Human Gene PLIN3 (uc002mbj.2)
  Description: Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.
RefSeq Summary (NM_005817): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:4,838,346-4,867,780 Size: 29,435 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr19:4,839,204-4,861,406 Size: 22,203 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:4,838,346-4,867,780)mRNA (may differ from genome)Protein (434 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLIN3_HUMAN
DESCRIPTION: RecName: Full=Perilipin-3; AltName: Full=47 kDa mannose 6-phosphate receptor-binding protein; Short=47 kDa MPR-binding protein; AltName: Full=Cargo selection protein TIP47; AltName: Full=Mannose-6-phosphate receptor-binding protein 1; AltName: Full=Placental protein 17; Short=PP17;
FUNCTION: Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.
SUBUNIT: 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).
INTERACTION: O94955:RHOBTB3; NbExp=1; IntAct=EBI-725795, EBI-2367123;
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Lipid droplet (Potential). Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails.
SIMILARITY: Belongs to the perilipin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.03 RPKM in Cells - Cultured fibroblasts
Total median expression: 1039.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.80177-0.321 Picture PostScript Text
3' UTR -310.34858-0.362 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004279 - Perilipin

Pfam Domains:
PF01442 - Apolipoprotein A1/A4/E domain
PF03036 - Perilipin family

SCOP Domains:
109775 - Mannose-6-phosphate receptor binding protein 1 (Tip47), C-terminal domain

ModBase Predicted Comparative 3D Structure on O60664
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0016192 vesicle-mediated transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030133 transport vesicle


-  Descriptions from all associated GenBank mRNAs
  LF385208 - JP 2014500723-A/192711: Polycomb-Associated Non-Coding RNAs.
BC047478 - Homo sapiens mannose-6-phosphate receptor binding protein 1, mRNA (cDNA clone IMAGE:5301145), **** WARNING: chimeric clone ****.
BC019278 - Homo sapiens mannose-6-phosphate receptor binding protein 1, mRNA (cDNA clone MGC:3816 IMAGE:2905275), complete cds.
AF051315 - Homo sapiens placental protein 17a1 (PP17) mRNA, complete cds.
AF051314 - Homo sapiens placental protein 17a2 (PP17) mRNA, complete cds.
BC001590 - Homo sapiens mannose-6-phosphate receptor binding protein 1, mRNA (cDNA clone MGC:2012 IMAGE:2987965), complete cds.
AF055574 - Homo sapiens placental protein 17b1 (PP17) mRNA, complete cds.
AK226088 - Homo sapiens mRNA for mannose 6 phosphate receptor binding protein 1 variant, clone: bm04618.
BC005818 - Homo sapiens mannose-6-phosphate receptor binding protein 1, mRNA (cDNA clone MGC:11117 IMAGE:3833411), complete cds.
BC007566 - Homo sapiens mannose-6-phosphate receptor binding protein 1, mRNA (cDNA clone MGC:15516 IMAGE:3028104), complete cds.
AF057140 - Homo sapiens cargo selection protein TIP47 (TIP47) mRNA, complete cds.
AK122671 - Homo sapiens cDNA FLJ16114 fis, clone 3NB692006952, highly similar to CARGO SELECTION PROTEIN TIP47.
AK225045 - Homo sapiens mRNA for mannose 6 phosphate receptor binding protein 1 variant, clone: adKA03508.
AK225400 - Homo sapiens mRNA for mannose 6 phosphate receptor binding protein 1 variant, clone: HRC04492.
AK291104 - Homo sapiens cDNA FLJ78245 complete cds, highly similar to Homo sapiens mannose-6-phosphate receptor binding protein 1 (M6PRBP1), mRNA.
AK223054 - Homo sapiens mRNA for mannose 6 phosphate receptor binding protein 1 variant, clone: KAT00370.
HM005427 - Homo sapiens clone HTL-T-114 testicular tissue protein Li 114 mRNA, complete cds.
DQ892624 - Synthetic construct clone IMAGE:100005254; FLH188411.01X; RZPDo839C0173D mannose-6-phosphate receptor binding protein 1 (M6PRBP1) gene, encodes complete protein.
BT007235 - Homo sapiens cargo selection protein (mannose 6 phosphate receptor binding protein) mRNA, complete cds.
AK312740 - Homo sapiens cDNA, FLJ93147.
KJ898176 - Synthetic construct Homo sapiens clone ccsbBroadEn_07570 PLIN3 gene, encodes complete protein.
KJ898177 - Synthetic construct Homo sapiens clone ccsbBroadEn_07571 PLIN3 gene, encodes complete protein.
DQ895864 - Synthetic construct Homo sapiens clone IMAGE:100010324; FLH188407.01L; RZPDo839C0163D mannose-6-phosphate receptor binding protein 1 (M6PRBP1) gene, encodes complete protein.
AB489178 - Synthetic construct DNA, clone: pF1KB7600, Homo sapiens M6PRBP1 gene for mannose-6-phosphate receptor binding protein 1, without stop codon, in Flexi system.
CU675165 - Synthetic construct Homo sapiens gateway clone IMAGE:100017259 5' read M6PRBP1 mRNA.
MA620785 - JP 2018138019-A/192711: Polycomb-Associated Non-Coding RNAs.
JD347148 - Sequence 328172 from Patent EP1572962.
JD366583 - Sequence 347607 from Patent EP1572962.
JD534848 - Sequence 515872 from Patent EP1572962.
JD105988 - Sequence 87012 from Patent EP1572962.
JD517767 - Sequence 498791 from Patent EP1572962.
JD149437 - Sequence 130461 from Patent EP1572962.
JD406761 - Sequence 387785 from Patent EP1572962.
JD523424 - Sequence 504448 from Patent EP1572962.
JD170064 - Sequence 151088 from Patent EP1572962.
JD529603 - Sequence 510627 from Patent EP1572962.
JD170065 - Sequence 151089 from Patent EP1572962.
JD529604 - Sequence 510628 from Patent EP1572962.
JD133669 - Sequence 114693 from Patent EP1572962.
JD430413 - Sequence 411437 from Patent EP1572962.
JD170063 - Sequence 151087 from Patent EP1572962.
JD528075 - Sequence 509099 from Patent EP1572962.
JD483576 - Sequence 464600 from Patent EP1572962.
JD522246 - Sequence 503270 from Patent EP1572962.
JD556291 - Sequence 537315 from Patent EP1572962.
JD558239 - Sequence 539263 from Patent EP1572962.
JD564296 - Sequence 545320 from Patent EP1572962.
JD522245 - Sequence 503269 from Patent EP1572962.
JD556290 - Sequence 537314 from Patent EP1572962.
JD421688 - Sequence 402712 from Patent EP1572962.
JD076505 - Sequence 57529 from Patent EP1572962.
JD432557 - Sequence 413581 from Patent EP1572962.
JD131079 - Sequence 112103 from Patent EP1572962.
JD513676 - Sequence 494700 from Patent EP1572962.
JD189694 - Sequence 170718 from Patent EP1572962.
JD258712 - Sequence 239736 from Patent EP1572962.
JD436027 - Sequence 417051 from Patent EP1572962.
JD389998 - Sequence 371022 from Patent EP1572962.
LF341728 - JP 2014500723-A/149231: Polycomb-Associated Non-Coding RNAs.
DQ590904 - Homo sapiens piRNA piR-58016, complete sequence.
MA577305 - JP 2018138019-A/149231: Polycomb-Associated Non-Coding RNAs.
JD025091 - Sequence 6115 from Patent EP1572962.
CU675709 - Synthetic construct Homo sapiens gateway clone IMAGE:100019382 5' read M6PRBP1 mRNA.
JD027203 - Sequence 8227 from Patent EP1572962.
LF341729 - JP 2014500723-A/149232: Polycomb-Associated Non-Coding RNAs.
LF341730 - JP 2014500723-A/149233: Polycomb-Associated Non-Coding RNAs.
JD406882 - Sequence 387906 from Patent EP1572962.
MA577306 - JP 2018138019-A/149232: Polycomb-Associated Non-Coding RNAs.
MA577307 - JP 2018138019-A/149233: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O60664 (Reactome details) participates in the following event(s):

R-HSA-6814670 ATP hydrolysis by RHOBTB3 promotes PLIN3 dissociation
R-HSA-6814675 RAB9 binds RHOBTB3, bringing late endosome-derived vesicles to the TGN
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Y9, M6PRBP1, NM_005817, NP_005808, O60664, PLIN3_HUMAN, Q53G77, Q9BS03, Q9UBD7, Q9UP92, TIP47
UCSC ID: uc002mbj.2
RefSeq Accession: NM_005817
Protein: O60664 (aka PLIN3_HUMAN)
CCDS: CCDS12137.1, CCDS59337.1, CCDS59338.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005817.4
exon count: 8CDS single in 3' UTR: no RNA size: 2345
ORF size: 1305CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2738.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.