InnateDB Protein
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IDBP-99369.5
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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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ANGPTL3
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Protein Name
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angiopoietin-like 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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ENSP00000360170
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InnateDB Gene
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IDBG-99367 (ANGPTL3)
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Protein Structure
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Function |
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Subcellular Localization |
Secreted {ECO:0000250}.
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Disease Associations |
Hypobetalipoproteinemia, familial, 2 (FHBL2) [MIM:605019]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides. {ECO:0000269PubMed:20942659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed principally in liver. Weakly expressed in kidney. {ECO:0000269PubMed:10644446}.
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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 |
1
[view]
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Protein-DNA |
1
[view]
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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 |
IPR002181
Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
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PFAM |
PF00147
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PRINTS |
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PIRSF |
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SMART |
SM00186
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y5C1
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PhosphoSite |
PhosphoSite-Q9Y5C1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
27329
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UniGene |
Hs.736217
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RefSeq |
NP_055310
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HUGO |
HGNC:491
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OMIM |
604774
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CCDS |
CCDS622
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HPRD |
10381
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IMGT |
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EMBL |
AF152562
AK315304
AY358273
AY569015
BC007059
BC058287
CH471059
FJ515851
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GenPept |
AAD34156
AAH07059
AAH58287
AAQ88640
AAS66984
ACS13743
BAG37708
EAX06583
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