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Aliases for APOA5 Gene

Aliases for APOA5 Gene

  • Apolipoprotein A-V 2 3
  • Regeneration-Associated Protein 3 3 4
  • Apolipoprotein A5 3 4
  • Apo-AV 3 4
  • RAP3 3 4
  • ApoA-V 4
  • APOAV 3

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 A-V) is a Protein Coding gene. Diseases associated with APOA5 include hypertriglyceridemia and hyperchylomicronemia, late-onset. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phospholipid binding and heparin binding.

UniProtKB/Swiss-Prot 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 a 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.

Gene Wiki entry for APOA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOA5 Gene

Genomics for APOA5 Gene

Regulatory Elements for APOA5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for APOA5 Gene

Start:
116,789,367 bp from pter
End:
116,792,420 bp from pter
Size:
3,054 bases
Orientation:
Minus strand

Genomic View for APOA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APOA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOA5 Gene

Proteins for APOA5 Gene

  • 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.
    Miscellaneous:
    • Induced in early phase of liver regeneration
    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; Positions=275; Note=Translated as Gln.; Evidence={ECO:0000305};

neXtProt entry for APOA5 Gene

Proteomics data for APOA5 Gene at MOPED

Post-translational modifications for APOA5 Gene

Other Protein References for APOA5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for APOA5 (APOA5)

No data available for DME Specific Peptides for APOA5 Gene

Domains for APOA5 Gene

Gene Families for APOA5 Gene

HGNC:

Protein Domains for APOA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q6Q788

UniProtKB/Swiss-Prot:

APOA5_HUMAN :
  • Q6Q788
Family:
  • Belongs to the apolipoprotein A1/A4/E family.
genes like me logo Genes that share domains with APOA5: view

Function for APOA5 Gene

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 a 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.
UniProtKB/Swiss-Prot Induction: Up-regulated by PPARA agonists, which are used clinically to lower serum TG (such as fibrates).

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 --
genes like me logo Genes that share ontologies with APOA5: view

Phenotypes for APOA5 Gene

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

Animal Models for APOA5 Gene

MGI Knock Outs for APOA5:

Animal Model Products

CRISPR Products

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

Localization for APOA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOA5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOA5 Gene COMPARTMENTS Subcellular localization image for APOA5 gene
Compartment Confidence
extracellular 5
lysosome 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:0034361 very-low-density lipoprotein particle IDA 15528295
GO:0034362 NOT low-density lipoprotein particle IDA 15528295
GO:0034364 high-density lipoprotein particle IDA 15528295
genes like me logo Genes that share ontologies with APOA5: view

Pathways for APOA5 Gene

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

Pathways by source for APOA5 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for APOA5 Gene

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 --
GO:0006869 lipid transport IDA 15178420
GO:0009725 response to hormone IEA --
GO:0010873 positive regulation of cholesterol esterification IBA --
genes like me logo Genes that share ontologies with APOA5: view

Compounds for APOA5 Gene

(1075) HMDB Compounds for APOA5 Gene

Compound Synonyms Cas Number PubMed IDs
PC(14:0/14:0)
  • Phosphatidylcholine(14:0/14:0)
Not Available
PC(14:0/14:1(9Z))
  • Phosphatidylcholine(14:0/14:1)
Not Available
PC(14:0/15:0)
  • GPCho(14:0/15:0)
Not Available
PC(14:0/16:0)
  • GPCho(30:0)
Not Available
PC(14:0/16:1(9Z))
  • 1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine
Not Available

(9) Novoseek inferred chemical compound relationships for APOA5 Gene

Compound -log(P) Hits PubMed IDs
cholesterol 66 30
lipid 63.3 52
fenofibrate 56.7 7
triacylglycerol 50.3 13
dimyristoylphosphatidylcholine 47.5 3

(3) PharmGKB related drug/compound annotations for APOA5 Gene

Drug/compound Annotation
atorvastatin CA
lovastatin CA
simvastatin CA
genes like me logo Genes that share compounds with APOA5: view

Transcripts for APOA5 Gene

Unigene Clusters for APOA5 Gene

Apolipoprotein A-V:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APOA5

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for APOA5 Gene

GeneLoc Exon Structure for
APOA5
ECgene alternative splicing isoforms for
APOA5

Expression for APOA5 Gene

mRNA expression in normal human tissues for APOA5 Gene

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

This gene is overexpressed in Liver (52.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for APOA5 Gene

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.
genes like me logo Genes that share expressions with APOA5: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for APOA5 Gene

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 35
  • 99.18 (n)
  • 99.18 (a)
APOA5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APOA5 35
  • 84.94 (n)
  • 78.24 (a)
APOA5 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOA5 35
  • 83.29 (n)
  • 77.13 (a)
APOA5 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apoa5 35
  • 78.4 (n)
  • 74.86 (a)
Apoa5 16
Apoa5 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APOA5 36
  • 36 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoa5 35
  • 76.84 (n)
  • 73.45 (a)
chicken
(Gallus gallus)
Aves APOA5 35
  • 59.71 (n)
  • 45 (a)
APOA5 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apoa5 35
  • 49.05 (n)
  • 39.7 (a)
Species with no ortholog for APOA5:
  • 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)
  • 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 squirt (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)

Paralogs for APOA5 Gene

No data available for Paralogs for APOA5 Gene

Variants for APOA5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOA5 Gene

Q6Q788-APOA5_HUMAN
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 from dbSNP and Humsavar for APOA5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs619054 -- 116,790,097(-) CAGCT(C/T)CTTGT utr-variant-3-prime
rs648450 -- 116,792,069(+) CCTCA(A/G)ACATG intron-variant, upstream-variant-2KB
rs651821 -- 116,791,863(+) CATTA(C/T)CTGCT utr-variant-5-prime
rs662799 -- 116,792,991(+) AAAGT(A/G)AGATT upstream-variant-2KB
rs1729411 -- 116,792,959(-) GAGTC(C/T)CTGGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv507 CNV Loss 18451855

Relevant External Links for APOA5 Gene

HapMap Linkage Disequilibrium report
APOA5
Human Gene Mutation Database (HGMD)
APOA5

Disorders for APOA5 Gene

(2) OMIM Diseases for APOA5 Gene (606368)

UniProtKB/Swiss-Prot

APOA5_HUMAN
  • Hypertriglyceridemia, familial (FHTR) [MIM:145750]: A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hyperlipoproteinemia 5 (HLPP5) [MIM:144650]: Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A). {ECO:0000269 PubMed:16200213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for APOA5 Gene

(15) Novoseek inferred disease relationships for APOA5 Gene

Disease -log(P) Hits PubMed IDs
hypertriglyceridemia 86.4 42
hypertriglyceridemias familial 74.8 3
hyperlipidemia familial combined 72.9 4
endogenous hypertriglyceridemia 70.9 4
dyslipidemia 64.7 5

Relevant External Links for APOA5

Genetic Association Database (GAD)
APOA5
Human Genome Epidemiology (HuGE) Navigator
APOA5
genes like me logo Genes that share disorders with APOA5: view

Publications for APOA5 Gene

  1. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. (PMID: 11588264) Pennacchio L.A. … Rubin E.M. (Science 2001) 2 3 4 23
  2. Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. (PMID: 12417524) Pennacchio L.A. … Cohen J.C. (Hum. Mol. Genet. 2002) 3 4 23 48
  3. A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. (PMID: 12915450) Kao J.-T. … Lin S.-W. (Hum. Mol. Genet. 2003) 3 4 23 48
  4. The single nucleotide polymorphism -1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia. (PMID: 12937897) Evans D. … Beil F.U. (J. Mol. Med. 2003) 3 23 48
  5. The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. (PMID: 12951359) Lai C.Q. … Ordovas J.M. (J. Lipid Res. 2003) 3 23 48

Products for APOA5 Gene

Sources for APOA5 Gene

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