ANGPTL3 angiopoietin like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANGPTL3provided by HGNC
Official Full Name: angiopoietin like 3provided by HGNC
Primary source: HGNC:HGNC:491
See related: Ensembl:ENSG00000132855 MIM:604774; AllianceGenome:HGNC:491
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ANL3; ANG-5; FHBL2; ANGPT5
Summary: 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]
Expression: Restricted expression toward liver (RPKM 171.2) See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (62597520..62606313)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (62476065..62484858)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (63063191..63071984)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of a genetic variant in angiopoietin-like 3 with serum HDL-C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years.
Title: Association of a genetic variant in angiopoietin-like 3 with serum HDL-C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years.
ANGPTL3 Downregulation Increases Intracellular Lipids by Reducing Energy Utilization.
Title: ANGPTL3 Downregulation Increases Intracellular Lipids by Reducing Energy Utilization.
ANGPTL3 is a novel HDL component that regulates HDL function.
Title: ANGPTL3 is a novel HDL component that regulates HDL function.
Correlation between the serum FABP4, ANGPTL3, and ANGPTL4 levels and coronary artery disease.
Title: Correlation between the serum FABP4, ANGPTL3, and ANGPTL4 levels and coronary artery disease.
Pre-operative levels of angiopoietin protein-like 3 (ANGPTL3) in women diagnosed with high-grade serous carcinoma of the ovary.
Title: Pre-operative levels of angiopoietin protein-like 3 (ANGPTL3) in women diagnosed with high-grade serous carcinoma of the ovary.
ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism.
Title: ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism.
ANGPTL3 (Angiopoietin-Like 3) Preferentially Resides on High-Density Lipoprotein in the Human Circulation, Affecting Its Activity.
Title: ANGPTL3 (Angiopoietin-Like 3) Preferentially Resides on High-Density Lipoprotein in the Human Circulation, Affecting Its Activity.
ANGPTL3 Deficiency and Risk of Hepatic Steatosis.
Title: ANGPTL3 Deficiency and Risk of Hepatic Steatosis.
Elevated angiopoietin-like protein 3 serum levels in diabetic nephropathy patients and its association with renal function and lipid profile.
Title: Elevated angiopoietin-like protein 3 serum levels in diabetic nephropathy patients and its association with renal function and lipid profile.
Angiopoietin-like 3: An important protein in regulating lipoprotein levels.
Title: Angiopoietin-like 3: An important protein in regulating lipoprotein levels.

Submit: New GeneRIF Correction See all GeneRIFs (121)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial hypobetalipoproteinemia 2 MedGen: C1857970 OMIM: 605019 GeneReviews: Familial Combined Hypolipidemia	Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3572 (e-PCR)
- UniSTS:57672

D3S2407 (e-PCR)
- UniSTS:74573

ANGPTL3_2597 (e-PCR)
- UniSTS:280439

RH46994 (e-PCR)
- UniSTS:80595

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables phospholipase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-matrix adhesion	IPI Inferred from Physical Interaction more info	PubMed
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycerol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid storage	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipoprotein lipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phospholipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hormone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within triglyceride homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in triglyceride homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: angiopoietin-related protein 3

Names: angiopoietin 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028169.1 RefSeqGene

Range

5005..13798

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014495.4 → NP_055310.1 angiopoietin-related protein 3 preproprotein

See identical proteins and their annotated locations for NP_055310.1

Status: REVIEWED

Source sequence(s)

AL138847, BC007059, BC058287

Consensus CDS

CCDS622.1

UniProtKB/Swiss-Prot

A0JLS0, B1ALJ0, B2RCW1, Q9Y5C1

UniProtKB/TrEMBL

A8K061

Related

ENSP00000360170.3, ENST00000371129.4

Conserved Domains (2) summary

cd00087
Location:243 → 453

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

cl25732
Location:84 → 215

SMC_N; RecF/RecN/SMC N terminal domain