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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APOA5 Gene

protein-coding   GIFtS: 59
GCID: GC11M116660

Apolipoprotein A-V

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hyperlipoproteinemia type iii, and among its related super-pathways are Statin Pathway and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include phospholipid binding and heparin binding. An important paralog of this gene is APOA1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for APOA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted
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:

  • UniProtKB: Phosphorylation sites are present in the extracellular medium
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6Q788

  • APOA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APOA5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001160070.1  NP_443200.2  

    ENSEMBL proteins: 
     ENSP00000227665   ENSP00000399701   ENSP00000445002  
    Reactome Protein details: Q6Q788
    Human Recombinant Protein Products for APOA5: 
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    Novus Biologicals APOA5 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for APOA5
    Cloud-Clone Corp. Proteins for APOA5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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

    APOA5 for ontologies           About GeneDecksing



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

    2 InterPro protein domains:
     IPR000074 ApoA1_A4_E
     IPR013326 ApoA

    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


    APOA5 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17997385
    GO:0005543phospholipid binding IDA12810715
    GO:0008047enzyme activator activity IDA16806135
    GO:0008201contributes to heparin binding IDA17326667
    GO:0008289lipid binding IDA12810715
         
    APOA5 for ontologies           About GeneDecksing


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

    APOA5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APOA5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APOA5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOA5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOA5 

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    SwitchGear 3'UTR luciferase reporter plasmidAPOA5 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APOA5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4PPAR signaling pathway
    PPAR signaling pathway
    5"Ca, cAMP and Lipid Signaling"
    "Ca, cAMP and Lipid Signaling"

    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

    5        Reactome Pathways for APOA5
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Metabolism
    PPARA Activates Gene Expression
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins

    1 PharmGKB Pathway for APOA5
        Statin Pathway, Pharmacodynamics

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


    APOA5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APOA5

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

    5/20 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
    APOC3ENSP000002276674STRING: ENSP00000227667
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

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

    APOA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APOA5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APOA5

    10/1075 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)

    Search CenterWatch for drugs/clinical trials and news about APOA5

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/288 AceView cDNA sequences (see all 288):

    BU623976 BQ897942 BU728594 AI417937 BQ641510 BQ671401 BQ641496 BQ674372 
    CD359945 BF056026 BC017380 BC004256 AI650327 CB148717 BM982523 BU502732 
    BM917066 AW006230 AI475000 CR626297 BC017349 NM_052968 BQ649624 BQ945398 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APOA5 expression in normal human tissues (normalized intensities)      APOA5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCAGTCCT
    APOA5 Expression
    About this image


    APOA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; endothelial cells   
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Endothelium (Cardiovascular System)
             colon ; endothelial cells   
     
     Placenta (Extraembryonic Tissues)
             placenta ; trophoblastic cells   

    See APOA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APOA5

    SOURCE GeneReport for Unigene cluster: Hs.283923

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including APOA5: 
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOA5

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for APOA5 gene from 4/8 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 77.9(n)1
    74.09(a)1
      9 (25.37 cM)5
    661131  NM_080434.31  NP_536682.21 
     462686335 
    chicken
    (Gallus gallus)
    Aves APOA51 apolipoprotein A-V 59.17(n)
    44.09(a)
      419802  XM_417939.3  XP_417939.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    18(a)
    possible ortholog
    GL343816.1(166777-173207)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1941316
    apoa46
    (see all 4)
    apolipoprotein A-IV
    (see all 4)
    21(a)
    20(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    16(26186489-26187831)
    16(26153363-26162762)


    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
    Paralogs for APOA5 gene
    APOA12  APOA42  

    APOA5 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: APOA5_HUMAN, Q6Q788
    Polymorphism: 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


    10/169 SNPs in APOA5 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/30 diseases for APOA5 (see all 30):    About MalaCards
    hypertriglyceridemia    hyperlipoproteinemia type iii    hyperlipoproteinemia type v    glycogen storage disease type 1a
    familial hyperlipidemia    familial hypertriglyceridemia    familial combined hyperlipidemia    coronary heart disease
    familial hypercholesterolemia    alcohol abuse    glycogen storage disease    patent ductus arteriosus
    cerebral infarction    gigantism    lipodystrophy    hypercholesterolemia
    atherosclerosis    myocardial infarction    acute myocardial infarction    diabetes mellitus

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

    APOA5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/15 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)
    About This Section

    PubMed articles for APOA5 gene, integrated from 9 sources (see all 367):
    (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. (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. (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. (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. (2001)
    5. Determinants of plasma apolipoprotein A-V and APOA5 gene transcripts in humans. (PubMed id 18537870)1, 4, 9 Hahne P....Patsch W. (2008)
    6. Structure and interfacial properties of human apolipoprotein A-V. (PubMed id 12810715)1, 2, 9 Weinberg R.B.... Ryan R.O. (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. (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. (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. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 116519 HGNC: 17288 AceView: ZNF259andAPOA5 Ensembl:ENSG00000110243 euGenes: HUgn116519
    ECgene: APOA5 Kegg: 116519 H-InvDB: APOA5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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