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PLIN1 perilipin 1 [ Homo sapiens (human) ]

Gene ID: 5346, updated on 26-May-2016
Official Symbol
PLIN1provided by HGNC
Official Full Name
perilipin 1provided by HGNC
Primary source
HGNC:HGNC:9076
See related
Ensembl:ENSG00000166819 HPRD:01364; MIM:170290; Vega:OTTHUMG00000149813
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
PERI; PLIN; FPLD4
Summary
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]
Orthologs
Location:
15q26
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (89664365..89679417, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90207598..90222648, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene kinesin family member 7 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene WD repeat domain 93

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis, organism-specific biosystem (from REACTOME)
    Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis, organism-specific biosystemTriacylglycerol is a major energy store in the body and its hydrolysis to yield fatty acids and glycerol is a tightly regulated part of energy metabolism. A central part in this regulation is played ...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • 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...
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
    Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
lipid particle NAS
Non-traceable Author Statement
more info
PubMed 
lipid particle TAS
Traceable Author Statement
more info
 
Preferred Names
perilipin-1
Names
lipid droplet-associated protein

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_029172.1 RefSeqGene

    Range
    5001..20051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145311.1NP_001138783.1  perilipin-1

    See identical proteins and their annotated locations for NP_001138783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal non-coding exon, thus has a shorter 5' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB005293, AC013787, BC031084, BQ003487, CA427560, CB266260, CB266707
    Consensus CDS
    CCDS10353.1
    UniProtKB/Swiss-Prot
    O60240
    Related
    ENSP00000402167, OTTHUMP00000228582, ENST00000430628, OTTHUMT00000382110
    Conserved Domains (1) summary
    pfam03036
    Location:8389
    Perilipin; Perilipin family
  2. NM_002666.4NP_002657.3  perilipin-1

    See identical proteins and their annotated locations for NP_002657.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB005293, AC013787, BC031084, BQ003487, CA427560, CB266260, CB266707
    Consensus CDS
    CCDS10353.1
    UniProtKB/Swiss-Prot
    O60240
    Related
    ENSP00000300055, OTTHUMP00000194689, ENST00000300055, OTTHUMT00000313424
    Conserved Domains (1) summary
    pfam03036
    Location:8389
    Perilipin; Perilipin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    89664365..89679417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254934.3XP_005254991.1  

    See identical proteins and their annotated locations for XP_005254991.1

    UniProtKB/Swiss-Prot
    O60240
    Conserved Domains (1) summary
    pfam03036
    Location:8389
    Perilipin; Perilipin family

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    90048432..90063481 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)