ENSG00000175535


Homo sapiens

Features
Gene ID: ENSG00000175535
  
Biological name :PNLIP
  
Synonyms : P16233 / pancreatic lipase / PNLIP
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q25.3
Gene start: 116545931
Gene end: 116567855
  
Corresponding Affymetrix probe sets: 205912_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358223
NCBI entrez gene - 5406     See in Manteia.
OMIM - 246600
RefSeq - NM_000936
RefSeq Peptide - NP_000927
swissprot - P16233
Ensembl - ENSG00000175535
  
Related genetic diseases (OMIM): 614338 - ?Pancreatic lipase deficiency, 614338
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PNLIPENSGALG00000009231Gallus gallus
 PnlipENSMUSG00000046008Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P54315 / PNLIPRP1 / pancreatic lipase related protein 1ENSG0000018702168
PNLIPRP2 / pancreatic lipase related protein 2 (gene/pseudogene)ENSG0000026620064
Q17RR3 / PNLIPRP3 / pancreatic lipase related protein 3ENSG0000020383746
LIPH / Q8WWY8 / lipase HENSG0000016389830
LIPC / P11150 / lipase C, hepatic typeENSG0000016603530
LIPG / Q9Y5X9 / lipase G, endothelial typeENSG0000010167029
LPL / P06858 / lipoprotein lipaseENSG0000017544528
LIPI / Q6XZB0 / lipase IENSG0000018899228
PLA1A / Q53H76 / phospholipase A1 member AENSG0000014483727


Protein motifs (from Interpro)
Interpro ID Name
 IPR000734  Triacylglycerol lipase family
 IPR001024  PLAT/LH2 domain
 IPR002331  Pancreatic lipase
 IPR013818  Lipase/vitellogenin
 IPR016272  Lipase, LIPH-type
 IPR029058  Alpha/Beta hydrolase fold
 IPR033906  Lipase, N-terminal
 IPR036392  PLAT/LH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0006629 lipid metabolic process IMP
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0030299 intestinal cholesterol absorption IEA
 biological_processGO:0044241 lipid digestion TAS
 biological_processGO:0061365 positive regulation of triglyceride lipase activity IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 molecular_functionGO:0004806 triglyceride lipase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016298 lipase activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0052689 carboxylic ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Digestion of dietary lipid
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002570 Steatorrhea 
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 HP:0045014 Hypolipidemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000137392 CLPS / P04118 / colipase  / complex






 

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