PLIN5 perilipin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLIN5provided by HGNC
Official Full Name: perilipin 5provided by HGNC
Primary source: HGNC:HGNC:33196
See related: Ensembl:ENSG00000214456 MIM:613248
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: MLDP; LSDA5; LSDP5; OXPAT
Summary: Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
Expression: Biased expression in fat (RPKM 26.3), ovary (RPKM 14.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (4522531..4535224, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4522543..4535236, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decoration of myocellular lipid droplets with perilipins as a marker for in vivo lipid droplet dynamics: A super-resolution microscopy study in trained athletes and insulin resistant individuals.
Title: Decoration of myocellular lipid droplets with perilipins as a marker for in vivo lipid droplet dynamics: A super-resolution microscopy study in trained athletes and insulin resistant individuals.
Lsdp5 expression is instrumental for reducing lipotoxicity in cultured liver cells.
Title: Lipid storage droplet protein 5 reduces sodium palmitate‑induced lipotoxicity in human normal liver cells by regulating lipid metabolism‑related factors.
Even though total PLIN5 protein content was almost double in Trained versus type 2 diabetes patients, PLIN5 coating did not affect lipid droplet number or size significantly.
Title: Dissociation of intramyocellular lipid storage and insulin resistance in trained athletes and type 2 diabetes patients; involvement of perilipin 5?
perilipin 5 is not restricted to certain cell types but localizes to distinct lipid droplet subpopulations reflecting a possible function in oxidative energy supply in normal tissues and in diseases.
Title: Widespread expression of perilipin 5 in normal human tissues and in diseases is restricted to distinct lipid droplet subpopulations.
Using two super-resolution imaging approaches, the study shows that in sections of human skeletal muscle PLIN2 and PLIN5 localize to lipid droplets (LD) at distinct sites, with abundance of PLIN5 at LD-mitochondria tethering sites.
Title: Super-resolution microscopy localizes perilipin 5 at lipid droplet-mitochondria interaction sites and at lipid droplets juxtaposing to perilipin 2.
The data highlight a key role of PLIN5 in lipid droplets function, first by finely adjusting lipid droplets fatty acids supply to mitochondrial oxidation, and second acting as a protective factor against lipotoxicity in skeletal muscle.
Title: Perilipin 5 fine-tunes lipid oxidation to metabolic demand and protects against lipotoxicity in skeletal muscle.
Notch1 expression is reduced and glucose-6-phosphatase and perilipin-5 (G6PC/PLIN5) are upregulated in liver biopsies from nonalcoholic steatohepatitis (NASH) and nonalcoholic fatty liver disease (NAFLD) patients.
Title: Hepatic Notch1 deletion predisposes to diabetes and steatosis via glucose-6-phosphatase and perilipin-5 upregulation.
High oxygen consumption in middle-aged men was reflected in higher perilipin 5 expression in skeletal muscle.
Title: Higher muscle content of perilipin 5 and endothelial lipase protein in trained than untrained middle-aged men.
PLIN5 was significantly colocated with ATGL, mitochondria and CGI-58, indicating a close association between the key lipolytic effectors in resting skeletal muscle.
Title: Cellular localization and associations of the major lipolytic proteins in human skeletal muscle at rest and during exercise.
Perilipin 5 as a lipid droplet protein adapted to mitochondrial energy utilization
Title: Perilipin 5, a lipid droplet protein adapted to mitochondrial energy utilization.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80514 (e-PCR)
- UniSTS:87808

RH91548 (e-PCR)
- UniSTS:86613

RH41861 (e-PCR)
- UniSTS:39011

NoName (e-PCR)
- UniSTS:490138

RH48973 (e-PCR)
- UniSTS:33243

Homology

Homologs of the PLIN5 gene: The PLIN5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 162 organisms have orthologs with human gene PLIN5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables lipase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid droplet organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in mitochondrion localization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of lipase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of triglyceride catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lipase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lipid storage	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sequestering of triglyceride	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of sequestering of triglyceride	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in lipid droplet	IDA Inferred from Direct Assay more info
colocalizes_with lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: perilipin-5

Names: lipid storage droplet protein 5

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.