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ANGPTL3 angiopoietin like 3 [ Homo sapiens (human) ]

Gene ID: 27329, updated on 13-Jan-2020

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
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

Genomic context

See ANGPTL3 in Genome Data Viewer
Location:
1p31.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (62597520..62606313)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63063158..63071976)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378768 Neighboring gene ubiquitin specific peptidase 1 Neighboring gene dedicator of cytokinesis 7 Neighboring gene ribosomal protein L13a pseudogene 9 Neighboring gene autophagy related 4C cysteine peptidase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypobetalipoproteinemia, familial, 2
MedGen: C1857970 OMIM: 605019 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
phospholipase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acylglycerol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-matrix adhesion IPI
Inferred from Physical Interaction
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycerol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
lipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
lipid storage IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
triglyceride homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
angiopoietin-related protein 3
Names
angiopoietin 5

NCBI Reference Sequences (RefSeq)

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

  1. NG_028169.1 RefSeqGene

    Range
    5005..13798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014495.4NP_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
    Q9Y5C1
    Related
    ENSP00000360170.3, ENST00000371129.4
    Conserved Domains (2) summary
    cd00087
    Location:243453
    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:84215
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    62597520..62606313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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