PLIN1 perilipin 1 [Homo sapiens (human)] - Gene

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

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.
Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
Title: Correlational analysis of PLIN1 with inflammation in diabetic foot ulcer wounds.
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.
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.
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.
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.
Impact of blood perilipin A levels on obesity and metabolic health.
Title: Impact of blood perilipin A levels on obesity and metabolic health.
Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
Title: Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

NG_029172.1 RefSeqGene

Range

5051..20051

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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