APOA5 Gene (Protein Coding)

Apolipoprotein A5

GC11M116789
GIFtS:
44
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemi... See more...

Aliases for APOA5 Gene

Aliases for APOA5 Gene

  • Apolipoprotein A5 2 3 4 5
  • Apolipoprotein A-V 2 3 4
  • RAP3 2 3 4
  • Regeneration-Associated Protein 3 3 4
  • Apo-AV 3 4
  • Apolipoprotein A-V Precursor Variant 3 3
  • APOA-V 2
  • ApoA-V 4
  • APOAV 3
  • APOA5 5

External Ids for APOA5 Gene

Previous GeneCards Identifiers for APOA5 Gene

  • GC11M119012
  • GC11M118172
  • GC11M116693
  • GC11M116197
  • GC11M116165
  • GC11M116660
  • GC11M112592

Summaries for APOA5 Gene

Entrez Gene Summary for APOA5 Gene

  • The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

GeneCards Summary for APOA5 Gene

APOA5 (Apolipoprotein A5) is a Protein Coding gene. Diseases associated with APOA5 include Hyperlipoproteinemia, Type V and Hypertriglyceridemia, Familial. Among its related pathways are Lipoprotein metabolism and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and heparin binding. An important paralog of this gene is APOA4.

UniProtKB/Swiss-Prot Summary for APOA5 Gene

  • Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667).

Gene Wiki entry for APOA5 Gene

Additional gene information for APOA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOA5 Gene

Genomics for APOA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for APOA5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOA5

Top Transcription factor binding sites by QIAGEN in the APOA5 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for APOA5 Gene

Genomic Locations for APOA5 Gene
chr11:116,789,367-116,792,420
(GRCh38/hg38)
Size:
3,054 bases
Orientation:
Minus strand
chr11:116,660,083-116,663,136
(GRCh37/hg19)
Size:
3,054 bases
Orientation:
Minus strand

Genomic View for APOA5 Gene

Genes around APOA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOA5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for APOA5 Gene

Proteins for APOA5 Gene

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  • Protein details for APOA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Q788-APOA5_HUMAN
    Recommended name:
    Apolipoprotein A-V
    Protein Accession:
    Q6Q788
    Secondary Accessions:
    • B0YIV9
    • Q3MIK6
    • Q6UWK9
    • Q9UBJ3

    Protein attributes for APOA5 Gene

    Size:
    366 amino acids
    Molecular mass:
    41213 Da
    Quaternary structure:
    • Interacts with GPIHBP1 (PubMed:17997385). Interacts with SORL1; this interaction leads to APOA5 internalization and sorting either to lysosomes and degradation, or to the trans-Golgi network (PubMed:17326667, PubMed:18603531).
    SequenceCaution:
    • Sequence=AAF25661.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF25662.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ89109.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Induced in early phase of liver regeneration.

neXtProt entry for APOA5 Gene

Protein Expression for APOA5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for APOA5 Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Ser80
  • Modification sites at PhosphoSitePlus

Other Protein References for APOA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOA5 Gene

Domains & Families for APOA5 Gene

Gene Families for APOA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for APOA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOA5 Gene

GenScript: Design optimal peptide antigens:
  • Regeneration-associated protein 3 (APOA5_HUMAN)
  • cDNA, FLJ96227, Homo sapiens apolipoprotein A-V (APOA5), mRNA (B0YIW1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6Q788

UniProtKB/Swiss-Prot:

APOA5_HUMAN :
  • Belongs to the apolipoprotein A1/A4/E family.
Family:
  • Belongs to the apolipoprotein A1/A4/E family.
genes like me logo Genes that share domains with APOA5: view

Function for APOA5 Gene

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Molecular function for APOA5 Gene

UniProtKB/Swiss-Prot Function:
Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667).
UniProtKB/Swiss-Prot Induction:
Up-regulated by PPARA agonists, which are used clinically to lower serum TG (such as fibrates).

Phenotypes From GWAS Catalog for APOA5 Gene

Gene Ontology (GO) - Molecular Function for APOA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IDA 12810715
GO:0008047 enzyme activator activity IDA 16806135
GO:0008201 heparin binding IDA 15878877
GO:0008289 lipid binding IDA 12810715
GO:0015485 cholesterol binding IBA 21873635
genes like me logo Genes that share ontologies with APOA5: view
genes like me logo Genes that share phenotypes with APOA5: view

Human Phenotype Ontology for APOA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOA5 Gene

MGI Knock Outs for APOA5:

Animal Model Products

  • Taconic Biosciences Mouse Models for APOA5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APOA5 Gene

Localization for APOA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOA5 Gene

Secreted. Early endosome. Late endosome. Golgi apparatus, trans-Golgi network. Note=In the presence of SORL1, internalized to early endosomes, sorted in a retrograde fashion to late endosomes, from which a portion is sent to lysosomes and degradation, another portion is sorted to the trans-Golgi network. {ECO:0000269 PubMed:18603531}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOA5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
endosome 3
plasma membrane 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for APOA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 18635818
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
genes like me logo Genes that share ontologies with APOA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOA5 Gene

Pathways & Interactions for APOA5 Gene

genes like me logo Genes that share pathways with APOA5: view

Pathways by source for APOA5 Gene

2 BioSystems pathways for APOA5 Gene
1 PharmGKB pathway for APOA5 Gene
1 KEGG pathway for APOA5 Gene
1 Cell Signaling Technology pathway for APOA5 Gene

SIGNOR curated interactions for APOA5 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for APOA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006641 triglyceride metabolic process IMP 12417525
GO:0006695 cholesterol biosynthetic process IBA 21873635
GO:0006869 lipid transport IDA 15178420
GO:0010873 positive regulation of cholesterol esterification IBA 21873635
GO:0010898 positive regulation of triglyceride catabolic process IDA 18635818
genes like me logo Genes that share ontologies with APOA5: view

Drugs & Compounds for APOA5 Gene

Products:

  1. Drug

(7) Drugs for APOA5 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenofibrate Approved Pharma PPARalpha agonist 185
Atorvastatin Approved Pharma Inhibitor, Competitive 893
Lovastatin Approved, Investigational Pharma Inhibitor, Competitive, Agonist, Full agonist HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 82
Simvastatin Approved Pharma Inhibitor, Competitive HMG-CoA reductase inhibitor 582

(10) Additional Compounds for APOA5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
 68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
 88542-95-4
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-g-linolenoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(6Z,9Z,12Z-octadecatrienoyl)-glycerol
  • TAG(14:0/15:0/18:3)
  • TAG(47:3)
  • TG(14:0/15:0/18:3)
 555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group D
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
 620-64-4
genes like me logo Genes that share compounds with APOA5: view

Transcripts for APOA5 Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for APOA5 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA5

Alternative Splicing Database (ASD) splice patterns (SP) for APOA5 Gene

No ASD Table

Relevant External Links for APOA5 Gene

GeneLoc Exon Structure for
APOA5

Expression for APOA5 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOA5 Gene

mRNA expression in normal human tissues for APOA5 Gene
mRNA expression by GTEx for APOA5 GenemRNA expression by BioGPS for APOA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)
  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for APOA5 Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for APOA5 Gene

This gene is overexpressed in Serum (51.6), Plasma (8.6), and Placenta (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOA5 Gene



Protein tissue co-expression partners for APOA5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOA5

SOURCE GeneReport for Unigene cluster for APOA5 Gene:

Hs.283923

mRNA Expression by UniProt/SwissProt for APOA5 Gene:

Q6Q788-APOA5_HUMAN
Tissue specificity: Liver and plasma.

Evidence on tissue expression from TISSUES for APOA5 Gene

  • Liver(4.7)
  • Pancreas(3.2)
  • Intestine(3)
  • Adrenal gland(3)
  • Blood(2.7)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOA5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with APOA5: view

Orthologs for APOA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia APOA5 30 31
  • 99.18 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia APOA5 30 31
  • 84.94 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia APOA5 30 31
  • 83.29 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Apoa5 30 17 31
  • 78.4 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Apoa5 30
  • 76.84 (n)
Oppossum
(Monodelphis domestica)
 Mammalia APOA5 31
  • 36 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves APOA5 30 31
  • 59.71 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia apoa5 30
  • 49.05 (n)
Species where no ortholog for APOA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for APOA5 Gene

ENSEMBL:
Gene Tree for APOA5 (if available)
TreeFam:
Gene Tree for APOA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOA5: view image

Paralogs for APOA5 Gene

Paralogs for APOA5 Gene

genes like me logo Genes that share paralogs with APOA5: view

Variants for APOA5 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for APOA5 Gene

APOA5_HUMAN-Q6Q788
Three common alleles are known: allele APOA5*1, APOA5*2 and APOA5*3. The APOA5*2 haplotype, which consists of 3 non-coding SNPs, is present in approximately 16% of Caucasians and is associated with increased plasma triglyceride concentrations. APOA5*3 haplotype is defined by the rare Ser-19-Trp substitution. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25 to 50% of African Americans, Hispanics, and Caucasians.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOA5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
684818 Uncertain Significance: not provided 116,790,931(-) ACTC/A INFRAME_DELETION
724485 Likely Benign: not provided 116,790,284(-) C/T SYNONYMOUS_VARIANT
733372 Likely Benign: not provided 116,791,705(-) G/GA INTRON_VARIANT
779436 Benign: not provided 116,791,064(-) G/C SYNONYMOUS_VARIANT
rs1057522953 Uncertain Significance: not provided 116,791,629(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for APOA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for APOA5 Gene

Variant ID Type Subtype PubMed ID
nsv507 CNV deletion 18451855

Variation tolerance for APOA5 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOA5 Gene

Human Gene Mutation Database (HGMD)
APOA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOA5

SNP Genotyping and Copy Number Assay Products

Disorders for APOA5 Gene