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APOA5 Gene

protein-coding   GIFtS: 58
GCID: GC11M116660

Apolipoprotein A-V

  See APOA5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apolipoprotein A-V1 2     APOAV2
Apolipoprotein A52 3     apo-AV2
Regeneration-Associated Protein 32 3     Apo-AV3
RAP32 3     ApoA-V3

External Ids:    HGNC: 172881   Entrez Gene: 1165192   Ensembl: ENSG000001102437   OMIM: 6063685   UniProtKB: Q6Q7883   

Export aliases for APOA5 gene to outside databases

Previous GC identifers: GC11M119012 GC11M118172 GC11M116693 GC11M116197 GC11M116165 GC11M112592


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperlipoproteinemia type iii, and hyperlipoproteinemia type v. GO annotations related to this gene include phospholipid binding and heparin binding.

UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788
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

Gene Wiki entry for APOA5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOA5 gene promoter:
         PPAR-alpha   PPAR-gamma1   HNF-4alpha2   PPAR-gamma2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOA5 promoter sequence
   Search Chromatin IP Primers for APOA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23

APOA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOA5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M116660:  view genomic region     (about GC identifiers)

Start:
116,660,083 bp from pter      End:
116,663,136 bp from pter
Size:
3,054 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788 (See protein sequence)
Recommended Name: Apolipoprotein A-V precursor  
Size: 366 amino acids; 41213 Da
Subunit: Interacts with GPIHBP1
Miscellaneous: Induced in early phase of liver regeneration
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAF25661.1; Type=Erroneous initiation; Sequence=AAF25662.1; Type=Erroneous initiation;
Sequence=AAQ89109.1; Type=Erroneous termination; Positions=275; Note=Translated as Gln;
Secondary accessions: B0YIV9 Q3MIK6 Q6UWK9 Q9UBJ3

Explore the universe of human proteins at neXtProt for APOA5: NX_Q6Q788

Explore proteomics data for APOA5 at MOPED

Post-translational modifications: 

  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Ser80
  • Modification sites at PhosphoSitePlus

  • See APOA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001160070.1  NP_443200.2  

    ENSEMBL proteins: 
     ENSP00000227665   ENSP00000399701   ENSP00000445002  
    Reactome Protein details: Q6Q788

    APOA5 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    1 InterPro protein domain:
     IPR000074 ApoA1_A4_E

    Graphical View of Domain Structure for InterPro Entry Q6Q788

    ProtoNet protein and cluster: Q6Q788

    UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788
    Similarity: Belongs to the apolipoprotein A1/A4/E family


    Find genes that share domains with APOA5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOA5_HUMAN, Q6Q788
    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
    Induction: Up-regulated by PPARA agonists, which are used clinically to lower serum TG (such as fibrates)

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IDA12810715
    GO:0008047enzyme activator activity IDA16806135
    GO:0008201contributes to heparin binding IDA17326667
    GO:0008289lipid binding IDA12810715
         
    Find genes that share ontologies with APOA5           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Apoa5):
     homeostasis/metabolism  normal 

    Find genes that share phenotypes with APOA5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APOA5: Apoa5tm1Lap Apoa5tm1Hgc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOA5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOA5
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    miRNA
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    hsa-miR-485-5p hsa-miR-186* hsa-miR-518a-5p hsa-miR-205* hsa-miR-3175 hsa-miR-4299 hsa-miR-138-2* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidAPOA5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat APOA5

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APOA5_HUMAN, Q6Q788: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA18635818
    GO:0034361very-low-density lipoprotein particle IDA15528295
    GO:0034362NOT low-density lipoprotein particle IDA15528295
    GO:0034364high-density lipoprotein particle IDA15528295

    Find genes that share ontologies with APOA5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APOA5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    3Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5PPAR signaling pathway
    PPAR signaling pathway


    Find genes that share SuperPaths with APOA5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for APOA5
        Ca, cAMP and Lipid Signaling

    1 BioSystems Pathway for APOA5
        Statin Pathway

    2 Reactome Pathways for APOA5
        PPARA activates gene expression
    Chylomicron-mediated lipid transport

    1 PharmGKB Pathway for APOA5
        Statin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for APOA5):
        PPAR signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA5: 
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for APOA5 (ENSP000002276654) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1ENSP000002368504STRING: ENSP00000236850
    APOA2ENSP000003569694STRING: ENSP00000356969
    APOA4ENSP000003504254STRING: ENSP00000350425
    APOBENSP000002332424STRING: ENSP00000233242
    APOC2ENSP000002524904STRING: ENSP00000252490
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IMP12417525
    GO:0006869lipid transport IDA15178420
    GO:0009725response to hormone IEA--
    GO:0010898positive regulation of triglyceride catabolic process IDA18635818
    GO:0010902positive regulation of very-low-density lipoprotein particle remodeling IDA18635818

    Find genes that share ontologies with APOA5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APOA5

    Selected HMDB Compounds for APOA5 (see all 1075)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
    PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----
    PC(14:0/18:1(9Z))1-myristoyl-2-oleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:2(9Z,12Z))Phosphatidylcholine(32:2) (see all 14)----
    PC(14:0/18:3(6Z,9Z,12Z))GPCho(14:0/18:3w6) (see all 15)----

    9 Novoseek inferred chemical compound relationships for APOA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 66 42 19343127 (4), 19150068 (3), 18946207 (2), 16386723 (2) (see all 21)
    lipid 63.3 75 18450648 (7), 17957227 (2), 18652480 (2), 15649902 (2) (see all 39)
    fenofibrate 56.7 8 17431185 (3), 19056598 (2), 12637506 (1), 19344899 (1)
    triacylglycerol 50.3 26 19056598 (3), 15447887 (2), 17401142 (2), 18603531 (1) (see all 9)
    dimyristoylphosphatidylcholine 47.5 4 15878877 (1), 17326667 (1), 12810715 (1)
    fatty acid 26 2 16531749 (1)
    glucose 16.8 14 12697303 (2), 17705673 (2), 19018513 (2), 19303979 (1) (see all 6)
    cysteine 0 2 16046221 (1), 16510431 (1)
    heparin 0 4 17326667 (2), 15878877 (1)

    3 PharmGKB related drug/compound annotations for APOA5 gene    About this table
    Drug/compound PharmGKB Annotation
    atorvastatinCA  
    lovastatinCA  
    simvastatinCA  



    Find genes that share compounds with APOA5           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for APOA5 gene (2 alternative transcripts): 
    NM_001166598.1  NM_052968.4  

    Unigene Cluster for APOA5:

    Apolipoprotein A-V
    Hs.283923  [show with all ESTs]
    Unigene Representative Sequence: NM_052968
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000227665 ENST00000433069 ENST00000542499(uc001ppr.3 uc009yzf.3 uc009yzg.3)

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    hsa-miR-485-5p hsa-miR-186* hsa-miR-518a-5p hsa-miR-205* hsa-miR-3175 hsa-miR-4299 hsa-miR-138-2* hsa-miR-450b-5p
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    Primer
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    Additional mRNA sequence: 

    AF202889.1 AF202890.1 AK292739.1 AK308047.1 AK315229.1 AY358749.1 BC101787.1 BC101789.1 

    2 DOTS entries:

    DT.91692476  DT.120749905 

    Selected AceView cDNA sequences (see all 288):

    AI650327 BM703850 BF056026 BC017380 BQ649554 BQ649624 CR622469 BM917066 
    CR594434 BM450633 BQ670096 BM928675 BQ718326 BU623976 AW006230 BQ641510 
    CR590018 BE746720 BQ651494 BM695880 CB148717 BM910418 BU189482 CD359945 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APOA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCAGTCCT
    APOA5 Expression
    About this image

    APOA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283923

    UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788
    Tissue specificity: Liver and plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA5: 
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for APOA5 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoa51 , 5 apolipoprotein A-V1, 5 78.4(n)1
    74.86(a)1
      9 (25.37 cM)5
    661131  NM_080434.31  NP_536682.21 
     462686335 
    chicken
    (Gallus gallus)
    Aves APOA51 apolipoprotein A-V 59.71(n)
    45(a)
      419802  XM_004948075.1  XP_004948132.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia apoa51 apolipoprotein A5 49.05(n)
    39.7(a)
      100144664  NM_001123432.1  NP_001116904.1 


    ENSEMBL Gene Tree for APOA5 (if available)
    TreeFam Gene Tree for APOA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for APOA5 (see all 169)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178211,2
    Cpathogenic1116525208(-) TGGAGC/TAGGTG 4 Q * stg10--------
    rs20752911,2,,4
    C,F,Hother1116525070(-) ACACCG/TGCCGC 4 G C mis1 ese313Minor allele frequency- T:0.01NS EA NA EU 6547
    rs31355061,2,,4
    C,Fother1116526085(+) TGGCCG/CAAAAC 4 /S /W mis113Minor allele frequency- C:0.13NA NS EA WA EU 5467
    rs1913498941,2
    --116523281(+) TCCACA/GTCCTC 2 -- ds50010--------
    rs1383696471,2
    --116523369(+) GAGTCC/TGGCAT 2 -- ds50010--------
    rs1494402581,2
    C--116523373(+) CCGGCA/GTAAAA 2 -- ds50010--------
    rs1149620521,2
    F--116523383(+) AAGAGG/TCCATT 2 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1463911621,2
    --116523579(+) ACAGCC/TGTTGT 2 -- ds50010--------
    rs1384520851,2
    --116523679(+) ATGGAA/GTGGGT 2 -- ds50010--------
    rs1429581461,2
    C--116523686(+) GGGTGA/GTGGGT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for APOA5 (116660083 - 116663136 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APOA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507CNV Loss18451855

    Human Gene Mutation Database (HGMD): APOA5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOA5
    DNA2.0 Custom Variant and Variant Library Synthesis for APOA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606368   
    OMIM disorders: 145750  144650  
    UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788
  • 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). Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 6 diseases for APOA5:    
    About MalaCards
    hyperlipoproteinemia type iii    hyperlipoproteinemia type v    hypertriglyceridemia    artery disease
    familial hyperlipidemia    coronary artery disease

    2 diseases from the University of Copenhagen DISEASES database for APOA5:
    Coronary heart disease     Familial hyperlipidemia

    Find genes that share disorders with APOA5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for APOA5 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertriglyceridemia 86.4 58 15591215 (4), 17919884 (3), 16238453 (3), 16125709 (3) (see all 28)
    hypertriglyceridemias familial 74.8 6 16531747 (1), 17483372 (1), 16861622 (1)
    hyperlipidemia familial combined 72.9 6 15774484 (1), 16680034 (1), 14551155 (1), 17157483 (1)
    endogenous hypertriglyceridemia 70.9 4 16200213 (2), 19447388 (1), 15591215 (1)
    dyslipidemia 64.7 6 17700364 (1), 14959997 (1), 16680034 (1), 18658049 (1) (see all 5)
    hyperlipoproteinemia type iii 59.5 2 16143024 (1)
    cardiovascular diseases 50.8 9 15447887 (1), 12637506 (1), 15342688 (1), 15877284 (1) (see all 7)
    coronary artery disease 48.1 20 16769999 (2), 19185864 (2), 15306190 (2), 19159622 (2) (see all 12)
    coronary heart disease 47 7 14729863 (2), 20452521 (1), 15877284 (1), 17356049 (1) (see all 5)
    atherosclerosis 32.8 2 18579034 (1), 17635078 (1)

    Genetic Association Database (GAD): APOA5
    Human Genome Epidemiology (HuGE) Navigator: APOA5 (205 documents)

    Export disorders for APOA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APOA5 gene, integrated from 10 sources (see all 377):
    (articles sorted by number of sources associating them with APOA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. (PubMed id 12417524)1, 2, 4, 9 Pennacchio L.A....Cohen J.C. (Hum. Mol. Genet. 2002)
    2. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. (PubMed id 11588264)1, 2, 3, 9 Pennacchio L.A.... Rubin E.M. (Science 2001)
    3. A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. (PubMed id 12915450)1, 2, 4, 9 Kao J.-T.... Lin S.-W. (Hum. Mol. Genet. 2003)
    4. Apolipoprotein A-V. A novel apolipoprotein associated with an early phase of liver regeneration. (PubMed id 11577099)1, 2, 3 van Der Vliet H.N.... Chamuleau R.A.F.M. (J. Biol. Chem. 2001)
    5. Determinants of plasma apolipoprotein A-V and APOA5 gene transcripts in humans. (PubMed id 18537870)1, 4, 9 Hahne P....Patsch W. (J. Intern. Med. 2008)
    6. Structure and interfacial properties of human apolipoprotein A-V. (PubMed id 12810715)1, 2, 9 Weinberg R.B.... Ryan R.O. (J. Biol. Chem. 2003)
    7. The novel apolipoprotein A5 is present in human serum, is associated with VLDL, HDL, and chylomicrons, and circulates at very low concentrations compared with other apolipoproteins. (PubMed id 15528295)1, 2, 9 O'Brien P.J.... Konrad R.J. (Clin. Chem. 2005)
    8. The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels: prospective risk of type 2 diabetes. Results from the Northwick Park Heart Study II. (PubMed id 16917759)1, 4, 9 Talmud P.J....Humphries S.E. (Diabetologia 2006)
    9. Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia. (PubMed id 17157483)1, 4, 9 van der Vleuten G.M....de Graaf J. (Biochim. Biophys. Acta 2007)
    10. Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. (PubMed id 17032446)1, 4, 9 Chandak G.R....Hattersley A.T. (BMC Med. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 116519 HGNC: 17288 AceView: ZNF259andAPOA5 Ensembl:ENSG00000110243 euGenes: HUgn116519
    ECgene: APOA5 Kegg: 116519 H-InvDB: APOA5

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APOA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOA5 gene:
    Search GeneIP for patents involving APOA5

    Licensable Technologies for APOA5 gene:
     Tufts University:  Genetic Polymorphisms Related to Polyunsaturated Fatty Acid (PUFA) Intake
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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