000269 PubMed:24262094, ECO:0000269 PubMed:25862608}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PNLIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PNLIP: view

No data available for Genatlas for PNLIP Gene

Publications for PNLIP Gene

  1. Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits. (PMID: 11393534) Hegele RA … Cao H (Journal of human genetics 2001) 3 22 44 58
  2. Structure-function relationships in naturally occurring mutants of pancreatic lipase. (PMID: 8029213) Carrière F … Thim L (Protein engineering 1994) 3 4 22 58
  3. Structure of the pancreatic lipase-procolipase complex. (PMID: 1522902) van Tilbeurgh H … Cambillau C (Nature 1992) 3 4 22 58
  4. Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26. (PMID: 1783385) Davis RC … Lusis AJ (Genomics 1991) 2 3 22 58
  5. Structure of human pancreatic lipase. (PMID: 2106079) Winkler FK … Hunziker W (Nature 1990) 3 4 22 58

Products for PNLIP Gene

Sources for PNLIP Gene

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