ANGPTL3

 Angiopoietin-like 3, also known as ANGPTL3, is a protein that in humans is encoded by the ANGPTL3 gene.[5][6]

ANGPTL3
Identifiers
AliasesANGPTL3, ANG-5, ANGPT5, ANL3, FHBL2, angiopoietin like 3
External IDsOMIM604774 MGI1353627 HomoloGene8499 GeneCardsANGPTL3
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ANGPTL3
Genomic location for ANGPTL3
Band1p31.3Start62,597,520 bp[1]
End62,606,313 bp[1]
RNA expression pattern
PBB GE ANGPTL3 219803 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014495

NM_013913

RefSeq (protein)

NP_055310

NP_038941

Location (UCSC)Chr 1: 62.6 – 62.61 MbChr 4: 99.03 – 99.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FunctionEdit

The protein encoded by this gene is a member of the angiopoietin-like family of secreted factors. It is expressed predominantly in the liver, and has the characteristic structure of angiopoietins, consisting of a signal peptideN-terminal coiled-coil domain, and the C-terminal fibrinogen (FBN)-like domain. The FBN-like domain in angiopoietin-like 3 protein was shown to bind alpha-5/beta-3 integrins, and this binding induced endothelial cell adhesion and migration. This protein may also play a role in the regulation of angiogenesis.[5]

Angptl3 also acts as dual inhibitor of lipoprotein lipase (LPL) and endothelial lipase (EL),[7] thereby increasing plasma triglyceride, LDL cholesterol and HDL cholesterol in mice and humans.[7]

ANGPTL3 inhibits endothelial lipase hydrolysis of HDL-phospholipid (PL), thereby increasing HDL-PL levels.[citation needed] Circulating PL-rich HDL particles have high cholesterol efflux abilities.[citation needed]

Angptl3 plays a major role in promoting uptake of circulating triglycerides into white adipose tissue in the fed state,[8] likely through activation by Angptl8, a feeding-induced hepatokine,[9][10] to inhibit postprandial LPL activity in cardiac and skeletal muscles,[11] as suggested by the ANGPTL3-4-8 model.[12]

Clinical significanceEdit

In human, ANGPTL3 is a determinant factor of HDL level and positively correlates with plasma HDL cholesterol.

In humans with genetic loss-of-function variants in one copy of ANGPTL3, the serum LDL-C levels are reduced. In those with loss-of-function variants in both copies of ANGPTL3, low LDL-C, low HDL-C, and low triglycerides are seen ("familial combined hypolipidemia").[13]

This article uses material from the Wikipedia article
 Metasyntactic variable, which is released under the 
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Attribution-ShareAlike 3.0 Unported License
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