The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the ... See more...

Aliases for PLIN1 Gene

Aliases for PLIN1 Gene

  • Perilipin 1 2 3 5
  • Lipid Droplet-Associated Protein 3 4
  • Perilipin-1 3 4
  • PERI 3 4
  • PLIN 3 4
  • Perilipin 2
  • FPLD4 3
  • PLIN1 5

External Ids for PLIN1 Gene

Previous HGNC Symbols for PLIN1 Gene

  • PLIN

Previous GeneCards Identifiers for PLIN1 Gene

  • GC15M088009
  • GC15M090208
  • GC15M066320

Summaries for PLIN1 Gene

Entrez Gene Summary for PLIN1 Gene

  • The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]

GeneCards Summary for PLIN1 Gene

PLIN1 (Perilipin 1) is a Protein Coding gene. Diseases associated with PLIN1 include Lipodystrophy, Familial Partial, Type 4 and Familial Partial Lipodystrophy. Among its related pathways are Apelin signaling pathway and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is PLIN2.

UniProtKB/Swiss-Prot Summary for PLIN1 Gene

  • Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.

Gene Wiki entry for PLIN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLIN1 Gene

Genomics for PLIN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLIN1 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
GH15J089679 Enhancer 1.2 Ensembl ENCODE dbSUPER 250.7 -1.1 -1114 1.9 CEBPA ATF3 CHD4 YY1 MXD4 CEBPB KLF11 KMT2B THAP11 FOXA2 PLIN1 lnc-PEX11A-2 PEX11A HSALNG0108061 WDR93 lnc-PEX11A-1
GH15J089680 Promoter/Enhancer 0.8 EPDnew dbSUPER 250.7 +0.0 40 0.1 RXRA HNF4A RFX1 SP1 PLIN1 lnc-PEX11A-2 HSALNG0108059 lnc-PEX11A-1 PEX11A KIF7
GH15J089846 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 -170.7 -170660 6.5 JUND ZNF623 SMAD4 IRF4 ZNF316 TEAD3 NFE2 ZNF146 KDM1A BHLHE40 HSALNG0108079 MIR5094 AP3S2 MESP1 MESP2 ANPEP PLIN1 WDR93 ZNF710 CIB1
GH15J089875 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.2 -197.7 -197673 5 ZNF654 MYC ZNF600 ZNF592 CTCF REST TRIM22 BHLHE40 MNT MAX ENSG00000259677 LOC100631255 lnc-MESP2-3 AP3S2 ZNF710 MESP1 PLIN1 SEMA4B ANPEP MIR5009
GH15J089855 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 -181.8 -181791 10.6 CEBPA ATF3 YY1 FOXA2 MAFF RXRA SAP130 CUX1 RARA ZNF316 AP3S2 RNU6-1111P RNU7-111P ARPIN ARPIN-AP3S2 MESP2 MESP1 POLG ZNF710 ENSG00000259212
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLIN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLIN1

Genomic Locations for PLIN1 Gene

Latest Assembly
chr15:89,664,365-89,679,427
(GRCh38/hg38)
Size:
15,063 bases
Orientation:
Minus strand

Previous Assembly
chr15:90,207,598-90,222,598
(GRCh37/hg19 by Entrez Gene)
Size:
15,001 bases
Orientation:
Minus strand

chr15:90,207,596-90,222,658
(GRCh37/hg19 by Ensembl)
Size:
15,063 bases
Orientation:
Minus strand

Genomic View for PLIN1 Gene

Genes around PLIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLIN1 Gene

Proteins for PLIN1 Gene

  • Protein details for PLIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60240-PLIN1_HUMAN
    Recommended name:
    Perilipin-1
    Protein Accession:
    O60240
    Secondary Accessions:
    • Q8N5Y6

    Protein attributes for PLIN1 Gene

    Size:
    522 amino acids
    Molecular mass:
    55990 Da
    Quaternary structure:
    • Interacts with ABHD5 (By similarity). Interacts with CIDEC (PubMed:23399566). Interacts with AQP7 (PubMed:27832861).

neXtProt entry for PLIN1 Gene

Post-translational modifications for PLIN1 Gene

  • Major cAMP-dependent protein kinase-substrate in adipocytes, also dephosphorylated by PP1. When phosphorylated, may be maximally sensitive to HSL and when unphosphorylated, may play a role in the inhibition of lipolysis, by acting as a barrier in lipid droplet (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLIN1 Gene

No data available for DME Specific Peptides for PLIN1 Gene

Domains & Families for PLIN1 Gene

Gene Families for PLIN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PLIN1 Gene

InterPro:
Blocks:
  • Perilipin

Suggested Antigen Peptide Sequences for PLIN1 Gene

GenScript: Design optimal peptide antigens:
  • Lipid droplet-associated protein (PLIN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60240

UniProtKB/Swiss-Prot:

PLIN1_HUMAN :
  • Belongs to the perilipin family.
Family:
  • Belongs to the perilipin family.
genes like me logo Genes that share domains with PLIN1: view

Function for PLIN1 Gene

Molecular function for PLIN1 Gene

UniProtKB/Swiss-Prot Function:
Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.

Phenotypes From GWAS Catalog for PLIN1 Gene

Gene Ontology (GO) - Molecular Function for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding NAS 9521880
genes like me logo Genes that share ontologies with PLIN1: view
genes like me logo Genes that share phenotypes with PLIN1: view

Human Phenotype Ontology for PLIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLIN1 Gene

MGI Knock Outs for PLIN1:

Animal Models for research

  • Taconic Biosciences Mouse Models for PLIN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLIN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLIN1 Gene

Localization for PLIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLIN1 Gene

Endoplasmic reticulum. Lipid droplet. Note=Lipid droplet surface-associated. {ECO:0000269 PubMed:23399566}.

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 PLIN1 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005811 lipid droplet TAS --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PLIN1: view

Pathways & Interactions for PLIN1 Gene

genes like me logo Genes that share pathways with PLIN1: view

Pathways by source for PLIN1 Gene

1 GeneGo (Thomson Reuters) pathway for PLIN1 Gene
  • Development Beta-adrenergic receptors signaling via cAMP
2 Cell Signaling Technology pathways for PLIN1 Gene

SIGNOR curated interactions for PLIN1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 9521880
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLIN1: view

Drugs & Compounds for PLIN1 Gene

(10) Drugs for PLIN1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rosiglitazone Approved, Investigational Pharma Potent PPARγ agonist, Potent and selective PPARgamma agonist; antidiabetic agent. 226
cyclic amp Experimental Pharma 0

(11) Additional Compounds for PLIN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLIN1: view

Transcripts for PLIN1 Gene

mRNA/cDNA for PLIN1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLIN1

Alternative Splicing Database (ASD) splice patterns (SP) for PLIN1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for PLIN1 Gene

GeneLoc Exon Structure for
PLIN1

Expression for PLIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLIN1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x19.1), Adipose - Visceral (Omentum) (x16.4), and Breast - Mammary Tissue (x8.8).

Protein differential expression in normal tissues from HIPED for PLIN1 Gene

This gene is overexpressed in Adipocyte (54.0) and Nasopharynx (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLIN1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLIN1

SOURCE GeneReport for Unigene cluster for PLIN1 Gene:

Hs.103253

mRNA Expression by UniProt/SwissProt for PLIN1 Gene:

O60240-PLIN1_HUMAN
Tissue specificity: Detected in adipocytes from white adipose tissue (at protein level) (PubMed:27832861). Detected in visceral adipose tissue and mammary gland (PubMed:9521880).

Evidence on tissue expression from TISSUES for PLIN1 Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Muscle(3.1)
  • Heart(3)
  • Intestine(2.7)
  • Pancreas(2.5)
  • Stomach(2.4)
  • Kidney(2.3)
  • Skin(2.2)
  • Blood(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLIN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • neck
  • pituitary gland
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ovary
  • uterus
Limb:
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PLIN1: view

Primer products for research

No data available for Protein tissue co-expression partners for PLIN1 Gene

Orthologs for PLIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLIN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLIN1 29 30
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLIN1 29
  • 87.21 (n)
PLIN 30
  • 85 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PLIN1 29 30
  • 85.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plin1 29 16 30
  • 83.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plin1 29
  • 82.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLIN1 30
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLIN1 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLIN1 29 30
  • 59.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 27 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii plin1 29 30
  • 52.3 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea lea-1 30
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5361 30
  • 17 (a)
OneToOne
Species where no ortholog for PLIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for PLIN1 Gene

ENSEMBL:
Gene Tree for PLIN1 (if available)
TreeFam:
Gene Tree for PLIN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLIN1: view image
Alliance of Genome Resources:
Additional Orthologs for PLIN1

Paralogs for PLIN1 Gene

Paralogs for PLIN1 Gene

(1) SIMAP similar genes for PLIN1 Gene using alignment to 2 proteins:

  • PLIN1_HUMAN
  • H0YM16_HUMAN
genes like me logo Genes that share paralogs with PLIN1: view

Variants for PLIN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLIN1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1029621 Uncertain Significance: Familial partial lipodystrophy 4 89,667,112(-) T/C
NM_002666.5(PLIN1):c.1033A>G (p.Thr345Ala)
MISSENSE
1029622 Pathogenic: Familial partial lipodystrophy 4 89,670,117(-) C/T
NM_002666.5(PLIN1):c.461G>A (p.Trp154Ter)
NONSENSE
1033942 Uncertain Significance: Familial partial lipodystrophy 4 89,671,546(-) A/G
NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro)
MISSENSE
842596 Uncertain Significance: not provided 89,665,942(-) G/A
NM_002666.5(PLIN1):c.1210C>T (p.Leu404Phe)
MISSENSE
917445 Likely Benign: Monogenic diabetes 89,667,727(-) G/A
NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLIN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLIN1 Gene

Variant ID Type Subtype PubMed ID
esv3637201 CNV loss 21293372
esv3892721 CNV gain 25118596
nsv1160317 CNV duplication 26073780
nsv1660 CNV insertion 18451855
nsv570387 CNV loss 21841781

Variation tolerance for PLIN1 Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLIN1 Gene

Human Gene Mutation Database (HGMD)
PLIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLIN1
Leiden Open Variation Database (LOVD)
PLIN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLIN1 Gene

Disorders for PLIN1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for PLIN1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PLIN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLIN1_HUMAN
  • Lipodystrophy, familial partial, 4 (FPLD4) [MIM:613877]: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. {ECO:0000269 PubMed:21345103}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PLIN1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLIN1: view

No data available for Genatlas for PLIN1 Gene

Publications for PLIN1 Gene

  1. Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method. (PMID: 9521880) Nishiu J … Nakamura Y (Genomics 1998) 2 3 4 22
  2. Perilipin deficiency and autosomal dominant partial lipodystrophy. (PMID: 21345103) Gandotra S … Vigouroux C (The New England journal of medicine 2011) 3 4 72
  3. Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins. (PMID: 19638644) Kimmel AR … Londos C (Journal of lipid research 2010) 2 3 22
  4. Association of lifestyle factors, polymorphisms in adiponectin, perilipin and hormone sensitive lipase, and clinical markers in Japanese males. (PMID: 20495294) Sone Y … Otsuka Y (Journal of nutritional science and vitaminology 2010) 3 22
  5. Perilipin overexpression in mice protects against diet-induced obesity. (PMID: 19797618) Miyoshi H … Greenberg AS (Journal of lipid research 2010) 3 22

Products for PLIN1 Gene

Sources for PLIN1 Gene