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Aliases for PLIN3 Gene

Aliases for PLIN3 Gene

  • Perilipin 3 2 3 5
  • Placental Protein 17 2 3 4
  • Mannose-6-Phosphate Receptor-Binding Protein 1 3 4
  • Cargo Selection Protein TIP47 3 4
  • 47 KDa MPR-Binding Protein 3 4
  • M6PRBP1 3 4
  • TIP47 3 4
  • PP17 3 4
  • Cargo Selection Protein (Mannose 6 Phosphate Receptor Binding Protein) 2
  • 47 KDa Mannose 6-Phosphate Receptor-Binding Protein 4
  • Mannose-6-Phosphate Receptor Binding Protein 1 2
  • Testicular Tissue Protein Li 114 3
  • Tail-Interacting Protein, 47 KD 3
  • MPR-BINDING PROTEIN, 47-KD 2
  • Perilipin-3 3

External Ids for PLIN3 Gene

Previous HGNC Symbols for PLIN3 Gene

  • M6PRBP1

Previous GeneCards Identifiers for PLIN3 Gene

  • GC19M004790
  • GC19M004600

Summaries for PLIN3 Gene

Entrez Gene Summary for PLIN3 Gene

  • 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]

GeneCards Summary for PLIN3 Gene

PLIN3 (Perilipin 3) is a Protein Coding gene. Diseases associated with PLIN3 include Hereditary Spastic Paraplegia. Among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Metabolism. An important paralog of this gene is PLIN2.

UniProtKB/Swiss-Prot for PLIN3 Gene

  • Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.

Gene Wiki entry for PLIN3 Gene

Additional gene information for PLIN3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLIN3 Gene

Genomics for PLIN3 Gene

GeneHancer (GH) Regulatory Elements for PLIN3 Gene

Promoters and enhancers for PLIN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I004865 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.4 -0.9 -886 5.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PLIN3 SNRPEP4 DUS3L SAFB SAFB2 CCDC94 ENSG00000269807 DPP9-AS1 SEMA6B TICAM1
GH19I004907 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -44.9 -44915 9.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 E2F8 ZNF143 UHRF1 ENSG00000267030 SAFB SAFB2 KDM4B DPP9-AS1 DUS3L PLIN3 VMAC ENSG00000267769
GH19I004828 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.2 +36.6 36602 4.6 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B TICAM1 GC19P004832 SAFB2 PLIN3 SAFB ARRDC5 FEM1A MIR7-3 MIR7-3HG SNRPEP4
GH19I004811 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +53.4 53419 5.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B DUS3L CCDC94 TICAM1 SNRPEP4 SEMA6B ENSG00000267030 SAFB PLIN3 DPP9-AS1 ENSG00000267769
GH19I004987 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.2 -122.5 -122452 5.9 HDAC1 FOXA2 KLF17 ZNF2 YY1 TCF12 ATF7 RCOR1 EGR2 ZNF148 KDM4B GC19M004987 ARRDC5 PLIN3 PTPRS UHRF1 GC19P005074
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLIN3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PLIN3 Gene

Genomic Locations for PLIN3 Gene
chr19:4,838,334-4,867,768
(GRCh38/hg38)
Size:
29,435 bases
Orientation:
Minus strand
chr19:4,838,346-4,867,780
(GRCh37/hg19)

Genomic View for PLIN3 Gene

Genes around PLIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLIN3 Gene

Proteins for PLIN3 Gene

  • Protein details for PLIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60664-PLIN3_HUMAN
    Recommended name:
    Perilipin-3
    Protein Accession:
    O60664
    Secondary Accessions:
    • A8K4Y9
    • K7EQF4
    • Q53G77
    • Q9BS03
    • Q9UBD7
    • Q9UP92

    Protein attributes for PLIN3 Gene

    Size:
    434 amino acids
    Molecular mass:
    47075 Da
    Quaternary structure:
    • Homooligomer. Interacts with M6PR (via the cytoplasmic domain). Interacts with IGF2R (via the cytoplasmic domain). Isoform 2 may exist as a homodimer (known as PP17C).

    Alternative splice isoforms for PLIN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLIN3 Gene

Post-translational modifications for PLIN3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PLIN3 Gene

Domains & Families for PLIN3 Gene

Gene Families for PLIN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PLIN3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLIN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60664

UniProtKB/Swiss-Prot:

PLIN3_HUMAN :
  • Belongs to the perilipin family.
Family:
  • Belongs to the perilipin family.
genes like me logo Genes that share domains with PLIN3: view

Function for PLIN3 Gene

Molecular function for PLIN3 Gene

UniProtKB/Swiss-Prot Function:
Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.

Phenotypes From GWAS Catalog for PLIN3 Gene

Gene Ontology (GO) - Molecular Function for PLIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19490898
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with PLIN3: view
genes like me logo Genes that share phenotypes with PLIN3: view

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLIN3 Gene

Localization for PLIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLIN3 Gene

Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lipid droplet. Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLIN3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endosome 5
nucleus 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9590177
GO:0005768 endosome TAS 9590177
GO:0005794 Golgi apparatus TAS 9590177
GO:0005811 lipid droplet IDA,IEA 14741744
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLIN3: view

Pathways & Interactions for PLIN3 Gene

genes like me logo Genes that share pathways with PLIN3: view

Gene Ontology (GO) - Biological Process for PLIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0016192 vesicle-mediated transport TAS 9590177
genes like me logo Genes that share ontologies with PLIN3: view

No data available for SIGNOR curated interactions for PLIN3 Gene

Drugs & Compounds for PLIN3 Gene

(4) Drugs for PLIN3 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galsulfase Approved, Investigational Pharma Target, binder 0
Idursulfase Approved Pharma Target 0
Mannose 6-phosphate Investigational Pharma 0

(2) Additional Compounds for PLIN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLIN3: view

Transcripts for PLIN3 Gene

mRNA/cDNA for PLIN3 Gene

Unigene Clusters for PLIN3 Gene

Perilipin 3:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLIN3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: - -
SP6: - - -
SP7: -
SP8:

Relevant External Links for PLIN3 Gene

GeneLoc Exon Structure for
PLIN3
ECgene alternative splicing isoforms for
PLIN3

Expression for PLIN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLIN3 Gene

mRNA differential expression in normal tissues according to GTEx for PLIN3 Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for PLIN3 Gene

This gene is overexpressed in Bone (27.0) and Bone marrow stromal cell (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLIN3 Gene



Protein tissue co-expression partners for PLIN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLIN3 Gene:

PLIN3

SOURCE GeneReport for Unigene cluster for PLIN3 Gene:

Hs.140452

Evidence on tissue expression from TISSUES for PLIN3 Gene

  • Liver(4.6)
  • Intestine(4.4)
  • Muscle(4.4)
  • Nervous system(4.4)
  • Skin(4.3)
  • Kidney(2.5)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with PLIN3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLIN3 Gene

Orthologs for PLIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLIN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLIN3 34 33
  • 98.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLIN3 34 33
  • 84.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLIN3 33
  • 83.1 (n)
M6PRBP1 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plin3 16 34 33
  • 77.12 (n)
rat
(Rattus norvegicus)
Mammalia Plin3 33
  • 76.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PLIN3 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLIN3 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857433 33
  • 67.74 (n)
PLIN3 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLIN3 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487248 33
  • 58.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53750 33
zebrafish
(Danio rerio)
Actinopterygii si:rp71-61h23.4 33
  • 55.04 (n)
worm
(Caenorhabditis elegans)
Secernentea lea-1 34
  • 7 (a)
OneToMany
Species where no ortholog for PLIN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLIN3 Gene

ENSEMBL:
Gene Tree for PLIN3 (if available)
TreeFam:
Gene Tree for PLIN3 (if available)

Paralogs for PLIN3 Gene

Paralogs for PLIN3 Gene

(3) SIMAP similar genes for PLIN3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PLIN3: view

Variants for PLIN3 Gene

Sequence variations from dbSNP and Humsavar for PLIN3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000001466 -- 4,858,994(-) G/A intron_variant
rs1000025093 -- 4,847,348(-) G/A intron_variant
rs1000065017 -- 4,857,845(-) A/G intron_variant
rs1000098172 -- 4,862,270(-) A/G intron_variant
rs1000224993 -- 4,843,189(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLIN3 Gene

Variant ID Type Subtype PubMed ID
esv2664700 CNV deletion 23128226
esv2762022 CNV loss 21179565
esv3584953 CNV gain 24956385
esv3643514 CNV loss 21293372
esv3643515 CNV loss 21293372
esv3893158 CNV loss 25118596
nsv1062709 CNV loss 25217958
nsv1065556 CNV loss 25217958
nsv1131389 CNV deletion 24896259
nsv470117 CNV loss 18288195
nsv516323 CNV loss 19592680
nsv522005 CNV loss 19592680
nsv528462 CNV loss 19592680
nsv578455 CNV loss 21841781

Variation tolerance for PLIN3 Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLIN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLIN3 Gene

Disorders for PLIN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLIN3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search PLIN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLIN3

genes like me logo Genes that share disorders with PLIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLIN3 Gene

Publications for PLIN3 Gene

  1. TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking. (PMID: 9590177) Díaz E … Pfeffer SR (Cell 1998) 2 3 4 22 58
  2. Spatial integration of TIP47 and adipophilin in macrophage lipid bodies. (PMID: 15545278) Robenek H … Troyer D (The Journal of biological chemistry 2005) 3 4 22 58
  3. Cloning and sequencing of human oncodevelopmental soluble placental tissue protein 17 (PP17): homology with adipophilin and the mouse adipose differentiation-related protein. (PMID: 10393528) Than NG … Bohn H (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 1999) 3 4 22 58
  4. Cloning and sequence analysis of cDNAs encoding human placental tissue protein 17 (PP17) variants. (PMID: 9874244) Than NG … Bohn H (European journal of biochemistry 1998) 3 4 22 58
  5. Purification and characterization of two new soluble placental tissue proteins (PP13 and PP17). (PMID: 6856484) Bohn H … Winckler W (Oncodevelopmental biology and medicine : the journal of the International Society for Oncodevelopmental Biology and Medicine 1983) 2 3 4 58

Products for PLIN3 Gene

Sources for PLIN3 Gene

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