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    PLIN4 perilipin 4 [ Homo sapiens (human) ]

    Gene ID: 729359, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PLIN4provided by HGNC
    Official Full Name
    perilipin 4provided by HGNC
    Primary source
    HGNC:HGNC:29393
    See related
    Ensembl:ENSG00000167676 MIM:613247; AllianceGenome:HGNC:29393
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MDRV; NIPA2; S3-12; MRUPAV; KIAA1881
    Summary
    Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
    Expression
    Biased expression in fat (RPKM 510.0) and heart (RPKM 14.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See PLIN4 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4502192..4518486, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4485651..4503969, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4502204..4518498, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4365919-4366840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4368989-4369938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4369939-4370886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4372431-4373164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4373165-4373898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:4374633-4375365 and GRCh37_chr19:4375366-4376099 Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4377567-4378299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4386482-4386982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4389401-4390008 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4390009-4390615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4390616-4391224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4394991-4395501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4399905-4400734 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4402397-4403094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4403095-4403790 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4408505-4409316 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4409317-4410128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4412803-4413801 Neighboring gene chromatin assembly factor 1 subunit A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4430727-4431490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4436676-4437176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4437177-4437677 Neighboring gene Sharpr-MPRA regulatory region 9621 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4444373-4444541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4453327-4454026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13774 Neighboring gene microRNA 4746 Neighboring gene UBX domain protein 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4474209-4475158 Neighboring gene HDGF like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4534387-4534942 Neighboring gene perilipin 5 Neighboring gene leucine rich alpha-2-glycoprotein 1

    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. Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. Sangiuolo F, et al. Eur J Hum Genet, 2000 Oct. PMID 11039585
    2. Exceptional stability of a perilipin on lipid droplets depends on its polar residues, suggesting multimeric assembly. Giménez-Andrés M, et al. Elife, 2021 Apr 15. PMID 33856341, Free PMC Article
    3. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Ruggieri A, et al. Acta Neuropathol, 2020 Aug. PMID 32451610, Free PMC Article
    4. A Unique Morphological Phenotype in Chemoresistant Triple-Negative Breast Cancer Reveals Metabolic Reprogramming and PLIN4 Expression as a Molecular Vulnerability. Sirois I, et al. Mol Cancer Res, 2019 Dec. PMID 31537618
    5. Moderating effect of PLIN4 genetic variant on impulsivity traits in 5-year-old-children born small for gestational age. Rodrigues DM, et al. Prostaglandins Leukot Essent Fatty Acids, 2018 Oct. PMID 30293593

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
      Title: PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
    2. Exceptional stability of a perilipin on lipid droplets depends on its polar residues, suggesting multimeric assembly.
      Title: Exceptional stability of a perilipin on lipid droplets depends on its polar residues, suggesting multimeric assembly.
    3. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
      Title: Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
    4. These findings underlie the importance of a novel morphologic-metabolic phenotype associated with chemotherapy resistance in triple-negative breast cancer , and bring to light novel therapeutic targets resulting from vulnerabilities in this phenotype, including the expression of PLIN4 essential for stabilizing lipid droplets in resistant cells.
      Title: A Unique Morphological Phenotype in Chemoresistant Triple-Negative Breast Cancer Reveals Metabolic Reprogramming and PLIN4 Expression as a Molecular Vulnerability.
    5. We investigated whether the presence of the A allele of rs8887 SNP (PLIN4 gene), known to be associated with increased sensitivity to the consumption of n-3 PUFAs, interacts with fetal growth influencing inhibitory control. There was a significant interaction between birth weight and the presence of the A allele on SSRT performance,in which lower birth weight associated with poorer inhibitory control only in non-carrier
      Title: Moderating effect of PLIN4 genetic variant on impulsivity traits in 5-year-old-children born small for gestational age.
    6. Using synthetic lipids, we show that Plin4 amphipathic helix (AH) binds poorly to lipid bilayers but strongly interacts with pure triglycerides, acting as a coat and forming small oil droplets. Because Plin4 overexpression alleviates lipid droplet (LD) instability under conditions where their coverage by phospholipids is limiting, we propose that the Plin4 AH replaces the LD lipid monolayer, for example during LD growth.
      Title: A giant amphipathic helix from a perilipin that is adapted for coating lipid droplets.
    7. Studied weight loss in obese patients with Perilipin 4 (PLIN4), Fat mass and obesity-associated (FTO), and beta- adrenergic receptor 3 (ADRB3) polymorphisms treated with Garcinia cambogia/Glucomannan. Results suggest weight loss was attenuated in carriers of PLIN4, FTO, ADRB3 polymorphisms.
      Title: Long-term effects of Garcinia cambogia/Glucomannan on weight loss in people with obesity, PLIN4, FTO and Trp64Arg polymorphisms.
    8. PLIN2-PLIN5 proteins were all more abundant in women than in men (p = 0.037 and p < 0.0001, respectively), consistent with higher intramyocellular lipid content observed in female skeletal muscle.
      Title: Perilipin family (PLIN) proteins in human skeletal muscle: the effect of sex, obesity, and endurance training.
    9. we found a significant association between one single-nucleotide polymorphism in PLIN4 and height but not with bone traits
      Title: A Polymorphism in a gene encoding Perilipin 4 is associated with height but not with bone measures in individuals from the Framingham Osteoporosis Study.
    10. These results suggest variation at the PLIN4 locus, and its interaction with PUFA as a modulator of obesity related phenotypes, acts in part through creation of a miR-522 regulatory site
      Title: The PLIN4 variant rs8887 modulates obesity related phenotypes in humans through creation of a novel miR-522 seed site.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    Vacuolar Neuromyopathy
    MedGen: C1866139 OMIM: 601846 GeneReviews: Not available
    		not available

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1881

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    perilipin-4
    Names
    adipocyte protein S3-12
    muscular dystrophy, with rimmed vacuoles

    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.

    mRNA and Protein(s)

    1. NM_001367868.2 → NP_001354797.1  perilipin-4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC011498
      Consensus CDS
      CCDS92489.1
      UniProtKB/Swiss-Prot
      A6NEI2, Q96Q06
      Related
      ENSP00000301286.4, ENST00000301286.5
      Conserved Domains (2) summary
      cl28536
      Location:84 → 523
      COG5412; Phage-related protein [Mobilome: prophages, transposons]
      pfam03036
      Location:888 → 1365
      Perilipin; Perilipin family

    2. NM_001393888.1 → NP_001380817.1  perilipin-4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC011498
      Consensus CDS
      CCDS92490.1
      UniProtKB/TrEMBL
      A0A0J9YXN7
      Related
      ENSP00000488481.1, ENST00000633942.1
      Conserved Domains (2) summary
      cl28536
      Location:90 → 524
      COG5412; Phage-related protein [Mobilome: prophages, transposons]
      pfam03036
      Location:889 → 1366
      Perilipin; Perilipin family

    3. NM_001393889.1 → NP_001380818.1  perilipin-4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC011498
      Consensus CDS
      CCDS92490.1
      UniProtKB/TrEMBL
      A0A0J9YXN7
      Conserved Domains (2) summary
      cl28536
      Location:90 → 524
      COG5412; Phage-related protein [Mobilome: prophages, transposons]
      pfam03036
      Location:889 → 1366
      Perilipin; Perilipin family

    4. NM_001393890.1 → NP_001380819.1  perilipin-4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC011498
      Consensus CDS
      CCDS92489.1
      UniProtKB/Swiss-Prot
      A6NEI2, Q96Q06
      Conserved Domains (2) summary
      cl28536
      Location:84 → 523
      COG5412; Phage-related protein [Mobilome: prophages, transposons]
      pfam03036
      Location:888 → 1365
      Perilipin; Perilipin family

    5. NM_001393891.1 → NP_001380820.1  perilipin-4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC011498
      Consensus CDS
      CCDS92489.1
      UniProtKB/Swiss-Prot
      A6NEI2, Q96Q06
      Conserved Domains (2) summary
      cl28536
      Location:84 → 523
      COG5412; Phage-related protein [Mobilome: prophages, transposons]
      pfam03036
      Location:888 → 1365
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4502192..4518486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027193.2 → XP_016882682.1  perilipin-4 isoform X1

    2. XM_017027194.2 → XP_016882683.1  perilipin-4 isoform X1

    3. XM_011528233.3 → XP_011526535.1  perilipin-4 isoform X2

      See identical proteins and their annotated locations for XP_011526535.1

      Conserved Domains (1) summary
      pfam03036
      Location:1013 → 1415
      Perilipin; Perilipin family

    4. XM_017027192.2 → XP_016882681.1  perilipin-4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4485651..4503969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321917.1 → XP_054177892.1  perilipin-4 isoform X5

    2. XM_054321911.1 → XP_054177886.1  perilipin-4 isoform X1

    3. XM_054321912.1 → XP_054177887.1  perilipin-4 isoform X1

    4. XM_054321913.1 → XP_054177888.1  perilipin-4 isoform X2

    5. XM_054321910.1 → XP_054177885.1  perilipin-4 isoform X1

    6. XM_054321916.1 → XP_054177891.1  perilipin-4 isoform X4

    7. XM_054321915.1 → XP_054177890.1  perilipin-4 isoform X4

    8. XM_054321914.1 → XP_054177889.1  perilipin-4 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080400.1: Suppressed sequence

      Description
      NM_001080400.1: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96Q06.3 GenPept UniProtKB/Swiss-Prot:Q96Q06

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

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