ENSG00000166819


Homo sapiens

Features
Gene ID: ENSG00000166819
  
Biological name :PLIN1
  
Synonyms : O60240 / perilipin 1 / PLIN1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q26.1
Gene start: 89664365
Gene end: 89679427
  
Corresponding Affymetrix probe sets: 205913_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300055
Ensembl peptide - ENSP00000402167
Ensembl peptide - ENSP00000453426
NCBI entrez gene - 5346     See in Manteia.
OMIM - 170290
RefSeq - XM_005254934
RefSeq - NM_001145311
RefSeq - NM_002666
RefSeq Peptide - NP_001138783
RefSeq Peptide - NP_002657
swissprot - O60240
swissprot - H0YM16
Ensembl - ENSG00000166819
  
Related genetic diseases (OMIM): 613877 - Lipodystrophy, familial partial, type 4, 613877
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
 plin1ENSDARG00000054048Danio rerio
 PLIN1ENSGALG00000023395Gallus gallus
 Plin1ENSMUSG00000030546Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLIN2 / Q99541 / perilipin 2ENSG0000014787221
PLIN5 / Q00G26 / perilipin 5ENSG0000021445620
PLIN3 / O60664 / perilipin 3ENSG0000010535520
PLIN4 / Q96Q06 / perilipin 4ENSG0000016767614


Protein motifs (from Interpro)
Interpro ID Name
 IPR004279  Perilipin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process NAS
 biological_processGO:0016042 lipid catabolic process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005811 lipid droplet TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008289 lipid binding NAS


Pathways (from Reactome)
Pathway description
Triglyceride catabolism
Transcriptional regulation of white adipocyte differentiation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000147 polycystic ovaries 
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 HP:0000789 Infertility 
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 HP:0000819 Diabetes mellitus 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000842 Hyperinsulinemia 
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 HP:0000876 Oligomenorrhea 
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 HP:0000877 Insulin-resistant diabetes mellitus at puberty 
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 HP:0000956 Acanthosis nigricans 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001397 Hepatic steatosis 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0003635 Loss of subcutaneous adipose tissue in limbs 
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 HP:0003712 Muscle hypertrophy "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators]
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 HP:0003758 Reduced subcutaneous adipose tissue "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators]
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 HP:0008981 Muscular hypertrophy, esp calf muscles "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators]
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 HP:0009017 Loss of subcutaneous adipose tissue from gluteal region 
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011198 ABHD5 / Q8WTS1 / abhydrolase domain containing 5  / complex
 ENSG00000172531 P62136 / PPP1CA / protein phosphatase 1 catalytic subunit alpha  / reaction
 ENSG00000213639 P62140 / PPP1CB / protein phosphatase 1 catalytic subunit beta  / reaction
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction
 ENSG00000186298 P36873 / PPP1CC / protein phosphatase 1 catalytic subunit gamma  / reaction
 ENSG00000142875 P22694 / PRKACB / protein kinase cAMP-activated catalytic subunit beta  / reaction
 ENSG00000165059 P22612 / PRKACG / protein kinase cAMP-activated catalytic subunit gamma  / reaction






 

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