• Gene id: 10226

Gene Summary

• Gene Symbol: PLIN3   Gene   UCSC   Ensembl
• Aliases: M6PRBP1, PP17, TIP47
• Gene name: perilipin 3
• Alternate names: perilipin-3, 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,
• Gene location: 19p13.3 (4867666: 4838340)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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,
• OMIM: 602301

Protein Summary

• Protein general information: O60664  
  • Name: Perilipin 3 (47 kDa mannose 6 phosphate receptor binding protein) (47 kDa MPR binding protein) (Cargo selection protein TIP47) (Mannose 6 phosphate receptor binding protein 1) (Placental protein 17) (PP17)
  • Length: 434  
  • Mass: 47075
• Sequence:

  MSADGAEADGSTQVTVEEPVQQPSVVDRVASMPLISSTCDMVSAAYASTKESYPHIKTVCDAAEKGVRTLTAAAV
  SGAQPILSKLEPQIASASEYAHRGLDKLEENLPILQQPTEKVLADTKELVSSKVSGAQEMVSSAKDTVATQLSEA
  VDATRGAVQSGVDKTKSVVTGGVQSVMGSRLGQMVLSGVDTVLGKSEEWADNHLPLTDAELARIATSLDGFDVAS
  VQQQRQEQSYFVRLGSLSERLRQHAYEHSLGKLRATKQRAQEALLQLSQVLSLMETVKQGVDQKLVEGQEKLHQM
  WLSWNQKQLQGPEKEPPKPEQVESRALTMFRDIAQQLQATCTSLGSSIQGLPTNVKDQVQQARRQVEDLQATFSS
  IHSFQDLSSSILAQSRERVASAREALDHMVEYVAQNTPVTWLVGPFAPGITEKAPEEKK

• Structural information:
  • Interpro: IPR004279  
  • STRING: ENSP00000221957
• Other Databases: GeneCards:  PLIN3  Malacards:  PLIN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005811	lipid droplet	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0010890	positive regulation of sequestering of triglyceride	IBA	biological process
GO:0019915	lipid storage	IBA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq