1. Gene
  2. PLIN3 - perilipin 3 Gene

PLIN3 - perilipin 3 Gene

Homo sapiens

Also known as PP17; TIP47; M6PRBP1

Gene ID: 10226 | Gene type: protein coding

About PLIN3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,838,341-4,867,667 (from NCBI)

This gene has 7 transcripts (splice variants), 186 orthologues and 4 paralogues. Ubiquitous expression in esophagus (RPKM 42.9), small intestine (RPKM 31.3) and 24 other tissues.

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]

PLIN3 Products(3)

mRNA Protein Name
NM_001164189.2 NP_001157661.1 perilipin-3 isoform 2
NM_001164194.2 NP_001157666.1 perilipin-3 isoform 3
NM_005817.5 NP_005808.3 perilipin-3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19490898 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to glucose starvation IDA
IDA: Inferred from direct assay
34077757 GOA
involved in lipid droplet disassembly IDA
IDA: Inferred from direct assay
34077757 GOA
involved in lipid storage IDA
IDA: Inferred from direct assay
34077757 GOA
Cellular Component GO Annotation Evidence Reference Source
located in lipid droplet IDA
IDA: Inferred from direct assay
14741744 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLIN3 Protein Structure

Perilipin

Perilipin: Perilipin family (13 - 412)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 434 a.a.
Protein Preferred Names Protein Names

perilipin-3

47 kDa MPR-binding protein

Related Diseases

Diseases Alias
Suppressor Of Tumorigenicity 3

Cervical Carcinoma

ST3

Tumor-Suppressor Gene, Hela Cell Type

Tshl

Cervical Carcinoma, Tumor-Suppressor Gene Involved In

Ccts

Cervix Carcinoma

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PLIN3 VGNC VGNC:64241
Mus musculus PLIN3 MGD MGI:1914155
Rattus norvegicus PLIN3 RGD RGD:1595854
Canis familiaris PLIN3 VGNC VGNC:44692
Macaca mulatta PLIN3 VGNC VGNC:76038
Bos taurus PLIN3 VGNC VGNC:33031