PLIN1

Protein identityUniProt · HPA

UniProt accession

O60240

Gene

PLIN1

Ensembl

ENSG00000166819

Chromosome

15

Canonical length

522 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Peroxisomes

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>O60240|PLIN1
     1  MAVNKGLTLL DGDLPEQENV LQRVLQLPVV SGTCECFQKT YTSTKEAHPL VASVCNAYEK
    61  GVQSASSLAA WSMEPVVRRL STQFTAANEL ACRGLDHLEE KIPALQYPPE KIASELKDTI
   121  STRLRSARNS ISVPIASTSD KVLGAALAGC ELAWGVARDT AEFAANTRAG RLASGGADLA
   181  LGSIEKVVEY LLPPDKEESA PAPGHQQAQK SPKAKPSLLS RVGALTNTLS RYTVQTMARA
   241  LEQGHTVAMW IPGVVPLSSL AQWGASVAMQ AVSRRRSEVR VPWLHSLAAA QEEDHEDQTD
   301  TEGEDTEEEE ELETEENKFS EVAALPGPRG LLGGVAHTLQ KTLQTTISAV TWAPAAVLGM
   361  AGRVLHLTPA PAVSSTKGRA MSLSDALKGV TDNVVDTVVH YVPLPRLSLM EPESEFRDID
   421  NPPAEVERRE AERRASGAPS AGPEPAPRLA QPRRSLRSAQ SPGAPPGPGL EDEVATPAAP
   481  RPGFPAVPRE KPKRRVSDSF FRPSVMEPIL GRTHYSQLRK KS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

898 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLIN1.

Disease | AllUniProt

Conditions PLIN1 is implicated in, by any mechanism.

• Lipodystrophy, familial partial, 4 (FPLD4) MIM:613877

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 195 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PLIN1-related familial partial lipodystrophy

ReferencesPubMed · IEDB

Publications for PLIN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.26

gnomAD pLI

0

gnomAD missense Z

-0.93

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to cold
• lipid catabolic process
• lipid metabolic process

Molecular functions

• lipid binding

Cellular components

• cytosol
• endoplasmic reticulum
• lipid droplet

Protein domainsUniProt · Pfam · InterPro

• Perilipin
• Perilipin family
• Perilipin-1

KeywordsUniProt

• Endoplasmic reticulum
• Lipid droplet
• Lipid metabolism
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of PLIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABHD5
• AQP7
• CIDEC