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Aliases for ANGPTL3 Gene

Aliases for ANGPTL3 Gene

  • Angiopoietin Like 3 2 3 5
  • Angiopoietin-Like 3 2 3
  • Angiopoietin 5 2 3
  • ANGPT5 3 4
  • ANG-5 3 4
  • Angiopoietin-Like Protein 3 4
  • Angiopoietin-5 4
  • FHBL2 3
  • ANL3 3

External Ids for ANGPTL3 Gene

Previous HGNC Symbols for ANGPTL3 Gene

  • ANGPT5

Previous GeneCards Identifiers for ANGPTL3 Gene

  • GC01P062998
  • GC01P061986
  • GC01P062420
  • GC01P062433
  • GC01P062775
  • GC01P061175

Summaries for ANGPTL3 Gene

Entrez Gene Summary for ANGPTL3 Gene

  • This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]

GeneCards Summary for ANGPTL3 Gene

ANGPTL3 (Angiopoietin Like 3) is a Protein Coding gene. Diseases associated with ANGPTL3 include hypobetalipoproteinemia, familial, 2 and hypobetalipoproteinemia. Among its related pathways are Integrins in angiogenesis. GO annotations related to this gene include growth factor activity and enzyme inhibitor activity. An important paralog of this gene is TNC.

UniProtKB/Swiss-Prot for ANGPTL3 Gene

  • Acts in part as an hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity).

  • ANGPTL3(17-221): In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.

  • Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).

Gene Wiki entry for ANGPTL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANGPTL3 Gene

Genomics for ANGPTL3 Gene

Regulatory Elements for ANGPTL3 Gene

Genomic Location for ANGPTL3 Gene

Chromosome:
1
Start:
62,597,487 bp from pter
End:
62,606,305 bp from pter
Size:
8,819 bases
Orientation:
Plus strand

Genomic View for ANGPTL3 Gene

Genes around ANGPTL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANGPTL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANGPTL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANGPTL3 Gene

Proteins for ANGPTL3 Gene

  • Protein details for ANGPTL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5C1-ANGL3_HUMAN
    Recommended name:
    Angiopoietin-related protein 3
    Protein Accession:
    Q9Y5C1
    Secondary Accessions:
    • A0JLS0
    • B1ALJ0
    • B2RCW1

    Protein attributes for ANGPTL3 Gene

    Size:
    460 amino acids
    Molecular mass:
    53637 Da
    Quaternary structure:
    • Interacts with ANGPTL8. Interacts with ITGB3 (By similarity).
    Miscellaneous:
    • Was suggested to inhibit LPL through a direct mechanism; however, the necessary concentration to achieve in vitro inhibition is at least 30-fold higher than ANGPTL3 plasma concentration.
    SequenceCaution:
    • Sequence=AAH07059.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for ANGPTL3 Gene

Proteomics data for ANGPTL3 Gene at MOPED

Post-translational modifications for ANGPTL3 Gene

  • In part proteolytically cleaved by proprotein convertases; proposed to be involved in activation.
  • O-glycosylated at Thr-226 by GALNT2; blocks processing and activation by proprotein convertases.
  • Glycosylation at Asn 115, Asn 296, and Asn 357
  • Modification sites at PhosphoSitePlus

Other Protein References for ANGPTL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)

No data available for DME Specific Peptides for ANGPTL3 Gene

Domains & Families for ANGPTL3 Gene

Gene Families for ANGPTL3 Gene

Suggested Antigen Peptide Sequences for ANGPTL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5C1

UniProtKB/Swiss-Prot:

ANGL3_HUMAN :
  • The fibrinogen C-terminal domain is sufficient to mediate endothelial cell adhesion.
Domain:
  • The fibrinogen C-terminal domain is sufficient to mediate endothelial cell adhesion.
  • Contains 1 fibrinogen C-terminal domain.
genes like me logo Genes that share domains with ANGPTL3: view

Function for ANGPTL3 Gene

Molecular function for ANGPTL3 Gene

GENATLAS Biochemistry:
angiopoietin-like 3,predominantly expressed in the liver
UniProtKB/Swiss-Prot Function:
Acts in part as an hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity).
UniProtKB/Swiss-Prot Function:
ANGPTL3(17-221): In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL.
UniProtKB/Swiss-Prot Function:
Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated by insulin.

Gene Ontology (GO) - Molecular Function for ANGPTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 11877390
genes like me logo Genes that share ontologies with ANGPTL3: view
genes like me logo Genes that share phenotypes with ANGPTL3: view

Human Phenotype Ontology for ANGPTL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANGPTL3 Gene

MGI Knock Outs for ANGPTL3:

Animal Model Products

CRISPR Products

miRNA for ANGPTL3 Gene

miRTarBase miRNAs that target ANGPTL3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANGPTL3 Gene

Localization for ANGPTL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANGPTL3 Gene

Secreted. Cell projection, lamellipodium. Note=Colocalized with HSPG2 and activated ITGB3 on podocytes. {ECO:0000250 UniProtKB:Q9R182}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANGPTL3 Gene COMPARTMENTS Subcellular localization image for ANGPTL3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
endosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ANGPTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IEA,IDA 12565906
genes like me logo Genes that share ontologies with ANGPTL3: view

Pathways & Interactions for ANGPTL3 Gene

SuperPathways for ANGPTL3 Gene

Superpath Contained pathways
1 Integrins in angiogenesis
genes like me logo Genes that share pathways with ANGPTL3: view

Pathways by source for ANGPTL3 Gene

1 BioSystems pathway for ANGPTL3 Gene

Interacting Proteins for ANGPTL3 Gene

Gene Ontology (GO) - Biological Process for ANGPTL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IDA 12565906
GO:0007160 cell-matrix adhesion IPI 11877390
GO:0007165 signal transduction IDA 11877390
GO:0007229 integrin-mediated signaling pathway NAS 11877390
GO:0008203 cholesterol metabolic process IDA 17110602
genes like me logo Genes that share ontologies with ANGPTL3: view

No data available for SIGNOR curated interactions for ANGPTL3 Gene

Drugs & Compounds for ANGPTL3 Gene

(1) Drugs for ANGPTL3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ANGPTL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANGPTL3: view

Transcripts for ANGPTL3 Gene

mRNA/cDNA for ANGPTL3 Gene

Unigene Clusters for ANGPTL3 Gene

Angiopoietin-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANGPTL3 Gene

No ASD Table

Relevant External Links for ANGPTL3 Gene

GeneLoc Exon Structure for
ANGPTL3
ECgene alternative splicing isoforms for
ANGPTL3

Expression for ANGPTL3 Gene

mRNA expression in normal human tissues for ANGPTL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANGPTL3 Gene

This gene is overexpressed in Liver (x50.1).

Protein differential expression in normal tissues from HIPED for ANGPTL3 Gene

This gene is overexpressed in Serum (67.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANGPTL3 Gene



SOURCE GeneReport for Unigene cluster for ANGPTL3 Gene Hs.209153

mRNA Expression by UniProt/SwissProt for ANGPTL3 Gene

Q9Y5C1-ANGL3_HUMAN
Tissue specificity: Expressed principally in liver. Weakly expressed in kidney. Binds to adipocytes. Increased expression and colocalization with activated ITGB3 in glomeruli of patients with nephrotic syndrome showing effaced podocyte foot processes (at protein level).
genes like me logo Genes that share expression patterns with ANGPTL3: view

Protein tissue co-expression partners for ANGPTL3 Gene

Primer Products

In Situ Assay Products

Orthologs for ANGPTL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANGPTL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANGPTL3 35
  • 99.78 (n)
  • 99.57 (a)
ANGPTL3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANGPTL3 36
  • 83 (a)
OneToOne
ANGPTL3 35
  • 88.16 (n)
  • 83.22 (a)
dog
(Canis familiaris)
Mammalia ANGPTL3 35
  • 90.2 (n)
  • 88.02 (a)
ANGPTL3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Angptl3 16
Angptl3 35
  • 80.4 (n)
  • 76.65 (a)
Angptl3 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANGPTL3 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANGPTL3 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Angptl3 35
  • 83.12 (n)
  • 80.13 (a)
chicken
(Gallus gallus)
Aves ANGPTL3 35
  • 64.34 (n)
  • 56.21 (a)
ANGPTL3 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANGPTL3 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496885 35
  • 62.66 (n)
  • 55.23 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9678 35
zebrafish
(Danio rerio)
Actinopterygii angptl3 36
  • 44 (a)
OneToOne
angptl3 35
  • 55.8 (n)
  • 47.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7668 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T15B7.1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for ANGPTL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANGPTL3 Gene

ENSEMBL:
Gene Tree for ANGPTL3 (if available)
TreeFam:
Gene Tree for ANGPTL3 (if available)

Paralogs for ANGPTL3 Gene

Paralogs for ANGPTL3 Gene

(4) SIMAP similar genes for ANGPTL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ANGPTL3: view

Variants for ANGPTL3 Gene

Sequence variations from dbSNP and Humsavar for ANGPTL3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_049071 -
VAR_067283 -
VAR_075670 -
VAR_075671 -
VAR_075672 -

Structural Variations from Database of Genomic Variants (DGV) for ANGPTL3 Gene

Variant ID Type Subtype PubMed ID
nsv870559 CNV Loss 21882294

Variation tolerance for ANGPTL3 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANGPTL3 Gene

HapMap Linkage Disequilibrium report
ANGPTL3
Human Gene Mutation Database (HGMD)
ANGPTL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPTL3 Gene

Disorders for ANGPTL3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ANGPTL3 Gene - From: OMIM, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypobetalipoproteinemia, familial, 2
  • hypobetalipoproteinemia, familial 2
hypobetalipoproteinemia
  • hypo-beta-lipoproteinemia
nephrotic syndrome
  • finnish congenital nephrosis
hypolipoproteinemia
  • hypolipoproteinaemia
chylomicron retention disease
  • anderson disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANGL3_HUMAN
  • 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:0000269 PubMed:20942659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=May be involved in atherosclerosis. Plasma levels are closely associated with arterial wall thickness. {ECO:0000305 PubMed:17191020}.
  • Note=May be involved in nephrotic syndrome. {ECO:0000305 PubMed:25710887}.

Relevant External Links for ANGPTL3

Genetic Association Database (GAD)
ANGPTL3
Human Genome Epidemiology (HuGE) Navigator
ANGPTL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANGPTL3
genes like me logo Genes that share disorders with ANGPTL3: view

No data available for Genatlas for ANGPTL3 Gene

Publications for ANGPTL3 Gene

  1. Identification of a mammalian angiopoietin-related protein expressed specifically in liver. (PMID: 10644446) Conklin D. … Lewis K.B. (Genomics 1999) 2 3 4 23 67
  2. Angiopoietin-like protein 3 and adiponectin levels in patients with metabolic syndrome. (PMID: 20360639) Guo W. … Zhou Z. (Zhong Nan Da Xue Xue Bao Yi Xue Ban 2010) 3 23
  3. The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms. (PMID: 19028676) Shan L. … Liu Q. (J. Biol. Chem. 2009) 3 23
  4. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. (PMID: 19075393) Romeo S. … Cohen J.C. (J. Clin. Invest. 2009) 3 23
  5. Plasma angiopoietin-like protein 3 (ANGPTL3) concentration is associated with uremic dyslipidemia. (PMID: 19540497) Shoji T. … Nishizawa Y. (Atherosclerosis 2009) 3 23

Products for ANGPTL3 Gene

Sources for ANGPTL3 Gene

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