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    PLIN1 perilipin 1 [ Homo sapiens (human) ]

    Gene ID: 5346, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89664367..89679367, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87420250..87435249, complement)
    RS_2024_09 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 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. Preliminary findings on the role of PLIN1 polymorphisms on body composition and energy metabolism response to energy restriction in obese women. Ruiz JR, et al. Br J Nutr, 2011 Aug. PMID 21392418
    2. Polymorphisms in perilipin gene (PLIN) are not associated with obesity and weight variation in people with high risk of type 2 diabetes. Bergmann A, et al. Exp Clin Endocrinol Diabetes, 2008 Sep. PMID 18777456
    3. Perilipin polymorphism interacts with dietary carbohydrates to modulate anthropometric traits in hispanics of Caribbean origin. Smith CE, et al. J Nutr, 2008 Oct. PMID 18806092, Free PMC Article
    4. Effects of perilipin (PLIN) gene variation on metabolic syndrome risk and weight loss in obese children and adolescents. Deram S, et al. J Clin Endocrinol Metab, 2008 Dec. PMID 18812483, Free PMC Article
    5. Relationship between perilipin gene polymorphisms and body weight and body composition during weight loss and weight maintenance. Soenen S, et al. Physiol Behav, 2009 Mar 23. PMID 19385027

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical pathological significance and biological function of PLIN1 in hepatocellular carcinoma: bioinformatics analysis and in vitro experiments.
      Title: Clinical pathological significance and biological function of PLIN1 in hepatocellular carcinoma: bioinformatics analysis and in vitro experiments.
    2. Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
      Title: Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Impact of blood perilipin A levels on obesity and metabolic health.
      Title: Impact of blood perilipin A levels on obesity and metabolic health.
    8. Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
      Title: Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (90)

    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
    		Compare labs

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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