PLIN1 (perilipin 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5346
Gene name Gene Name - the full gene name approved by the HGNC.
Perilipin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLIN1
Synonyms (NCBI Gene) Gene synonyms aliases
FPLD4, PERI, PLIN
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, whe
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs146385147 G>A,T Benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs1567075176 C>A Pathogenic Splice acceptor variant
rs1567075667 CT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(77)
miRTarBase ID miRNA Experiments Reference
MIRT648328 hsa-miR-8485 HITS-CLIP 23824327
MIRT648327 hsa-miR-501-5p HITS-CLIP 23824327
MIRT648324 hsa-miR-6878-5p HITS-CLIP 23824327
MIRT648323 hsa-miR-3175 HITS-CLIP 23824327
MIRT648322 hsa-miR-106a-3p HITS-CLIP 23824327
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
NFKB1 Activation 17272828
RELA Activation 17272828
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27832861
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005811 Component Lipid droplet IBA
GO:0005811 Component Lipid droplet IEA
GO:0005811 Component Lipid droplet NAS 9521880
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
170290 9076 ENSG00000166819
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60240
Protein name Perilipin-1 (Lipid droplet-associated protein)
Protein function Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03036 Perilipin 13 → 414 Perilipin family Family
Tissue specificity TISSUE SPECIFICITY: Detected in adipocytes from white adipose tissue (at protein level) (PubMed:27832861). Detected in visceral adipose tissue and mammary gland (PubMed:9521880). {ECO:0000269|PubMed:27832861, ECO:0000269|PubMed:9521880}.
Sequence
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  PPAR signaling pathway
Apelin signaling pathway
Thermogenesis
Regulation of lipolysis in adipocytes 		  Transcriptional regulation of white adipocyte differentiation
NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Partial Lipodystrophy plin1-related familial partial lipodystrophy rs1567075176, rs1567075667 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar
Show/Hide Text Mining Associations (56)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acth Independent Macronodular Adrenal Hyperplasia Inhibit 38098864
Acute Coronary Syndrome Associate 31877397
Adenocarcinoma Associate 20081801
Atherosclerosis Associate 35662076
Breast Neoplasms Associate 25751270, 32110804, 33380715
Breast Neoplasms Inhibit 31292488
Carcinoma Hepatocellular Associate 20081801, 39215210
Cardiovascular Diseases Inhibit 34875679
Cardiovascular Diseases Associate 35235652
Coronary Disease Associate 34883250