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O60240 (PLIN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Perilipin-1
Alternative name(s):
Lipid droplet-associated protein
Gene names
Name:PLIN1
Synonyms:PERI, PLIN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.5

Subunit structure

Interacts with ABHD5 By similarity. Interacts with CIDEC. Ref.5

Subcellular location

Endoplasmic reticulum. Lipid droplet. Note: Lipid droplet surface-associated. Ref.5

Tissue specificity

Adipocytes. Ref.1

Post-translational modification

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the perilipin family.

Ontologies

Keywords
   Biological processLipid metabolism
   Cellular componentEndoplasmic reticulum
Lipid droplet
   Coding sequence diversityPolymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlipid metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

triglyceride catabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-SubCell

lipid particle

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionlipid binding

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 522522Perilipin-1
PRO_0000099884

Regions

Region291 – 31929Required for interaction with CIDEC By similarity
Compositional bias307 – 31610Poly-Glu

Amino acid modifications

Modified residue4081Phosphoserine By similarity

Natural variations

Natural variant1941P → A. Ref.1 Ref.3
Corresponds to variant rs6496589 [ dbSNP | Ensembl ].
VAR_055046
Natural variant2101K → E. Ref.3
Corresponds to variant rs17852910 [ dbSNP | Ensembl ].
VAR_055047
Natural variant2711A → V.
Corresponds to variant rs58361219 [ dbSNP | Ensembl ].
VAR_061505
Natural variant3481S → L.
Corresponds to variant rs8179071 [ dbSNP | Ensembl ].
VAR_055048

Experimental info

Sequence conflict5101L → V in BAA25420. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O60240 [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: 394FC14388EB5DCC

FASTA52255,990
        10         20         30         40         50         60 
MAVNKGLTLL DGDLPEQENV LQRVLQLPVV SGTCECFQKT YTSTKEAHPL VASVCNAYEK 

        70         80         90        100        110        120 
GVQSASSLAA WSMEPVVRRL STQFTAANEL ACRGLDHLEE KIPALQYPPE KIASELKDTI 

       130        140        150        160        170        180 
STRLRSARNS ISVPIASTSD KVLGAALAGC ELAWGVARDT AEFAANTRAG RLASGGADLA 

       190        200        210        220        230        240 
LGSIEKVVEY LLPPDKEESA PAPGHQQAQK SPKAKPSLLS RVGALTNTLS RYTVQTMARA 

       250        260        270        280        290        300 
LEQGHTVAMW IPGVVPLSSL AQWGASVAMQ AVSRRRSEVR VPWLHSLAAA QEEDHEDQTD 

       310        320        330        340        350        360 
TEGEDTEEEE ELETEENKFS EVAALPGPRG LLGGVAHTLQ KTLQTTISAV TWAPAAVLGM 

       370        380        390        400        410        420 
AGRVLHLTPA PAVSSTKGRA MSLSDALKGV TDNVVDTVVH YVPLPRLSLM EPESEFRDID 

       430        440        450        460        470        480 
NPPAEVERRE AERRASGAPS AGPEPAPRLA QPRRSLRSAQ SPGAPPGPGL EDEVATPAAP 

       490        500        510        520 
RPGFPAVPRE KPKRRVSDSF FRPSVMEPIL GRTHYSQLRK KS 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method."
Nishiu J., Tanaka T., Nakamura Y.
Genomics 48:254-257(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ALA-194.
Tissue: Adipocyte.
[2]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ALA-194 AND GLU-210.
Tissue: Brain.
[4]"Perilipin deficiency and autosomal dominant partial lipodystrophy."
Gandotra S., Le Dour C., Bottomley W., Cervera P., Giral P., Reznik Y., Charpentier G., Auclair M., Delepine M., Barroso I., Semple R.K., Lathrop M., Lascols O., Capeau J., O'Rahilly S., Magre J., Savage D.B., Vigouroux C.
N. Engl. J. Med. 364:740-748(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FPLD4.
[5]"FSP27 and PLIN1 interaction promotes the formation of large lipid droplets in human adipocytes."
Grahn T.H., Zhang Y., Lee M.J., Sommer A.G., Mostoslavsky G., Fried S.K., Greenberg A.S., Puri V.
Biochem. Biophys. Res. Commun. 432:296-301(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN UNILOCULAR LIPID DROPLET FORMATION AND LIPOLYSIS, INTERACTION WITH CIDEC, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Fat, wonderful fat - Issue 10 of May 2001

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB005293 mRNA. Translation: BAA25420.1.
AC013787 Genomic DNA. No translation available.
BC031084 mRNA. Translation: AAH31084.1.
CCDSCCDS10353.1.
RefSeqNP_001138783.1. NM_001145311.1.
NP_002657.3. NM_002666.4.
XP_005254991.1. XM_005254934.2.
UniGeneHs.103253.

3D structure databases

ProteinModelPortalO60240.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111361. 1 interaction.
STRING9606.ENSP00000300055.

Chemistry

BindingDBO60240.
ChEMBLCHEMBL1741164.

PTM databases

PhosphoSiteO60240.

Proteomic databases

PaxDbO60240.
PRIDEO60240.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300055; ENSP00000300055; ENSG00000166819.
ENST00000430628; ENSP00000402167; ENSG00000166819.
GeneID5346.
KEGGhsa:5346.
UCSCuc002boh.2. human.

Organism-specific databases

CTD5346.
GeneCardsGC15M090208.
H-InvDBHIX0202172.
HGNCHGNC:9076. PLIN1.
HPACAB033821.
CAB037333.
HPA024299.
MIM170290. gene.
613877. phenotype.
neXtProtNX_O60240.
Orphanet280356. Familial partial lipodystrophy associated with PLIN1 mutations.
PharmGKBPA33409.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG75006.
HOGENOMHOG000261608.
InParanoidO60240.
KOK08768.
OMAASVCNAY.
OrthoDBEOG7SN8CD.
PhylomeDBO60240.
TreeFamTF325901.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_111217. Metabolism.

Gene expression databases

ArrayExpressO60240.
BgeeO60240.
CleanExHS_PLIN.
GenevestigatorO60240.

Family and domain databases

InterProIPR004279. Perilipin.
[Graphical view]
PANTHERPTHR14024. PTHR14024. 1 hit.
PfamPF03036. Perilipin. 1 hit.
[Graphical view]
PIRSFPIRSF036881. PAT. 1 hit.
ProtoNetSearch...

Other

GeneWikiPerilipin.
GenomeRNAi5346.
NextBio20718.
PROO60240.
SOURCESearch...

Entry information

Entry namePLIN1_HUMAN
AccessionPrimary (citable) accession number: O60240
Secondary accession number(s): Q8N5Y6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM