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Q9NST1

- PLPL3_HUMAN

UniProt

Q9NST1 - PLPL3_HUMAN

Protein

Patatin-like phospholipase domain-containing protein 3

Gene

PNPLA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities.1 Publication

    Catalytic activityi

    Triacylglycerol + H2O = diacylglycerol + a carboxylate.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei47 – 471By similarity

    GO - Molecular functioni

    1. diolein transacylation activity Source: UniProtKB
    2. mono-olein transacylation activity Source: UniProtKB
    3. phospholipase A2 activity Source: UniProtKB
    4. triglyceride lipase activity Source: UniProtKB

    GO - Biological processi

    1. acylglycerol acyl-chain remodeling Source: Reactome
    2. glycerophospholipid biosynthetic process Source: Reactome
    3. phospholipid metabolic process Source: Reactome
    4. small molecule metabolic process Source: Reactome
    5. triglyceride biosynthetic process Source: UniProtKB
    6. triglyceride catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Acyltransferase, Hydrolase, Transferase

    Keywords - Biological processi

    Lipid degradation, Lipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_121122. Acyl chain remodeling of DAG and TAG.
    UniPathwayiUPA00256.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Patatin-like phospholipase domain-containing protein 3 (EC:3.1.1.3)
    Alternative name(s):
    Acylglycerol O-acyltransferase (EC:2.3.1.-)
    Adiponutrin
    Calcium-independent phospholipase A2-epsilon
    Short name:
    iPLA2-epsilon
    Gene namesi
    Name:PNPLA3
    Synonyms:ADPN, C22orf20
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:18590. PNPLA3.

    Subcellular locationi

    Membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries.3 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Obesity

    Organism-specific databases

    MIMi613282. phenotype.
    Orphaneti33271. Non-alcoholic fatty liver disease.
    PharmGKBiPA38592.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 481481Patatin-like phospholipase domain-containing protein 3PRO_0000064458Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi89 – 891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi280 – 2801N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9NST1.
    PaxDbiQ9NST1.
    PRIDEiQ9NST1.

    PTM databases

    PhosphoSiteiQ9NST1.

    Expressioni

    Inductioni

    By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level.1 Publication

    Gene expression databases

    ArrayExpressiQ9NST1.
    BgeeiQ9NST1.
    CleanExiHS_PNPLA3.
    GenevestigatoriQ9NST1.

    Organism-specific databases

    HPAiHPA058058.

    Interactioni

    Protein-protein interaction databases

    BioGridi123247. 2 interactions.
    IntActiQ9NST1. 2 interactions.
    STRINGi9606.ENSP00000216180.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NST1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4141CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini63 – 481419LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei42 – 6221Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini10 – 179170PatatinAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi45 – 495GXSXG

    Sequence similaritiesi

    Contains 1 patatin domain.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG261571.
    HOGENOMiHOG000007467.
    HOVERGENiHBG007046.
    InParanoidiQ9NST1.
    KOiK13534.
    OMAiFDAKTTI.
    OrthoDBiEOG7J9VQR.
    PhylomeDBiQ9NST1.
    TreeFamiTF314272.

    Family and domain databases

    InterProiIPR016035. Acyl_Trfase/lysoPLipase.
    IPR002641. Patatin/PLipase_A2-rel.
    [Graphical view]
    PfamiPF01734. Patatin. 1 hit.
    [Graphical view]
    SUPFAMiSSF52151. SSF52151. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NST1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MYDAERGWSL SFAGCGFLGF YHVGATRCLS EHAPHLLRDA RMLFGASAGA    50
    LHCVGVLSGI PLEQTLQVLS DLVRKARSRN IGIFHPSFNL SKFLRQGLCK 100
    CLPANVHQLI SGKIGISLTR VSDGENVLVS DFRSKDEVVD ALVCSCFIPF 150
    YSGLIPPSFR GVRYVDGGVS DNVPFIDAKT TITVSPFYGE YDICPKVKST 200
    NFLHVDITKL SLRLCTGNLY LLSRAFVPPD LKVLGEICLR GYLDAFRFLE 250
    EKGICNRPQP GLKSSSEGMD PEVAMPSWAN MSLDSSPESA ALAVRLEGDE 300
    LLDHLRLSIL PWDESILDTL SPRLATALSE EMKDKGGYMS KICNLLPIRI 350
    MSYVMLPCTL PVESAIAIVQ RLVTWLPDMP DDVLWLQWVT SQVFTRVLMC 400
    LLPASRSQMP VSSQQASPCT PEQDWPCWTP CSPKGCPAET KAEATPRSIL 450
    RSSLNFFLGN KVPAGAEGLS TFPSFSLEKS L 481
    Length:481
    Mass (Da):52,865
    Last modified:March 1, 2002 - v2
    Checksum:i1ED0341B5AF5B6CB
    GO
    Isoform 2 (identifier: Q9NST1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         59-62: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:477
    Mass (Da):52,485
    Checksum:i1E9811016FDC88C1
    GO

    Polymorphismi

    Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991C → G.1 Publication
    Corresponds to variant rs2076213 [ dbSNP | Ensembl ].
    VAR_015845
    Natural varianti115 – 1151G → C.1 Publication
    Corresponds to variant rs2076212 [ dbSNP | Ensembl ].
    VAR_015846
    Natural varianti148 – 1481I → M Common polymorphism; fails to hydrolyze emulsified triglycerides; associated with increased hepatic fat content and serum aspartate aminotransferase concentrations. 6 Publications
    Corresponds to variant rs738409 [ dbSNP | Ensembl ].
    VAR_019961
    Natural varianti216 – 2161T → P.
    Corresponds to variant rs35726887 [ dbSNP | Ensembl ].
    VAR_053814
    Natural varianti434 – 4341K → E.4 Publications
    Corresponds to variant rs2294918 [ dbSNP | Ensembl ].
    VAR_015847
    Natural varianti453 – 4531S → I Common polymorphism; associated with lower hepatic fat content in African Americans. 1 Publication
    Corresponds to variant rs6006460 [ dbSNP | Ensembl ].
    VAR_053815

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei59 – 624Missing in isoform 2. 1 PublicationVSP_036222

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL138578 mRNA. Translation: CAB71238.2.
    CR456476 mRNA. Translation: CAG30362.1.
    AK123806 mRNA. Translation: BAG53962.1.
    AK315166 mRNA. Translation: BAG37610.1.
    AL023654, AL035398 Genomic DNA. Translation: CAI21791.1.
    AL035398, AL023654 Genomic DNA. Translation: CAI22840.1.
    AL023654, AL035398 Genomic DNA. Translation: CAQ07959.1.
    AL035398, AL023654 Genomic DNA. Translation: CAQ09484.1.
    CH471138 Genomic DNA. Translation: EAW73324.1.
    BC014449 mRNA. Translation: AAH14449.2.
    BC065195 mRNA. Translation: AAH65195.1.
    CCDSiCCDS14054.1. [Q9NST1-1]
    RefSeqiNP_079501.2. NM_025225.2. [Q9NST1-1]
    UniGeneiHs.654800.

    Genome annotation databases

    EnsembliENST00000216180; ENSP00000216180; ENSG00000100344. [Q9NST1-1]
    ENST00000423180; ENSP00000397987; ENSG00000100344. [Q9NST1-2]
    GeneIDi80339.
    KEGGihsa:80339.
    UCSCiuc003bei.1. human. [Q9NST1-1]

    Polymorphism databases

    DMDMi32469599.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL138578 mRNA. Translation: CAB71238.2 .
    CR456476 mRNA. Translation: CAG30362.1 .
    AK123806 mRNA. Translation: BAG53962.1 .
    AK315166 mRNA. Translation: BAG37610.1 .
    AL023654 , AL035398 Genomic DNA. Translation: CAI21791.1 .
    AL035398 , AL023654 Genomic DNA. Translation: CAI22840.1 .
    AL023654 , AL035398 Genomic DNA. Translation: CAQ07959.1 .
    AL035398 , AL023654 Genomic DNA. Translation: CAQ09484.1 .
    CH471138 Genomic DNA. Translation: EAW73324.1 .
    BC014449 mRNA. Translation: AAH14449.2 .
    BC065195 mRNA. Translation: AAH65195.1 .
    CCDSi CCDS14054.1. [Q9NST1-1 ]
    RefSeqi NP_079501.2. NM_025225.2. [Q9NST1-1 ]
    UniGenei Hs.654800.

    3D structure databases

    ProteinModelPortali Q9NST1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123247. 2 interactions.
    IntActi Q9NST1. 2 interactions.
    STRINGi 9606.ENSP00000216180.

    PTM databases

    PhosphoSitei Q9NST1.

    Polymorphism databases

    DMDMi 32469599.

    Proteomic databases

    MaxQBi Q9NST1.
    PaxDbi Q9NST1.
    PRIDEi Q9NST1.

    Protocols and materials databases

    DNASUi 80339.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216180 ; ENSP00000216180 ; ENSG00000100344 . [Q9NST1-1 ]
    ENST00000423180 ; ENSP00000397987 ; ENSG00000100344 . [Q9NST1-2 ]
    GeneIDi 80339.
    KEGGi hsa:80339.
    UCSCi uc003bei.1. human. [Q9NST1-1 ]

    Organism-specific databases

    CTDi 80339.
    GeneCardsi GC22P044319.
    H-InvDB HIX0159175.
    HGNCi HGNC:18590. PNPLA3.
    HPAi HPA058058.
    MIMi 609567. gene.
    613282. phenotype.
    neXtProti NX_Q9NST1.
    Orphaneti 33271. Non-alcoholic fatty liver disease.
    PharmGKBi PA38592.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261571.
    HOGENOMi HOG000007467.
    HOVERGENi HBG007046.
    InParanoidi Q9NST1.
    KOi K13534.
    OMAi FDAKTTI.
    OrthoDBi EOG7J9VQR.
    PhylomeDBi Q9NST1.
    TreeFami TF314272.

    Enzyme and pathway databases

    UniPathwayi UPA00256 .
    Reactomei REACT_121122. Acyl chain remodeling of DAG and TAG.

    Miscellaneous databases

    GeneWikii PNPLA3.
    GenomeRNAii 80339.
    NextBioi 70910.
    PROi Q9NST1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NST1.
    Bgeei Q9NST1.
    CleanExi HS_PNPLA3.
    Genevestigatori Q9NST1.

    Family and domain databases

    InterProi IPR016035. Acyl_Trfase/lysoPLipase.
    IPR002641. Patatin/PLipase_A2-rel.
    [Graphical view ]
    Pfami PF01734. Patatin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52151. SSF52151. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
      Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
      Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-434.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS CYS-115; MET-148 AND GLU-434.
      Tissue: Brain and Teratocarcinoma.
    4. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-434.
    6. "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] (ISOFORM 1), VARIANTS GLY-99; MET-148 AND GLU-434.
      Tissue: Brain and Skin.
    7. "Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities."
      Jenkins C.M., Mancuso D.J., Yan W., Sims H.F., Gibson B., Gross R.W.
      J. Biol. Chem. 279:48968-48975(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. Cited for: INDUCTION.
    9. "Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity."
      Johansson L.E., Lindblad U., Larsson C.A., Raastam L., Ridderstraale M.
      Eur. J. Endocrinol. 159:577-583(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MET-148, POLYMORPHISM.
    10. "Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease."
      Romeo S., Kozlitina J., Xing C., Pertsemlidis A., Cox D., Pennacchio L.A., Boerwinkle E., Cohen J.C., Hobbs H.H.
      Nat. Genet. 40:1461-1465(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MET-148 AND ILE-453, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.
    11. Cited for: VARIANT MET-148, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.
    12. "A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis."
      He S., McPhaul C., Li J.Z., Garuti R., Kinch L., Grishin N.V., Cohen J.C., Hobbs H.H.
      J. Biol. Chem. 285:6706-6715(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT MET-148.
    13. "A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity."
      Sookoian S., Castano G.O., Burgueno A.L., Gianotti T.F., Rosselli M.S., Pirola C.J.
      J. Lipid Res. 50:2111-2116(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MET-148, INVOLVEMENT IN SUSCEPTIBILITY TO NAFLD1.

    Entry informationi

    Entry nameiPLPL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NST1
    Secondary accession number(s): B0QYI0
    , B2RCL3, B3KW00, Q6P1A1, Q96CB4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 3, 2003
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 111 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 22
      Human chromosome 22: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3