PLIN3 perilipin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLIN3provided by HGNC
Official Full Name: perilipin 3provided by HGNC
Primary source: HGNC:HGNC:16893
See related: Ensembl:ENSG00000105355 MIM:602702; AllianceGenome:HGNC:16893
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: PP17; TIP47; M6PRBP1
Summary: Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]
Expression: Ubiquitous expression in esophagus (RPKM 42.9), small intestine (RPKM 31.3) and 24 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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4838341..4867667, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4823835..4853154, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4838353..4867679, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumor-derived Prevotella intermedia aggravates gastric cancer by enhancing Perilipin 3 expression.
Title: Tumor-derived Prevotella intermedia aggravates gastric cancer by enhancing Perilipin 3 expression.
Lipid droplets-related Perilipin-3: potential immune checkpoint and oncogene in oral squamous cell carcinoma.
Title: Lipid droplets-related Perilipin-3: potential immune checkpoint and oncogene in oral squamous cell carcinoma.
Binding of perilipin 3 to membranes containing diacylglycerol is mediated by conserved residues within its PAT domain.
Title: Binding of perilipin 3 to membranes containing diacylglycerol is mediated by conserved residues within its PAT domain.
Silencing of Perilipin 3 Inhibits Lung Adenocarcinoma Cell Immune Resistance by Regulating the Transcription of PD-L1 Through c-Myc.
Title: Silencing of Perilipin 3 Inhibits Lung Adenocarcinoma Cell Immune Resistance by Regulating the Transcription of PD-L1 Through c-Myc.
Structural insights into perilipin 3 membrane association in response to diacylglycerol accumulation.
Title: Structural insights into perilipin 3 membrane association in response to diacylglycerol accumulation.
Lipophagy-Related Protein Perilipin-3 and Resistance of Prostate Cancer to Radiation Therapy.
Title: Lipophagy-Related Protein Perilipin-3 and Resistance of Prostate Cancer to Radiation Therapy.
Associations of Perilipin 3 with Insulin Resistance in Arab Adults with Type 2 Diabetes.
Title: Associations of Perilipin 3 with Insulin Resistance in Arab Adults with Type 2 Diabetes.
A Mammalian Target of Rapamycin-Perilipin 3 (mTORC1-Plin3) Pathway is essential to Activate Lipophagy and Protects Against Hepatosteatosis.
Title: A Mammalian Target of Rapamycin-Perilipin 3 (mTORC1-Plin3) Pathway is essential to Activate Lipophagy and Protects Against Hepatosteatosis.
Suppressed PLIN3 frequently occurs in prostate cancer, promoting docetaxel resistance via intensified autophagy, an event reversed by chloroquine.
Title: Suppressed PLIN3 frequently occurs in prostate cancer, promoting docetaxel resistance via intensified autophagy, an event reversed by chloroquine.
Adipophilin and perilipin 3 positively correlate with total lipid content in human breast milk.
Title: Adipophilin and perilipin 3 positively correlate with total lipid content in human breast milk.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	TIP47 overexpression or RNA interference (RNAi)-mediated depletion have no significant effect on HIV-1 Env incorporation, virus release, or particle infectivity in HeLa cells and in Jurkat cells	PubMed
	env	The cytoplasmic domain (residues 801-819) of gp41 binds to TIP47, a protein required for the transport of mannose-6-phosphate receptors from endosomes to the trans-Golgi network (TGN)	PubMed
	env	TIP47 is required for the colocalization of Gag and Env in HIV-1 assembly compartments of infected macrophages	PubMed
	env	TIP47 is a connector between HIV-1 Gag and Env and is required for Env incorporation into virions	PubMed
Envelope transmembrane glycoprotein gp41	env	The cytoplasmic domain (residues 801-819) of gp41 binds to TIP47, a protein required for the transport of mannose-6-phosphate receptors from endosomes to the trans-Golgi network (TGN)	PubMed
	env	TIP47 is a connector between HIV-1 Gag and Env and is required for Env incorporation into virions	PubMed
Pr55(Gag)	gag	TIP47 is required for the colocalization of Gag and Env in HIV-1 assembly compartments of infected macrophages	PubMed
	gag	TIP47 is a connector between HIV-1 Gag and Env and is required for Env incorporation into virions	PubMed
matrix	gag	The N-terminal region (residues 1-186) of TIP47 is required for its binding to HIV-1 MA	PubMed
	gag	HIV-1 Gag binds to TIP47 in a yeast two-hybrid assay; Residues 5-16 of the HIV-1 Gag Matrix domain are required for binding to TIP47	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M6PRBP1_9066 (e-PCR)
- UniSTS:467754

RH45134 (e-PCR)
- UniSTS:44374

SHGC-64930 (e-PCR)
- UniSTS:49028

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid storage	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sequestering of triglyceride	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	TAS Traceable Author Statement more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: perilipin-3

Names: 47 kDa MPR-binding protein; cargo selection protein TIP47; mannose-6-phosphate receptor-binding protein 1; placental protein 17; tail-interacting protein, 47 kD; testicular tissue protein Li 114

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_028080.1 RefSeqGene

Range

5102..34428

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164189.2 → NP_001157661.1 perilipin-3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AK223054, AK225045, AK312740, BC019278, BQ057849

Consensus CDS

CCDS59338.1

UniProtKB/TrEMBL

A0A140VJN8

Related

ENSP00000465596.1, ENST00000585479.5

Conserved Domains (1) summary

pfam03036
Location:19 → 410

Perilipin; Perilipin family
NM_001164194.2 → NP_001157666.1 perilipin-3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC027319, AK122671, AK225045, BF683925, DB127412

Consensus CDS

CCDS59337.1

UniProtKB/Swiss-Prot

O60664

Related

ENSP00000467803.1, ENST00000592528.5

Conserved Domains (1) summary

pfam03036
Location:19 → 399

Perilipin; Perilipin family
NM_005817.5 → NP_005808.3 perilipin-3 isoform 1

See identical proteins and their annotated locations for NP_005808.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK225045, AK312740, BC019278, BQ057849

Consensus CDS

CCDS12137.1

UniProtKB/Swiss-Prot

A8K4Y9, K7EQF4, O60664, Q53G77, Q9BS03, Q9UBD7, Q9UP92

Related

ENSP00000221957.3, ENST00000221957.9

Conserved Domains (1) summary

pfam03036
Location:19 → 411

Perilipin; Perilipin family