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PLIN1 perilipin 1 [ Homo sapiens (human) ]

Gene ID: 5346, updated on 6-Sep-2021

Summary

Official Symbol
PLIN1provided by HGNC
Official Full Name
perilipin 1provided by HGNC
Primary source
HGNC:HGNC:9076
See related
Ensembl:ENSG00000166819 MIM:170290
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]
Expression
Restricted expression toward fat (RPKM 771.2) See more
Orthologs
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Genomic context

See PLIN1 in Genome Data Viewer
Location:
15q26.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89664365..89679367, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90207598..90222598, 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 Neighboring gene RNA, U6 small nuclear 132, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to cold IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet NAS
Non-traceable Author Statement
more info
PubMed 
located_in lipid droplet TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
perilipin-1
Names
lipid droplet-associated protein

NCBI Reference Sequences (RefSeq)

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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
    5051..20051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145311.2NP_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
    ENSP00000402167.2, ENST00000430628.2
    Conserved Domains (1) summary
    pfam03036
    Location:14389
    Perilipin; Perilipin family
  2. NM_002666.5NP_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
    ENSP00000300055.5, ENST00000300055.10
    Conserved Domains (1) summary
    pfam03036
    Location:14389
    Perilipin; Perilipin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    89664365..89679367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254934.4XP_005254991.1  perilipin-1 isoform X1

    See identical proteins and their annotated locations for XP_005254991.1

    UniProtKB/Swiss-Prot
    O60240
    Conserved Domains (1) summary
    pfam03036
    Location:14389
    Perilipin; Perilipin family
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