ANGPTL3

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Angiopoietin-like 3
Identifiers
Symbols ANGPTL3 ; ANG-5; ANGPT5; ANL3; FHBL2
External IDs OMIM604774 MGI1353627 HomoloGene8499 GeneCards: ANGPTL3 Gene
RNA expression pattern
PBB GE ANGPTL3 219803 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27329 30924
Ensembl ENSG00000132855 ENSMUSG00000028553
UniProt Q9Y5C1 Q9R182
RefSeq (mRNA) NM_014495 NM_013913
RefSeq (protein) NP_055310 NP_038941
Location (UCSC) Chr 1:
63.06 – 63.07 Mb
Chr 4:
99.03 – 99.05 Mb
PubMed search [1] [2]

Angiopoietin-like 3, also known as ANGPTL3, is a protein that in humans is encoded by the ANGPTL3 gene.[1][2]

Function[edit]

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 peptide, N-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.[1]

Angptl3 also acts as dual inhibitor of lipoprotein lipase (LPL) and endothelial lipase (EL), and increases plasma triglyceride and HDL cholesterol in rodents. ANGPTL3 inhibit endothelial lipase to catalyze HDL-phospholipid and increase HDL-PL levels. Circulating PL-rich HDL particles have high cholesterol efflux abilities.

Clinical significance[edit]

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").[3]

References[edit]

  1. ^ a b "Entrez Gene: ANGPTL3 angiopoietin-like 3". 
  2. ^ Conklin D, Gilbertson D, Taft DW, Maurer MF, Whitmore TE, Smith DL, Walker KM, Chen LH, Wattler S, Nehls M, Lewis KB (December 1999). "Identification of a mammalian angiopoietin-related protein expressed specifically in liver". Genomics 62 (3): 477–82. doi:10.1006/geno.1999.6041. PMID 10644446. 
  3. ^ Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, et al. (2010). "Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia". New England Journal of Medicine 363 (23): 2220–2227. doi:10.1056/NEJMoa1002926. PMC 3008575. PMID 20942659.  edit

Further reading[edit]