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Q9NST1

- PLPL3_HUMAN

UniProt

Q9NST1 - PLPL3_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei42 – 6221Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini63 – 481419LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ9NST1.
CleanExiHS_PNPLA3.
ExpressionAtlasiQ9NST1. baseline and differential.
GenevestigatoriQ9NST1.

Organism-specific databases

HPAiHPA058058.

Interactioni

Protein-protein interaction databases

BioGridi123247. 4 interactions.
IntActiQ9NST1. 2 interactions.
STRINGi9606.ENSP00000216180.

Structurei

3D structure databases

ProteinModelPortaliQ9NST1.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00390000005295.
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

        10         20         30         40         50
MYDAERGWSL SFAGCGFLGF YHVGATRCLS EHAPHLLRDA RMLFGASAGA
60 70 80 90 100
LHCVGVLSGI PLEQTLQVLS DLVRKARSRN IGIFHPSFNL SKFLRQGLCK
110 120 130 140 150
CLPANVHQLI SGKIGISLTR VSDGENVLVS DFRSKDEVVD ALVCSCFIPF
160 170 180 190 200
YSGLIPPSFR GVRYVDGGVS DNVPFIDAKT TITVSPFYGE YDICPKVKST
210 220 230 240 250
NFLHVDITKL SLRLCTGNLY LLSRAFVPPD LKVLGEICLR GYLDAFRFLE
260 270 280 290 300
EKGICNRPQP GLKSSSEGMD PEVAMPSWAN MSLDSSPESA ALAVRLEGDE
310 320 330 340 350
LLDHLRLSIL PWDESILDTL SPRLATALSE EMKDKGGYMS KICNLLPIRI
360 370 380 390 400
MSYVMLPCTL PVESAIAIVQ RLVTWLPDMP DDVLWLQWVT SQVFTRVLMC
410 420 430 440 450
LLPASRSQMP VSSQQASPCT PEQDWPCWTP CSPKGCPAET KAEATPRSIL
460 470 480
RSSLNFFLGN KVPAGAEGLS TFPSFSLEKS L
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 4 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.
GeneTreei ENSGT00390000005295.
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

Bgeei Q9NST1.
CleanExi HS_PNPLA3.
ExpressionAtlasi Q9NST1. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 112 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