Aliases for ANGPTL3 Gene
Aliases for ANGPTL3 Gene
External Ids for ANGPTL3 Gene
- HGNC: 491
- Entrez Gene: 27329
- Ensembl: ENSG00000132855
- OMIM: 604774
- UniProtKB: Q9Y5C1
Previous HGNC Symbols for ANGPTL3 Gene
- ANGPT5
Previous GeneCards Identifiers for ANGPTL3 Gene
- GC01P062998
- GC01P061986
- GC01P062420
- GC01P062433
- GC01P062775
- GC01P061175
Summaries 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 and Lipoprotein metabolism. GO annotations related to this gene include growth factor activity and enzyme inhibitor activity. An important paralog of this gene is ANGPTL4.
UniProtKB/Swiss-Prot for ANGPTL3 Gene
-
Acts in part as a 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANGPTL3 Gene
Genomics for ANGPTL3 Gene
Regulatory Elements for ANGPTL3 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G062621 | 1.3 | Ensembl ENCODE | 12.2 | +24.8 | 24807 | 1.5 | PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 FOS | ANGPTL3 ENSG00000278967 RPL13AP9 |
| GH01G062514 | 0.5 | Ensembl | 11.2 | -82.4 | -82387 | 0.6 | CEBPA HLF CREB1 CEBPB ZNF384 | DOCK7 ANGPTL3 ENSG00000270549 USP1 |
| GH01G062585 | 0.6 | ENCODE | 0.4 | -11.8 | -11752 | 0.8 | TAF1 TEAD4 MAX CHD7 RAD21 YY1 JUND HNF4G HNF4A ZNF652 | DOCK7 ANGPTL3 GC01M062537 |
- Transcription factor binding sites by QIAGEN in the ANGPTL3 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 1p31.3 by Ensembl
- 1p31.3 by Entrez Gene
- 1p31.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ANGPTL3 Gene
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 posLast=115115, Asn296, and posLast=357357
- 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)
-
Custom Antibody ServicesOriGene Antibodies for ANGPTL3
- Novus Biologicals Antibodies for ANGPTL3
-
Cloud-Clone Corp. Antibodies for ANGPTL3
- Invitrogen Antibodies for ANGPTL3
- antibodies-online Antibodies for ANGPTL3: See all 156
- GeneTex ANGPTL3 antibody for ANGPTL3
-
Custom Antibody ServicesProSci Antibodies for ANGPTL3
-
Santa Cruz Biotechnology (SCBT) Antibodies for ANGPTL3
Protein Products
- R&D Systems Proteins and Enzymes for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)
- Enzo Life Sciences proteins for ANGPTL3
-
OriGene Purified Proteins for ANGPTL3
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- Origene Custom Protein Services for ANGPTL3
- ProSpec Recombinant Proteins for ANGPTL3
-
Cloud-Clone Corp. Proteins for ANGPTL3
- antibodies-online Proteins for ANGPTL3: See all 38
- Search antibodies-online for peptides
- GeneTex Proteins for ANGPTL3
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for ANGPTL3
- R&D Systems ELISAs, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)
-
Cloud-Clone Corp Assay Kits for ANGPTL3
- antibodies-online Kits for ANGPTL3: See all 60
No data available for DME Specific Peptides for ANGPTL3 Gene
Domains & Families for ANGPTL3 Gene
Gene Families for ANGPTL3 Gene
Protein Domains for ANGPTL3 Gene
Suggested Antigen Peptide Sequences for ANGPTL3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y5C1UniProtKB/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.
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 a 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004857 | enzyme inhibitor activity | ISS,IEA | -- |
| GO:0004859 | phospholipase inhibitor activity | IDA | 17110602 |
| GO:0005178 | integrin binding | IPI | 11877390 |
| GO:0008083 | growth factor activity | IDA | 11877390 |
| GO:0008201 | heparin binding | IEA | -- |
Phenotypes for ANGPTL3 Gene
- MGI mutant phenotypes for ANGPTL3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ANGPTL3:
Animal Models for ANGPTL3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ANGPTL3
- Cyagen custom Knockout/knockin (KOKI) mouse models for ANGPTL3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ANGPTL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ANGPTL3 gene
- Search ViGene Biosciences for ANGPTL3
CRISPR Products
-
OriGene CRISPR knockouts for ANGPTL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANGPTL3
- GenScript: Design CRISPR guide RNA sequences for ANGPTL3
miRNA for ANGPTL3 Gene
- miRTarBase miRNAs that target ANGPTL3
-
- hsa-mir-3674 (MIRT539274)
- hsa-mir-135b-3p (MIRT539275)
- hsa-mir-7156-3p (MIRT539276)
- hsa-mir-6516-3p (MIRT539277)
- hsa-mir-1206 (MIRT539278)
- hsa-mir-3121-5p (MIRT539279)
- hsa-mir-7845-5p (MIRT539280)
- hsa-mir-4802-3p (MIRT539281)
- hsa-mir-374b-5p (MIRT544175)
- hsa-mir-374a-5p (MIRT544176)
- hsa-mir-633 (MIRT544177)
- hsa-mir-5692c (MIRT544178)
- hsa-mir-5692b (MIRT544179)
- hsa-mir-369-3p (MIRT544180)
- hsa-mir-548l (MIRT544181)
- hsa-mir-8054 (MIRT544182)
- hsa-mir-548k (MIRT544183)
- hsa-mir-548av-5p (MIRT544184)
- hsa-mir-559 (MIRT544185)
- hsa-mir-548y (MIRT544186)
- hsa-mir-548w (MIRT544187)
- hsa-mir-548o-5p (MIRT544188)
- hsa-mir-548i (MIRT544189)
- hsa-mir-548j-5p (MIRT544190)
- hsa-mir-548h-5p (MIRT544191)
- hsa-mir-548d-5p (MIRT544192)
- hsa-mir-548c-5p (MIRT544193)
- hsa-mir-548bb-5p (MIRT544194)
- hsa-mir-548b-5p (MIRT544195)
- hsa-mir-548ay-5p (MIRT544196)
- hsa-mir-548au-5p (MIRT544197)
- hsa-mir-548as-5p (MIRT544198)
- hsa-mir-548ar-5p (MIRT544199)
- hsa-mir-548aq-5p (MIRT544200)
- hsa-mir-548ap-5p (MIRT544201)
- hsa-mir-548am-5p (MIRT544202)
- hsa-mir-548ak (MIRT544203)
- hsa-mir-548ae-5p (MIRT544204)
- hsa-mir-548ad-5p (MIRT544205)
- hsa-mir-548ab (MIRT544206)
- hsa-mir-548a-5p (MIRT544207)
- hsa-mir-670-3p (MIRT560417)
- hsa-mir-4752 (MIRT560419)
- hsa-mir-6833-5p (MIRT560420)
- hsa-mir-644a (MIRT560421)
- hsa-mir-3190-3p (MIRT560422)
- hsa-mir-8053 (MIRT560423)
- hsa-mir-6717-5p (MIRT560424)
- hsa-mir-6077 (MIRT560425)
- hsa-mir-7-5p (MIRT560426)
- hsa-mir-4289 (MIRT560427)
- hsa-mir-145-3p (MIRT560428)
- hsa-mir-4302 (MIRT560429)
- hsa-mir-498 (MIRT689027)
- hsa-mir-6783-3p (MIRT689028)
- hsa-mir-1343-3p (MIRT689029)
- hsa-mir-23b-5p (MIRT689030)
- hsa-mir-23a-5p (MIRT689031)
- hsa-mir-6829-3p (MIRT689032)
- hsa-mir-6791-3p (MIRT689033)
- hsa-mir-4695-3p (MIRT689034)
- hsa-mir-4772-3p (MIRT689035)
- hsa-mir-1281 (MIRT689036)
- hsa-mir-6742-3p (MIRT689037)
- hsa-mir-6852-5p (MIRT689038)
- hsa-mir-939-3p (MIRT689039)
- hsa-mir-660-3p (MIRT689040)
- hsa-mir-4485-5p (MIRT689041)
- hsa-mir-6736-3p (MIRT689042)
- hsa-mir-6890-3p (MIRT689043)
miRNA Products
- Search ViGene Biosciences for ANGPTL3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANGPTL3
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ViGene Biosciences ready-to-package AAV shRNAs for ANGPTL3 gene
Clone Products
-
OriGene ORF clones in human for ANGPTL3
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANGPTL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANGPTL3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ANGPTL3
-
ViGene Biosciences adenoviral particle packaged cDNA for ANGPTL3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ANGPTL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ANGPTL3 gene
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}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IDA | 17110602 |
| GO:0005769 | early endosome | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0009986 | cell surface | IDA | 12565906 |
Pathways & Interactions for ANGPTL3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Integrins in angiogenesis | ||
Pathways by source for ANGPTL3 Gene
1 BioSystems pathway for ANGPTL3 Gene
5 Reactome pathways for ANGPTL3 Gene
Interacting Proteins for ANGPTL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0006071 | glycerol metabolic process | IDA | 12565906 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IDA | 12565906 |
| GO:0006644 | phospholipid metabolic process | IDA | 17110602 |
No data available for SIGNOR curated interactions for ANGPTL3 Gene
Transcripts for ANGPTL3 Gene
mRNA/cDNA for ANGPTL3 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (106) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANGPTL3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANGPTL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANGPTL3
- GenScript: Design CRISPR guide RNA sequences for ANGPTL3
miRNA Products
- Search ViGene Biosciences for ANGPTL3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANGPTL3
- Browse OriGene Inhibitory RNA Products For ANGPTL3
-
ViGene Biosciences ready-to-package AAV shRNAs for ANGPTL3 gene
Clone Products
-
OriGene ORF clones in human for ANGPTL3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ANGPTL3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANGPTL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANGPTL3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression 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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANGPTL3 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANGPTL3 Gene:
ANGPTL3SOURCE GeneReport for Unigene cluster for ANGPTL3 Gene:
Hs.209153mRNA Expression by UniProt/SwissProt for ANGPTL3 Gene:
Q9Y5C1-ANGL3_HUMANEvidence on tissue expression from TISSUES for ANGPTL3 Gene
- Liver(4.9)
- Muscle(4.2)
- Bone marrow(4)
- Kidney(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ANGPTL3 Gene
- mesoderm
- cardiovascular
- ear
- heart
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for ANGPTL3
-
OriGene qPCR primer pairs and template standards for ANGPTL3
Orthologs for ANGPTL3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANGPTL3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ANGPTL3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANGPTL3 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Angptl3 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Angptl3 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANGPTL3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANGPTL3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANGPTL3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ANGPTL3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC496885 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | angptl3 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9678 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7668 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | T15B7.1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for ANGPTL3 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ANGPTL3 Gene
Variants for ANGPTL3 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs200785483 | Pathogenic | 62,597,951(+) | TCCTA(A/G/T)AAGAA | intron-variant, reference, missense, stop-gained | |
| rs398122985 | Pathogenic | 62,604,236(+) | TTCAG(G/T)TATCT | intron-variant, splice-donor-variant | |
| rs398122986 | Pathogenic | 62,597,621(+) | CCAGA(-/A)TTGAT | intron-variant, reference, frameshift-variant | |
| rs398122987 | Pathogenic | 62,598,005(+) | TAACT(-/AACT)TAATT | intron-variant, reference, frameshift-variant | |
| rs398122988 | Pathogenic | 62,597,929(+) | CTCAA(-/CTCAA)AACTT | intron-variant, reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1000988 | CNV | loss | 25217958 |
| nsv1011203 | CNV | loss | 25217958 |
| nsv1014376 | CNV | loss | 25217958 |
Relevant External Links for ANGPTL3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPTL3 Gene
Disorders for ANGPTL3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypobetalipoproteinemia, familial, 2 |
|
|
| hypobetalipoproteinemia |
|
|
| hypolipoproteinemia |
|
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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
No data available for Genatlas for ANGPTL3 Gene
Publications for ANGPTL3 Gene
- Identification of a mammalian angiopoietin-related protein expressed specifically in liver. (PMID: 10644446) Conklin D. … Lewis K.B. (Genomics 1999) 2 3 4 22 64
- 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 4 22 64
- 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 4 22 64
- Angiopoietin-like protein 3 modulates barrier properties of human glomerular endothelial cells through a possible signaling pathway involving phosphatidylinositol-3 kinase/protein kinase B and integrin alphaVbeta3. (PMID: 18535744) Li Y. … Zha X. (Acta Biochim. Biophys. Sin. (Shanghai) 2008) 3 4 22 64
- Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase. (PMID: 17110602) Shimamura M. … Shimomura I. (Arterioscler. Thromb. Vasc. Biol. 2007) 3 4 22 64
Products for ANGPTL3 Gene
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