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Aliases for PLIN1 Gene

Aliases for PLIN1 Gene

  • Perilipin 1 2 3
  • PLIN 3 4 6
  • Lipid Droplet-Associated Protein 3 4
  • FPLD4 3 6
  • PERI 3 4
  • Perilipin-1 3
  • Perilipin 2

External Ids for PLIN1 Gene

Previous Symbols for PLIN1 Gene

  • PLIN

Summaries for PLIN1 Gene

Entrez Gene Summary for PLIN1 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, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]

GeneCards Summary for PLIN1 Gene

PLIN1 (Perilipin 1) is a Protein Coding gene. Diseases associated with PLIN1 include lipodystrophy, familial partial, type 4 and chanarin-dorfman syndrome. Among its related pathways are L1CAM interactions and Metabolism. GO annotations related to this gene include lipid binding. An important paralog of this gene is PLIN2.

UniProtKB/Swiss-Prot for PLIN1 Gene

  • 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. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.

Gene Wiki entry for PLIN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLIN1 Gene

Genomics for PLIN1 Gene

Genomic Location for PLIN1 Gene

Start:
89,664,365 bp from pter
End:
89,679,427 bp from pter
Size:
15,063 bases
Orientation:
Minus strand

Genomic View for PLIN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLIN1 Gene

No data available for Regulatory Elements for PLIN1 Gene

Proteins for PLIN1 Gene

  • Protein details for PLIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60240-PLIN1_HUMAN
    Recommended name:
    Perilipin-1
    Protein Accession:
    O60240
    Secondary Accessions:
    • Q8N5Y6

    Protein attributes for PLIN1 Gene

    Size:
    522 amino acids
    Molecular mass:
    55990 Da
    Quaternary structure:
    • Interacts with ABHD5 (By similarity). Interacts with CIDEC.

neXtProt entry for PLIN1 Gene

Proteomics data for PLIN1 Gene at MOPED

Post-translational modifications for PLIN1 Gene

  • Major cAMP-dependent protein kinase-substrate in adipocytes, also dephosphorylated by PP1. When phosphorylated, may be maximally sensitive to HSL and when unphosphorylated, may play a role in the inhibition of lipolysis, by acting as a barrier in lipid droplet (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLIN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PLIN1 Gene

Domains for PLIN1 Gene

Gene Families for PLIN1 Gene

HGNC:

Protein Domains for PLIN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60240

UniProtKB/Swiss-Prot:

PLIN1_HUMAN
Family:
  • Belongs to the perilipin family.:
    • O60240
genes like me logo Genes that share domains with PLIN1: view

Function for PLIN1 Gene

Molecular function for PLIN1 Gene

UniProtKB/Swiss-Prot 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. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.

Gene Ontology (GO) - Molecular Function for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008289 lipid binding NAS 9521880
genes like me logo Genes that share ontologies with PLIN1: view
genes like me logo Genes that share phenotypes with PLIN1: view

Animal Models for PLIN1 Gene

MGI Knock Outs for PLIN1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PLIN1 Gene

Localization for PLIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLIN1 Gene

Endoplasmic reticulum. Lipid droplet. Note=Lipid droplet surface-associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLIN1 Gene COMPARTMENTS Subcellular localization image for PLIN1 gene
Compartment Confidence
nucleus 3
cytosol 2
peroxisome 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005811 lipid particle TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PLIN1: view

Pathways for PLIN1 Gene

genes like me logo Genes that share pathways with PLIN1: view

Pathways by source for PLIN1 Gene

1 GeneGo (Thomson Reuters) pathway for PLIN1 Gene
2 Cell Signaling Technology pathways for PLIN1 Gene
1 BioSystems pathway for PLIN1 Gene

Gene Ontology (GO) - Biological Process for PLIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 9521880
GO:0016042 lipid catabolic process --
GO:0019433 triglyceride catabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PLIN1: view

Compounds for PLIN1 Gene

(1) HMDB Compounds for PLIN1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(20) Novoseek inferred chemical compound relationships for PLIN1 Gene

Compound -log(P) Hits PubMed IDs
microlipid 83.9 2
triacylglycerol 80.6 22
lipid 76.4 177
fatty acid 58.9 16
glycerol 52.9 1
genes like me logo Genes that share compounds with PLIN1: view

Transcripts for PLIN1 Gene

Unigene Clusters for PLIN1 Gene

Perilipin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLIN1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for PLIN1 Gene

GeneLoc Exon Structure for
PLIN1
ECgene alternative splicing isoforms for
PLIN1

Expression for PLIN1 Gene

mRNA expression in normal human tissues for PLIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLIN1 Gene

This gene is overexpressed in Adipose - Subcutaneous (19.1), Adipose - Visceral (Omentum) (16.4), and Breast - Mammary Tissue (8.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PLIN1 Gene

SOURCE GeneReport for Unigene cluster for PLIN1 Gene Hs.103253

mRNA Expression by UniProt/SwissProt for PLIN1 Gene

O60240-PLIN1_HUMAN
Tissue specificity: Adipocytes.
genes like me logo Genes that share expressions with PLIN1: view

Orthologs for PLIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLIN1 35
  • 99.43 (n)
  • 99.23 (a)
PLIN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLIN 36
  • 85 (a)
OneToOne
PLIN1 35
  • 87.21 (n)
  • 85.47 (a)
dog
(Canis familiaris)
Mammalia PLIN1 35
  • 85.64 (n)
  • 83.43 (a)
PLIN1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plin1 35
  • 83.98 (n)
  • 82.49 (a)
Plin1 16
Plin1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLIN1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLIN1 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plin1 35
  • 82.75 (n)
  • 81.13 (a)
chicken
(Gallus gallus)
Aves PLIN1 35
  • 59.94 (n)
  • 48.25 (a)
PLIN1 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii plin1 35
  • 52.3 (n)
  • 38.21 (a)
plin1 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lea-1 36
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5361 36
  • 17 (a)
OneToOne
Species with no ortholog for PLIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PLIN1 Gene

ENSEMBL:
Gene Tree for PLIN1 (if available)
TreeFam:
Gene Tree for PLIN1 (if available)

Paralogs for PLIN1 Gene

Paralogs for PLIN1 Gene

Selected SIMAP similar genes for PLIN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PLIN1: view

Variants for PLIN1 Gene

Sequence variations from dbSNP and Humsavar for PLIN1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs894160 -- 89,668,592(-) CTAGA(A/G)GTTTA intron-variant
rs894161 -- 89,668,506(-) TTCAC(G/T)CTTAA intron-variant
rs894162 -- 89,667,816(-) CCAGC(A/T)ATCTG intron-variant
rs1036750 -- 89,668,883(-) CAATA(C/T)TAAAG intron-variant
rs1052700 -- 89,665,079(-) TGATC(A/T)AGGCT utr-variant-3-prime, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PLIN1 Gene

Variant ID Type Subtype PubMed ID
nsv904481 CNV Loss 21882294
nsv904482 CNV Loss 21882294
nsv1660 CNV Insertion 18451855
nsv904483 CNV Loss 21882294

Relevant External Links for PLIN1 Gene

HapMap Linkage Disequilibrium report
PLIN1
Human Gene Mutation Database (HGMD)
PLIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLIN1 Gene

Disorders for PLIN1 Gene

(1) OMIM Diseases for PLIN1 Gene (170290)

UniProtKB/Swiss-Prot

PLIN1_HUMAN
  • Lipodystrophy, familial partial, 4 (FPLD4) [MIM:613877]: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. {ECO:0000269 PubMed:21345103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PLIN1 Gene

(8) Novoseek inferred disease relationships for PLIN1 Gene

Disease -log(P) Hits PubMed IDs
obesity 66.6 24
insulin resistance 59 5
insulin sensitivity 51.5 3
atherosclerotic plaque 30.7 5
necrosis 16.2 3

Relevant External Links for PLIN1

Human Genome Epidemiology (HuGE) Navigator
PLIN1
genes like me logo Genes that share disorders with PLIN1: view

Publications for PLIN1 Gene

  1. Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method. (PMID: 9521880) Nishiu J. … Nakamura Y. (Genomics 1998) 2 3 4 23
  2. Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins. (PMID: 19638644) Kimmel A.R. … Londos C. (J. Lipid Res. 2010) 2 3 23
  3. Chronic TNFalpha and cAMP pre-treatment of human adipocytes alter HSL, ATGL and perilipin to regulate basal and stimulated lipolysis. (PMID: 19695247) BAczaire V. … Langin D. (FEBS Lett. 2009) 3 23
  4. Postprandial triacylglycerol metabolism is modified by the presence of genetic variation at the perilipin (PLIN) locus in 2 white populations. (PMID: 18326614) Perez-Martinez P. … Ordovas J.M. (Am. J. Clin. Nutr. 2008) 3 23
  5. Perilipin overexpression in mice protects against diet-induced obesity. (PMID: 19797618) Miyoshi H. … Greenberg A.S. (J. Lipid Res. 2010) 3 23

Products for PLIN1 Gene

Sources for PLIN1 Gene

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