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O60240

- PLIN1_HUMAN

UniProt

O60240 - PLIN1_HUMAN

Protein

Perilipin-1

Gene

PLIN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. lipid binding Source: UniProtKB

    GO - Biological processi

    1. lipid metabolic process Source: UniProtKB
    2. small molecule metabolic process Source: Reactome
    3. triglyceride catabolic process Source: Reactome

    Keywords - Biological processi

    Lipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_27161. Transcriptional regulation of white adipocyte differentiation.
    REACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Perilipin-1
    Alternative name(s):
    Lipid droplet-associated protein
    Gene namesi
    Name:PLIN1
    Synonyms:PERI, PLIN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:9076. PLIN1.

    Subcellular locationi

    Endoplasmic reticulum 1 Publication. Lipid droplet 1 Publication
    Note: Lipid droplet surface-associated.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB-SubCell
    2. lipid particle Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Lipid droplet

    Pathology & Biotechi

    Involvement in diseasei

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

    Organism-specific databases

    MIMi613877. phenotype.
    Orphaneti280356. Familial partial lipodystrophy associated with PLIN1 mutations.
    PharmGKBiPA33409.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 522522Perilipin-1PRO_0000099884Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei408 – 4081PhosphoserineBy similarity

    Post-translational modificationi

    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.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO60240.
    PRIDEiO60240.

    PTM databases

    PhosphoSiteiO60240.

    Expressioni

    Tissue specificityi

    Adipocytes.1 Publication

    Gene expression databases

    ArrayExpressiO60240.
    BgeeiO60240.
    CleanExiHS_PLIN.
    GenevestigatoriO60240.

    Organism-specific databases

    HPAiCAB033821.
    CAB037333.
    HPA024299.

    Interactioni

    Subunit structurei

    Interacts with ABHD5 By similarity. Interacts with CIDEC.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi111361. 1 interaction.
    STRINGi9606.ENSP00000300055.

    Structurei

    3D structure databases

    ProteinModelPortaliO60240.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni291 – 31929Required for interaction with CIDECBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi307 – 31610Poly-Glu

    Sequence similaritiesi

    Belongs to the perilipin family.Curated

    Phylogenomic databases

    eggNOGiNOG75006.
    HOGENOMiHOG000261608.
    InParanoidiO60240.
    KOiK08768.
    OMAiASVCNAY.
    OrthoDBiEOG7SN8CD.
    PhylomeDBiO60240.
    TreeFamiTF325901.

    Family and domain databases

    InterProiIPR004279. Perilipin.
    [Graphical view]
    PANTHERiPTHR14024. PTHR14024. 1 hit.
    PfamiPF03036. Perilipin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF036881. PAT. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    O60240-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVNKGLTLL DGDLPEQENV LQRVLQLPVV SGTCECFQKT YTSTKEAHPL    50
    VASVCNAYEK GVQSASSLAA WSMEPVVRRL STQFTAANEL ACRGLDHLEE 100
    KIPALQYPPE KIASELKDTI STRLRSARNS ISVPIASTSD KVLGAALAGC 150
    ELAWGVARDT AEFAANTRAG RLASGGADLA LGSIEKVVEY LLPPDKEESA 200
    PAPGHQQAQK SPKAKPSLLS RVGALTNTLS RYTVQTMARA LEQGHTVAMW 250
    IPGVVPLSSL AQWGASVAMQ AVSRRRSEVR VPWLHSLAAA QEEDHEDQTD 300
    TEGEDTEEEE ELETEENKFS EVAALPGPRG LLGGVAHTLQ KTLQTTISAV 350
    TWAPAAVLGM AGRVLHLTPA PAVSSTKGRA MSLSDALKGV TDNVVDTVVH 400
    YVPLPRLSLM EPESEFRDID NPPAEVERRE AERRASGAPS AGPEPAPRLA 450
    QPRRSLRSAQ SPGAPPGPGL EDEVATPAAP RPGFPAVPRE KPKRRVSDSF 500
    FRPSVMEPIL GRTHYSQLRK KS 522
    Length:522
    Mass (Da):55,990
    Last modified:May 5, 2009 - v2
    Checksum:i394FC14388EB5DCC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti510 – 5101L → V in BAA25420. (PubMed:9521880)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti194 – 1941P → A.2 Publications
    Corresponds to variant rs6496589 [ dbSNP | Ensembl ].
    VAR_055046
    Natural varianti210 – 2101K → E.1 Publication
    Corresponds to variant rs17852910 [ dbSNP | Ensembl ].
    VAR_055047
    Natural varianti271 – 2711A → V.
    Corresponds to variant rs58361219 [ dbSNP | Ensembl ].
    VAR_061505
    Natural varianti348 – 3481S → L.
    Corresponds to variant rs8179071 [ dbSNP | Ensembl ].
    VAR_055048

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005293 mRNA. Translation: BAA25420.1.
    AC013787 Genomic DNA. No translation available.
    BC031084 mRNA. Translation: AAH31084.1.
    CCDSiCCDS10353.1.
    RefSeqiNP_001138783.1. NM_001145311.1.
    NP_002657.3. NM_002666.4.
    XP_005254991.1. XM_005254934.2.
    UniGeneiHs.103253.

    Genome annotation databases

    EnsembliENST00000300055; ENSP00000300055; ENSG00000166819.
    ENST00000430628; ENSP00000402167; ENSG00000166819.
    GeneIDi5346.
    KEGGihsa:5346.
    UCSCiuc002boh.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Fat, wonderful fat - Issue 10 of May 2001

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005293 mRNA. Translation: BAA25420.1 .
    AC013787 Genomic DNA. No translation available.
    BC031084 mRNA. Translation: AAH31084.1 .
    CCDSi CCDS10353.1.
    RefSeqi NP_001138783.1. NM_001145311.1.
    NP_002657.3. NM_002666.4.
    XP_005254991.1. XM_005254934.2.
    UniGenei Hs.103253.

    3D structure databases

    ProteinModelPortali O60240.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111361. 1 interaction.
    STRINGi 9606.ENSP00000300055.

    Chemistry

    BindingDBi O60240.
    ChEMBLi CHEMBL1741164.

    PTM databases

    PhosphoSitei O60240.

    Proteomic databases

    PaxDbi O60240.
    PRIDEi O60240.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300055 ; ENSP00000300055 ; ENSG00000166819 .
    ENST00000430628 ; ENSP00000402167 ; ENSG00000166819 .
    GeneIDi 5346.
    KEGGi hsa:5346.
    UCSCi uc002boh.2. human.

    Organism-specific databases

    CTDi 5346.
    GeneCardsi GC15M090208.
    H-InvDB HIX0202172.
    HGNCi HGNC:9076. PLIN1.
    HPAi CAB033821.
    CAB037333.
    HPA024299.
    MIMi 170290. gene.
    613877. phenotype.
    neXtProti NX_O60240.
    Orphaneti 280356. Familial partial lipodystrophy associated with PLIN1 mutations.
    PharmGKBi PA33409.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG75006.
    HOGENOMi HOG000261608.
    InParanoidi O60240.
    KOi K08768.
    OMAi ASVCNAY.
    OrthoDBi EOG7SN8CD.
    PhylomeDBi O60240.
    TreeFami TF325901.

    Enzyme and pathway databases

    Reactomei REACT_27161. Transcriptional regulation of white adipocyte differentiation.
    REACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

    Miscellaneous databases

    GeneWikii Perilipin.
    GenomeRNAii 5346.
    NextBioi 20718.
    PROi O60240.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60240.
    Bgeei O60240.
    CleanExi HS_PLIN.
    Genevestigatori O60240.

    Family and domain databases

    InterProi IPR004279. Perilipin.
    [Graphical view ]
    PANTHERi PTHR14024. PTHR14024. 1 hit.
    Pfami PF03036. Perilipin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF036881. PAT. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. 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.

    Entry informationi

    Entry nameiPLIN1_HUMAN
    AccessioniPrimary (citable) accession number: O60240
    Secondary accession number(s): Q8N5Y6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3