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ANGPTL3 angiopoietin like 3 [ Homo sapiens (human) ]

Gene ID: 27329, updated on 23-Oct-2022

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
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Genomic context

See ANGPTL3 in Genome Data Viewer
Location:
1p31.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62597520..62606313)
110 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_000001.11Genomic 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 Sharpr-MPRA regulatory region 4934

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
Familial hypobetalipoproteinemia 2
MedGen: C1857970 OMIM: 605019 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Preferred Names
angiopoietin-related protein 3
Names
angiopoietin 5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    B2RCW1, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    62476065..62484858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)