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PNLIP Gene

protein-coding   GIFtS: 65
GCID: GC10P118305

Pancreatic Lipase

  See PNLIP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pancreatic Lipase1 2 3     PNLIPD2 5
PL2 3     Pancreatic Triacylglycerol Lipase2
PTL2 3     Triacylglycerol Acylhydrolase2
EC 3.1.1.33 8     

External Ids:    HGNC: 91551   Entrez Gene: 54062   Ensembl: ENSG000001755357   OMIM: 2466005   UniProtKB: P162333   

Export aliases for PNLIP gene to outside databases

Previous GC identifers: GC10P117224 GC10P117549 GC10P118436 GC10P117970 GC10P118295 GC10P111932


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PNLIP Gene:
This gene is a member of the lipase gene family. It encodes a carboxyl esterase that hydrolyzes insoluble,
emulsified triglycerides, and is essential for the efficient digestion of dietary fats. This gene is expressed
specifically in the pancreas. (provided by RefSeq, Jul 2008)

GeneCards Summary for PNLIP Gene:
PNLIP (pancreatic lipase) is a protein-coding gene. Diseases associated with PNLIP include pancreatic lipase deficiency, and cholesterol ester storage disease. GO annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is LIPH.

Gene Wiki entry for PNLIP (Pancreatic lipase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNLIP gene promoter:
         Bach2   LUN-1   XBP-1   POU2F1   GATA-6   POU2F1a   FOXJ2 (long isoform)   ZIC2/Zic2   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNLIP promoter sequence
   Search Chromatin IP Primers for PNLIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNLIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.1   Ensembl cytogenetic band:  10q25.3   HGNC cytogenetic band: 10q25.3

PNLIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNLIP gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P118305:  view genomic region     (about GC identifiers)

Start:
118,305,428 bp from pter      End:
118,327,367 bp from pter
Size:
21,940 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LIPP_HUMAN, P16233 (See protein sequence)
Recommended Name: Pancreatic triacylglycerol lipase precursor  
Size: 465 amino acids; 51157 Da
3 PDB 3D structures from and Proteopedia for PNLIP:
1LPA (3D)        1LPB (3D)        1N8S (3D)    
Secondary accessions: Q5VSQ2

Explore the universe of human proteins at neXtProt for PNLIP: NX_P16233

Explore proteomics data for PNLIP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn183
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PNLIP (P16233) (see all 15)
     DFFPNGG  RLDPSDA  GRITGLD  YSPSNVH 


    See PNLIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000927.1  
    ENSEMBL proteins: 
     ENSP00000358223  
    Reactome Protein details: P16233

    PNLIP Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR001024 PLAT/LH2_dom
     IPR008976 Lipase_LipOase
     IPR000734 Lipase
     IPR016272 Lipoprotein_lipase_LIPH
     IPR002331 Lipase_panc

    Graphical View of Domain Structure for InterPro Entry P16233

    ProtoNet protein and cluster: P16233

    4 Blocks protein domains:
    IPB000734 Lipase
    IPB001024 Lipoxygenase
    IPB002331 Pancreatic lipase signature
    IPB008262 Lipase


    UniProtKB/Swiss-Prot: LIPP_HUMAN, P16233
    Similarity: Belongs to the AB hydrolase superfamily. Lipase family
    Similarity: Contains 1 PLAT domain


    Find genes that share domains with PNLIP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LIPP_HUMAN, P16233
    Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate
    Induction: By colipase/CLPS in the presence of bile salts

         Genatlas biochemistry entry for PNLIP:
    lipase,pancreatic (56kDa)

         Enzyme Number (IUBMB): EC 3.1.1.31 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004806triglyceride lipase activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with PNLIP           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pnlip):
     adipose tissue  digestive/alimentary  growth/size/body  homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with PNLIP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pnliptm1Dyh for PNLIP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNLIP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PNLIP

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PNLIP

    miRNA
    Products:
        
    miRTarBase miRNAs that target PNLIP:
    hsa-mir-335-5p (MIRT019061)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PNLIP

    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for PNLIP
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNLIP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LIPP_HUMAN, P16233: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    chloroplast1
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--

    Find genes that share ontologies with PNLIP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PNLIP About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Fat digestion and absorption
    Digestion of dietary lipid0.00
    Fat digestion and absorption
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    4Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.59
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with PNLIP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PNLIP
        triacylglycerol degradation
    retinol biosynthesis


    2 Reactome Pathways for PNLIP
        Retinoid metabolism and transport
    Digestion of dietary lipid


    5 Kegg Pathways  (Kegg details for PNLIP):
        Glycerolipid metabolism
    Metabolic pathways
    Pancreatic secretion
    Fat digestion and absorption
    Vitamin digestion and absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNLIP
    Interactions:

        Search GeneGlobe Interaction Network for PNLIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PNLIP (P162332, 3 ENSP000003582234) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583, ENSP000002643354I2D: score=3 STRING: ENSP00000264335
    CLPSP041183, ENSP000002599384I2D: score=2 STRING: ENSP00000259938
    APCP250543I2D: score=2 
    GRB2P629933I2D: score=2 
    AGKENSP000003475814STRING: ENSP00000347581
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007603phototransduction, visible light TAS--
    GO:0016042lipid catabolic process IEA--
    GO:0030299intestinal cholesterol absorption IEA--
    GO:0044241lipid digestion TAS--

    Find genes that share ontologies with PNLIP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for PNLIP available from Tocris Bioscience    About this table
    CompoundAction CAS #
    JZL 184Monoacylglycerol lipase (MAGL) inhibitor[1101854-58-3]
    Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity [96829-58-2]
    Pristimerin Potent, reversible MAGL inhibitor [1258-84-0]
    GSK 264220AEndothelial lipase and lipoprotein lipase inhibitor[685506-42-7]

    Selected HMDB Compounds for PNLIP (see all 1142)    About this table
    CompoundSynonyms CAS #PubMed Ids
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)--12486725
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)--12486725
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)--12486725
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)--12486725
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)--12486725
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)--12486725
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:1(9Z))[iso3]TG(15:0/18:1n9/18:1n9) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]Tracylglycerol(15:0/18:1/18:2) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]Tracylglycerol(15:0/18:1/18:3) (see all 16)--12486725

    4 DrugBank Compounds for PNLIP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Orlistat(-)-Tetrahydrolipstatin (see all 4)96829-58-2targetinhibitor10338682 11054601 10095983 18200802 16956313 11728255 15382615 10730683 10932681 11752352 12007529 16259579 9711448
    (Hydroxyethyloxy)Tri(Ethyloxy)Octane-- --target--10592235
    METHOXYUNDECYLPHOSPHINIC ACID-- --target--10592235
    Glycerol PhenylbutyrateGlyceryl Tri-4-Phenylbutyrate (see all 3)611168-24-2enzymesubstrate--

    Selected Novoseek inferred chemical compound relationships for PNLIP gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    orlistat 88.9 47 12381337 (4), 17003701 (2), 8387973 (1), 18200802 (1) (see all 37)
    ar-25 83.7 7 15539342 (5), 11924761 (1)
    5-(dodecyldithio)-2-nitrobenzoic acid 83.7 3 1551387 (2), 8268155 (1)
    vinyl propionate 83.7 1 10984115 (1)
    lipstatin 82.3 1 12954074 (1)
    monoacylglycerol 76.5 9 11750885 (1), 15450204 (1), 15801546 (1), 8415405 (1) (see all 9)
    triacylglycerol 75.3 30 14583598 (2), 7601150 (2), 14583599 (2), 12451678 (1) (see all 23)
    platycodin d 74.4 5 15473669 (2), 15554263 (2), 15789748 (1)
    vinylbutyrate 73.8 1 10984115 (1)
    diglyceride 70.1 3 11835532 (2), 7971705 (1)



    Find genes that share compounds with PNLIP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNLIP gene: 
    NM_000936.2  

    Unigene Cluster for PNLIP:

    Pancreatic lipase
    Hs.501135  [show with all ESTs]
    Unigene Representative Sequence: NM_000936
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369221(uc001lcm.3) ENST00000470562
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PNLIP
      QuantiFast Probe-based Assays in human, mouse, rat PNLIP

    Additional mRNA sequence: 

    AK313941.1 BC007025.2 BC014309.2 J05125.1 M93285.1 

    16 DOTS entries:

    DT.100033695  DT.102822495  DT.95276543  DT.121255138  DT.100798692  DT.100798691  DT.100798699  DT.97855336 
    DT.91757361  DT.121255120  DT.121255140  DT.121255160  DT.121255165  DT.121624541  DT.40241762  DT.92030301 

    Selected AceView cDNA sequences (see all 725):

    AA366476 BQ786930 BQ786837 BG654596 AA366976 BU790106 CA941980 CA942061 
    BQ786993 BX498902 BI792331 BQ777733 CA776388 BQ269828 BQ778370 BQ417011 
    BU950265 BM264549 BQ632015 BE045795 BQ286095 CA867599 BQ286607 BI439577 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PNLIP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTGGCCA
    PNLIP Expression
    About this image


    PNLIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
    PNLIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNLIP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.501135
        Custom PCR Arrays for PNLIP
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNLIP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PNLIP gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnlip1 , 5 pancreatic lipase1, 5 79.66(n)1
    78.85(a)1
      19 (54.46 cM)5
    690601  NM_026925.31  NP_081201.21 
     586703655 
    chicken
    (Gallus gallus)
    Aves PNLIP6
    Gallus gallus pancreatic lipase (PNLIP), mRNA.
    61(a)
    1 → many
    6(28388274-28399269)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL343206.1(2017129-2041833)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB206171.12   -- 75.37(n)    CB206171.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62953
    CG59661
    triacylglycerol lipase3
    CG59661
    37(a)
    (best of 10)3
    48.69(n)1
    38.78(a)1
      97D133
    315321  NM_132058.21  NP_572286.11 


    ENSEMBL Gene Tree for PNLIP (if available)
    TreeFam Gene Tree for PNLIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNLIP gene
    LIPH2  LIPC2  LIPG2  PNLIPRP32  PNLIPRP22  LPL2  LIPI2  PLA1A2  
    PNLIPRP12  
    7 SIMAP similar genes for PNLIP using alignment to 1 protein entry:     LIPP_HUMAN:
    PNLIPRP2    PNLIPRP1    PNLIPRP3    LIPH    LIPC    LPL
    LIPG

    Find genes that share paralogs with PNLIP           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PNLIP
    PGOHUM00000238931


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PNLIP (see all 540)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007459031,2
    C--118304068(-) ATGTGA/GANNNN 1 -- us2k10--------
    rs1997493311,2
    C--118310817(-) AGGCTC/TTNNNN 1 -- int10--------
    rs342772551,2
    C--118310818(+) AAAAA-/A/AAAA
            
    GCCTG
    1 -- int11NA 2
    rs2004730251,2
    C--118318099(+) ACACA-/AC/CA 
            
    TATTC
    1 -- int10--------
    rs351298221,2
    C--118326654(+) TCTTT-/CTTT  
            
    TCTTC
    1 -- int11Minor allele frequency- CTTT:0.00NA 2
    rs1852203101,2
    --118659240(+) GATCGC/TGCCAC 1 -- us2k10--------
    rs1179992601,2
    F--118659426(+) GATTAT/CGTATA 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1888020381,2
    --118659730(+) GTAAAC/TAACTT 1 -- us2k10--------
    rs1813585151,2
    --118660006(+) TGTTTC/TGAAGG 1 -- us2k10--------
    rs789609611,2
    C,F--118660060(+) ACAAGG/ACCCTG 1 -- us2k11Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for PNLIP (118305428 - 118327367 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PNLIP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832001CNV Loss17160897
    nsv7211OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PNLIP
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 246600   
    OMIM disorders: 614338  
    7 diseases for PNLIP:    
    About MalaCards
    pancreatic lipase deficiency    cholesterol ester storage disease    pancreatic steatorrhea    toxic oil syndrome
    exocrine pancreatic insufficiency    steatorrhea    pancreatitis

    6 diseases from the University of Copenhagen DISEASES database for PNLIP:
    Pancreatitis     Steatorrhea     Exocrine pancreatic insufficiency     Pancreatic steatorrhea
    Cholesterol ester storage disease     Cystic fibrosis

    Find genes that share disorders with PNLIP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PNLIP gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatic insufficiency 70.8 3 10464915 (1), 15795591 (1), 9085465 (1)
    exocrine pancreatic insufficiency 68.7 3 11458612 (1), 8194711 (1), 18817766 (1)
    steatorrhea 59.8 4 15883471 (2), 7827373 (1), 11276376 (1)
    pancreas exocrine 59.8 3 9720253 (1), 16223944 (1), 9726421 (1)
    pancreatic diseases 57.8 5 8658037 (1), 8013095 (1), 11797385 (1), 1895517 (1) (see all 5)
    acute pancreatitis 56 5 8086522 (1), 1707263 (1), 8888707 (1), 8472353 (1) (see all 5)
    obesity 52.8 10 11768247 (1), 20065556 (1), 11728255 (1), 17024036 (1) (see all 9)
    chronic pancreatitis 49.8 4 15883471 (2), 11458612 (1), 10720121 (1)
    pancreatitis 49 9 11835532 (1), 17069643 (1), 18983441 (1), 19293788 (1) (see all 8)
    malabsorption 44.6 2 11276376 (1), 15528257 (1)

    Genetic Association Database (GAD): PNLIP
    Human Genome Epidemiology (HuGE) Navigator: PNLIP (3 documents)

    Export disorders for PNLIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PNLIP gene, integrated from 10 sources (see all 317):
    (articles sorted by number of sources associating them with PNLIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits. (PubMed id 11393534)1, 4, 9 Hegele R.A....Cao H. (J. Hum. Genet. 2001)
    2. Structure-function relationships in naturally occurring mutants of pancreatic lipase. (PubMed id 8029213)1, 2, 9 Carriere F.... Thim L. (Protein Eng. 1994)
    3. Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26. (PubMed id 1783385)1, 3, 9 Davis R.C....Lusis A.J. (Genomics 1991)
    4. Structure of human pancreatic lipase. (PubMed id 2106079)1, 2, 9 Winkler F.K.... Hunziker W. (Nature 1990)
    5. Structure of the pancreatic lipase-procolipase complex. (PubMed id 1522902)1, 2, 9 van Tilbeurgh H.... Cambillau C. (Nature 1992)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Hydrolysis of retinyl esters by pancreatic triglyceride lipase. (PubMed id 10769148)1, 2 van Bennekum A.M.... Harrison E.H. (Biochemistry 2000)
    9. Interfacial activation of the lipase-procolipase complex by mixed micelles revealed by X-ray crystallography. (PubMed id 8479519)1, 2 van Tilbeurgh H....Cambillau C. (Nature 1993)
    10. The human pancreatic lipase-encoding gene: structure and conservation of an Alu sequence in the lipase gene family. (PubMed id 8406023)1, 2 Sims H.F.... Lowe M.E. (Gene 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5406 HGNC: 9155 AceView: PNLIP Ensembl:ENSG00000175535 euGenes: HUgn5406
    ECgene: PNLIP Kegg: 5406 H-InvDB: PNLIP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PNLIP Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Pancreatic_lipase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNLIP gene:
    Search GeneIP for patents involving PNLIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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