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PLIN1 perilipin 1 [ Homo sapiens (human) ]

Gene ID: 5346, updated on 31-Mar-2024

Summary

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Official Symbol
PLIN1provided by HGNC
Official Full Name
perilipin 1provided by HGNC
Primary source
HGNC:HGNC:9076
See related
Ensembl:ENSG00000166819 MIM:170290; AllianceGenome:HGNC:9076
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PERI; PLIN; FPLD4
Summary
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]
Expression
Restricted expression toward fat (RPKM 771.2) See more
Orthologs
mouse all
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Genomic context

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See PLIN1 in Genome Data Viewer
Location:
15q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89664367..89679367, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87420250..87435249, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90207598..90222598, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90119099-90119627 Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 Neighboring gene kinesin family member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6801 Neighboring gene Sharpr-MPRA regulatory region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene WD repeat domain 93 Neighboring gene RNA, U6 small nuclear 132, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Impact of blood perilipin A levels on obesity and metabolic health. Ofori EK, et al. BMC Res Notes, 2022 Dec 12. PMID 36503541, Free PMC Article
  2. Lipid Droplet Protein PLIN1 Regulates Inflammatory Polarity in Human Macrophages and is Involved in Atherosclerotic Plaque Development by Promoting Stable Lipid Storage. Cho KY, et al. J Atheroscler Thromb, 2023 Feb 1. PMID 35662076, Free PMC Article
  3. PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile. Patel KA, et al. J Clin Endocrinol Metab, 2022 May 17. PMID 35235652, Free PMC Article
  4. Polymorphism PLIN1 11482 G>A interacts with dietary intake to modulate anthropometric measures and lipid profile in adults with normal-weight obesity syndrome. Holzbach LC, et al. Br J Nutr, 2022 Sep 28. PMID 34725012
  5. The Utility of Perilipin in Liposarcomas: PLIN1 Differentiates Round Cell Liposarcoma From Other Round Cell Sarcomas. Compton ML, et al. Appl Immunohistochem Mol Morphol, 2021 Feb 1. PMID 32205741

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
    Title: Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
  2. Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
    Title: Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
  3. Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.
    Title: Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.
  4. RS2289487 variation in PERILIPIN gene is a predictor of weight loss and protection against impaired glucose metabolism after a meal-replacement diet in postmenopausal obese females.
    Title: RS2289487 variation in PERILIPIN gene is a predictor of weight loss and protection against impaired glucose metabolism after a meal-replacement diet in postmenopausal obese females.
  5. Lipid Droplet Protein PLIN1 Regulates Inflammatory Polarity in Human Macrophages and is Involved in Atherosclerotic Plaque Development by Promoting Stable Lipid Storage.
    Title: Lipid Droplet Protein PLIN1 Regulates Inflammatory Polarity in Human Macrophages and is Involved in Atherosclerotic Plaque Development by Promoting Stable Lipid Storage.
  6. Impact of blood perilipin A levels on obesity and metabolic health.
    Title: Impact of blood perilipin A levels on obesity and metabolic health.
  7. Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
    Title: Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
  8. Polymorphism PLIN1 11482 G>A interacts with dietary intake to modulate anthropometric measures and lipid profile in adults with normal-weight obesity syndrome.
    Title: Polymorphism PLIN1 11482 G>A interacts with dietary intake to modulate anthropometric measures and lipid profile in adults with normal-weight obesity syndrome.
  9. Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.
    Title: Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.
  10. Genetic Association between Different Metabolic Variants in APOA5 and PLIN1 in Type 2 Diabetes Mellitus among the Western Saudi Population: Case-Control Study.
    Title: Genetic Association between Different Metabolic Variants in APOA5 and PLIN1 in Type 2 Diabetes Mellitus among the Western Saudi Population: Case-Control Study.
Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
PLIN1-related familial partial lipodystrophy
MedGen: C5191005 OMIM: 613877 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet NAS
Non-traceable Author Statement
more info
 PubMed 
located_in lipid droplet TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
perilipin-1
Names
lipid droplet-associated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029172.1 RefSeqGene

    Range
    5051..20051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145311.2 → NP_001138783.1  perilipin-1

    See identical proteins and their annotated locations for NP_001138783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal non-coding exon, thus has a shorter 5' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB005293, AC013787, BC031084, BQ003487, CA427560, CB266260, CB266707
    Consensus CDS
    CCDS10353.1
    UniProtKB/Swiss-Prot
    O60240, Q8N5Y6
    Related
    ENSP00000402167.2, ENST00000430628.2
    Conserved Domains (1) summary
    pfam03036
    Location:14 → 389
    Perilipin; Perilipin family

  2. NM_002666.5 → NP_002657.3  perilipin-1

    See identical proteins and their annotated locations for NP_002657.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB005293, AC013787, BC031084, BQ003487, CA427560, CB266260, CB266707
    Consensus CDS
    CCDS10353.1
    UniProtKB/Swiss-Prot
    O60240, Q8N5Y6
    Related
    ENSP00000300055.5, ENST00000300055.10
    Conserved Domains (1) summary
    pfam03036
    Location:14 → 389
    Perilipin; Perilipin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89664367..89679367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87420250..87435249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60240.2 GenPept UniProtKB/Swiss-Prot:O60240

Gene LinkOut

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