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PLIN3 perilipin 3 [ Homo sapiens (human) ]

Gene ID: 10226, updated on 5-Nov-2017
Official Symbol
PLIN3provided by HGNC
Official Full Name
perilipin 3provided by HGNC
Primary source
HGNC:HGNC:16893
See related
Ensembl:ENSG00000105355 MIM:602702; Vega:OTTHUMG00000180249
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
Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (4838334..4867768, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4838346..4867780, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene fem-1 homolog A Neighboring gene toll like receptor adaptor molecule 1 Neighboring gene arrestin domain containing 5 Neighboring gene ubiquitin like with PHD and ring finger domains 1 Neighboring gene microRNA 4747 Neighboring gene lysine demethylase 4B

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Go to the HIV-1, Human Interaction Database

  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
    Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC2012, MGC11117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endosome TAS
Traceable Author Statement
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
transport vesicle TAS
Traceable Author Statement
more info
 
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

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

  1. NG_028080.1 RefSeqGene

    Range
    5001..34435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164189.1NP_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, BF222684, BQ057849, DB248921
    Consensus CDS
    CCDS59338.1
    UniProtKB/Swiss-Prot
    O60664
    UniProtKB/TrEMBL
    A0A140VJN8
    Related
    ENSP00000465596.1, OTTHUMP00000263759, ENST00000585479.5, OTTHUMT00000450439
    Conserved Domains (1) summary
    pfam03036
    Location:19410
    Perilipin; Perilipin family
  2. NM_001164194.1NP_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, DB248921
    Consensus CDS
    CCDS59337.1
    UniProtKB/Swiss-Prot
    O60664
    Related
    ENSP00000467803.1, OTTHUMP00000263757, ENST00000592528.5, OTTHUMT00000450437
    Conserved Domains (1) summary
    pfam03036
    Location:19399
    Perilipin; Perilipin family
  3. NM_005817.4NP_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, BF222684, BQ057849, DB248921
    Consensus CDS
    CCDS12137.1
    UniProtKB/Swiss-Prot
    O60664
    Related
    ENSP00000221957.3, OTTHUMP00000263756, ENST00000221957.8, OTTHUMT00000450436
    Conserved Domains (1) summary
    pfam03036
    Location:19411
    Perilipin; Perilipin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    4838334..4867768 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    4837970..4867350 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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