Gene Gene information from NCBI Gene database.
Entrez ID 10226
Gene name Perilipin 3
Gene symbol PLIN3
Synonyms (NCBI Gene)
M6PRBP1PP17TIP47
Chromosome 19
Chromosome location 19p13.3
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,
miRNA miRNA information provided by mirtarbase database.
436
miRTarBase ID miRNA Experiments Reference
MIRT016368 hsa-miR-193b-3p Proteomics 21512034
MIRT021117 hsa-miR-186-5p Sequencing 20371350
MIRT023413 hsa-miR-30b-5p Sequencing 20371350
MIRT025384 hsa-miR-34a-5p Proteomics 21566225
MIRT025384 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19490898, 23593007, 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 9590177
GO:0005768 Component Endosome IEA
GO:0005768 Component Endosome TAS 9590177
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602702 16893 ENSG00000105355
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60664
Protein 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)
Protein function Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets (PubMed:34077757). Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03036 Perilipin 18 425 Perilipin family Family
Sequence
Sequence length 434
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Triglyceride catabolism
Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31119787
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 20081801, 37464334 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 10393528, 11299819
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29773494
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 33482299 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 26171795 Associate
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 27941027
★☆☆☆☆
Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 26170028 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36293388 Stimulate
★☆☆☆☆
Found in Text Mining only