InnateDB Protein
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IDBP-10821.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PNPLA3
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Protein Name
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patatin-like phospholipase domain containing 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000216180
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InnateDB Gene
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IDBG-10819 (PNPLA3)
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Protein Structure
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Function |
Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities. {ECO:0000269PubMed:15364929}.
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Subcellular Localization |
Membrane {ECO:0000269PubMed:15364929}; Single-pass type II membrane protein {ECO:0000269PubMed:15364929}.
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Disease Associations |
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. {ECO:0000269PubMed:18820647, ECO:0000269PubMed:19224197, ECO:0000269PubMed:19738004}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002641
Patatin/Phospholipase A2-related
IPR016035
Acyl transferase/acyl hydrolase/lysophospholipase
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PFAM |
PF01734
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NST1
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PhosphoSite |
PhosphoSite-Q9NST1
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TrEMBL |
U3N901
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UniProt Splice Variant |
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Entrez Gene |
80339
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UniGene |
Hs.654800
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RefSeq |
NP_079501
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HUGO |
HGNC:18590
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OMIM |
609567
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CCDS |
CCDS14054
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HPRD |
12430
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IMGT |
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EMBL |
AK123806
AK315166
AL023654
AL035398
AL138578
BC014449
BC065195
CH471138
CR456476
KF581133
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GenPept |
AAH14449
AAH65195
AGW25377
BAG37610
BAG53962
CAB71238
CAG30362
CAI21791
CAI22840
CAQ07959
CAQ09484
EAW73324
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