O60240 (PLIN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Perilipin-1

Alternative name(s):
Lipid droplet-associated protein

Gene names

Name:	PLIN1
Synonyms:	PERI, PLIN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	522 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Subunit structure	Interacts with ABHD5 By similarity.
Subcellular location	Lipid droplet By similarity. Note: Lipid droplet surface-associated By similarity.
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	Familial partial lipodystrophy 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 process	Lipid metabolism
Cellular component	Lipid droplet
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	small molecule metabolic process Traceable author statement. Source: Reactome triglyceride catabolic process Traceable author statement. Source: Reactome
Cellular_component	lipid particle Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	lipid binding Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 522	522	Perilipin-1		PRO_0000099884
Regions
	Compositional bias	307 – 316	10	Poly-Glu
Amino acid modifications
	Modified residue	408	1	Phosphoserine By similarity
Natural variations
	Natural variant	194	1	P → A. Ref.1 Ref.3 Corresponds to variant rs6496589 [ dbSNP | Ensembl ].		VAR_055046
	Natural variant	210	1	K → E. Ref.3 Corresponds to variant rs17852910 [ dbSNP | Ensembl ].		VAR_055047
	Natural variant	271	1	A → V. Corresponds to variant rs58361219 [ dbSNP | Ensembl ].		VAR_061505
	Natural variant	348	1	S → L. Corresponds to variant rs8179071 [ dbSNP | Ensembl ].		VAR_055048
Experimental info
	Sequence conflict	510	1	L → V in BAA25420. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O60240 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 394FC14388EB5DCC	FASTA	522	55,990
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00028444.
RefSeq	NP_001138783.1. NM_001145311.1. NP_002657.3. NM_002666.4.
UniGene	Hs.103253.
3D structure databases
ProteinModelPortal	O60240.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000300055.
PTM databases
PhosphoSite	O60240.
Proteomic databases
PaxDb	O60240.
PRIDE	O60240.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300055; ENSP00000300055; ENSG00000166819. ENST00000430628; ENSP00000402167; ENSG00000166819.
GeneID	5346.
KEGG	hsa:5346.
UCSC	uc002boh.2. human.
Organism-specific databases
CTD	5346.
GeneCards	GC15M090208.
H-InvDB	HIX0202172.
HGNC	HGNC:9076. PLIN1.
HPA	CAB033821. CAB037333. HPA024299.
MIM	170290. gene. 613877. phenotype.
neXtProt	NX_O60240.
Orphanet	280356. Familial partial lipodystrophy associated with PLIN1 mutations.
PharmGKB	PA33409.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG75006.
HOGENOM	HOG000261608.
InParanoid	O60240.
KO	K08768.
OMA	DSFFRPS.
OrthoDB	EOG483D4G.
PhylomeDB	O60240.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology. REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O60240.
Bgee	O60240.
CleanEx	HS_PLIN.
Genevestigator	O60240.
GermOnline	ENSG00000166819. Homo sapiens.
Family and domain databases
InterPro	IPR004279. Perilipin. [Graphical view]
PANTHER	PTHR14024. PTHR14024. 1 hit.
Pfam	PF03036. Perilipin. 1 hit. [Graphical view]
PIRSF	PIRSF036881. PAT. 1 hit.
ProtoNet	Search...
Other
BindingDB	O60240.
ChEMBL	CHEMBL1741164.
GenomeRNAi	5346.
NextBio	20718.
SOURCE	Search...

Entry information

Entry name

PLIN1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.