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APOA1 Gene

protein-coding   GIFtS: 70

GC11M112638
apolipoprotein A-I
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
apolipoprotein A-I1 2     apoA-I2
OTTHUMP000000693472     ApoA-I3
MGC1173992     Apo-AI3
apo-AI2     Apolipoprotein A13

External Ids:    HGNC: 6001   Entrez Gene: 3352   Ensembl: ENSG000001181377   UniProtKB: P026473   

Export aliases for APOA1 gene to outside databases

Previous GC identifers: GC11M119059 GC11M118218 GC11M116740 GC11M116244 GC11M116211 GC11M116706


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

Entrez Gene summary for APOA1:
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma.
The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin
cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene
is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL
deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. (provided by RefSeq)

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
Function: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting
cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As
part of the SPAP complex, activates spermatozoa motility

Gene Wiki entry for APOA1 (Apolipoprotein A1)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APOA1 gene promoter:
         NF-kappaB1   HNF-4alpha2   NF-kappaB   C/EBPalpha   COUP-TF1   Sp1   PPAR-gamma1   PPAR-gamma2   GATA-6   HSF1 (long)   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for APOA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for APOA1 


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

Entrez Gene cytogenetic band: 11q23-q24   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23-q24

APOA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOA1 gene location

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M112638:  view genomic region     (about GC identifiers)

Start:
112,638,728 bp from pter
End:
112,640,597 bp from pter
Size:
1,870 bases
Orientation:
minus strand

1 alternative location:
Chr11- 116,706,467-116,708,666     
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647 (See protein sequence)
Recommended Name: Apolipoprotein A-I precursor  
Size: 267 amino acids; 30778 Da
Subunit: Interacts with APOA1BP and CLU. Component of a sperm activating protein complex (SPAP), consisting of APOA1,
an immunoglobulin heavy chain, an immunoglobulin light chain and albumin
Subcellular location: Secreted
PDB structures from and Proteopedia :
1AV1 (3D)    1GW3 (3D)    1GW4 (3D)    1ODP (3D)    1ODQ (3D)    1ODR (3D)    2A01 (3D)    3K2S (3D)    
Secondary accessions: A8K866 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8

Explore the universe of human proteins at neXtProt for APOA1: NX_P02647 

Post-translational modifications:

  • Palmitoylated1
  • Phosphorylation sites are present in the extracelllular medium1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000030.1  

    ENSEMBL proteins: 
    ENSP00000352471 ENSP00000364478 ENSP00000236850 ENSP00000364472 ENSP00000364469 


    Human Recombinant Proteins 
    Millipore Purified and/or Recombinant APOA1 Protein
    Sigma-Aldrich Proteins for APOA1
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: APOA1
    OriGene Protein Over-expression Lysate: APOA1
    GenScript Custom Purified and Recombinant Proteins Services for APOA1 
    Novus Biologicals Proteins for APOA1
    Novus Biologicals Lysates for APOA1
    Sino Biological Recombinant Protein for APOA1
    ProSpec Recombinant Protein for APOA1

    5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region TAS--
    GO:0005615 extracellular space IDA--
    GO:0005788 endoplasmic reticulum lumen TAS--
    GO:0005886 plasma membrane TAS--
    GO:0030139 endocytic vesicle IDA14747463
    About this table

    APOA1 for ontologies           About GeneDecksing



    Antibodies for APOA1: 
    Millipore Mono- and Polyclonal Antibodies for the study of APOA1
    Sigma-Aldrich Antibodies for APOA1
    R&D Systems Antibodies for APOA1 (Apolipoprotein A-I/ApoA1)
    Cell Signaling Technology (CST) Antibodies for APOA1 
    OriGene Antibodies (see all 2): APOA1
    GenScript Custom Superior Antibodies Services for APOA1 
    Novus Biologicals Antibodies for APOA1
    Epitomics antibodies for APOA1

    Assays for APOA1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APOA1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for APOA1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    APOA1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013326 ApoA/E_ApoLp
     IPR000074 ApoA1_A4_E

    Graphical View of Domain Structure for InterPro Entry P02647

    ProtoNet protein and cluster: P02647

    1 Blocks protein family: IPB000074 Apolipoprotein A1/A4/E

    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
    Similarity: Belongs to the apolipoprotein A1/A4/E family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
    Function: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting
    cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As
    part of the SPAP complex, activates spermatozoa motility

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for APOA1
    Sigma-Aldrich shRNA for APOA1
    OriGene 29mer shRNA kits in GFP-retroviral vector: APOA1
    OriGene shRNA RFP: APOA1
    OriGene basic RS shRNA: APOA1
    OriGene siRNA: APOA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APOA1 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APOA1 
    Search SABiosciences for Assays for microRNAs that regulate APOA1

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: APOA1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APOA1
    OriGene untagged cDNA clones in CMV expression vector: APOA1
    OriGene 3'-UTR clone: APOA1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: APOA1 
    Sino Biological Human cDNA Clone for APOA1

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for APOA1 

    Genatlas biochemistry entry for APOA1:
    apolipoprotein A-I (see HDLA@),major protein of HDL,involved in the reverse transport of cholesterol from tissues to
    liver

    5/15 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 15):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540 beta-amyloid binding IDA11297421
    GO:0005319 lipid transporter activity IEA--
    GO:0005515 protein binding IPI11991719
    GO:0005543 phospholipid binding IDA12810715
    GO:0008034 lipoprotein binding ----
    About this table

    APOA1 for ontologies           About GeneDecksing

    Animal Models: 8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Apoa1):

    cardiovascular systemcellularendocrine/exocrine glandhematopoietic systemhomeostasis/metabolism
    immune systemliver/biliary systemskin/coat/nails

    APOA1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    APOA1 for pathways           About GeneDecksing

    1 Millipore Pathway for APOA1
        Selected targets of HNF1

    4 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  APOA1
        LXR/RXR Activation
    FXR/RXR Activation
    Acute Phase Response Signaling
    PPARα/RXRα Activation

    1 Kegg Pathway  (Kegg details for APOA1):
        hsa03320 PPAR signaling pathway

        SABiosciences Pathway-Focused PCR Arrays including APOA1 (see all 3): PAHS-038A PAHS-057A  

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for APOA1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APOA1

    5/48 Interacting proteins for APOA1 (ENSP000003644693 P026471, 2) via UniProtKB, MINT, and/or STRING (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671EBI-701692,EBI-77613
    HPP007382MINT-7258829 MINT-7258811 MINT-7258868
    TNFRSF10CO147982MINT-63077
    TOMM20Q153882MINT-64236
    SLC12A4ENSP000003185573STRING: ENSP00000318557
    About this table

    5/40 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 40):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932 regulation of protein phosphorylation IEA--
    GO:0001935 endothelial cell proliferation IEA--
    GO:0002576 platelet degranulation TAS--
    GO:0002740 negative regulation of cytokine secretion involved in immune response IDA12458630
    GO:0006629 lipid metabolic process TAS--
    About this table

    APOA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    APOA1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APOA1
    10/121 Novoseek chemical compound relationships for APOA1 gene (see all 121)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 94.6 4787 8969186 (8), 8375418 (7), 10355509 (7), 10587456 (6) (see all 99)
    lipid 88.8 968 10194351 (9), 18831538 (7), 10828078 (7), 18776170 (6) (see all 99)
    phospholipid 77.1 294 8969186 (6), 8431489 (5), 18252847 (4), 18778096 (4) (see all 99)
    cholesterol ester 75.1 39 8473509 (2), 9565601 (2), 8376576 (2), 8375458 (1) (see all 28)
    torcetrapib 72.2 8 15761191 (2), 19103817 (1), 18480348 (1), 19080729 (1) (see all 5)
    phosphatidylcholine 70.9 164 11320081 (4), 9162746 (4), 8509716 (3), 9610765 (3) (see all 85)
    fibrinogen 69.4 159 9869165 (6), 10546412 (3), 14706967 (3), 9987089 (3) (see all 99)
    p-opc 68.9 42 8509716 (4), 15379564 (4), 9831630 (3), 9048564 (2) (see all 20)
    gemfibrozil 66.5 40 8900208 (6), 9514936 (4), 8696946 (4), 9507986 (3) (see all 20)
    simvastatin 65.8 67 11464446 (5), 18540024 (4), 14640465 (4), 18270459 (2) (see all 28)
    About this table

    1 PharmGKB drug compound relationship for APOA1 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    testosteronePD  12270762
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for APOA1
    Sigma-Aldrich shRNA for APOA1
    OriGene 29mer shRNA kits in GFP-retroviral vector: APOA1
    OriGene shRNA RFP: APOA1
    OriGene basic RS shRNA: APOA1
    OriGene siRNA: APOA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APOA1 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APOA1 
    Search SABiosciences for Assays for microRNAs that regulate APOA1
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: APOA1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APOA1
    OriGene untagged cDNA clones in CMV expression vector: APOA1
    OriGene 3'-UTR Clone: APOA1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: APOA1 
    Primers: OriGene genome-wide validated SYBR primer pairs: APOA1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for APOA1: PPH02633A

    REFSEQ mRNAs for APOA1 gene: 

    NM_000039.1  

    Additional cDNA sequence: 

    AK292231.1 BC005380.1 BC110286.1 CR594974.1 CR602459.1 CR603689.1 CR604796.1 CR606088.1 
    CR611719.1 CR614893.1 CR616175.1 CR622099.1 CR623518.1 CR625742.1 M11791.1 M27875.1 
    M29068.1 X00566.1 X02162.1 

    24/26 DOTS entries (see all 26):

    DT.451322  DT.100845340  DT.100845344  DT.100845342  DT.95370881  DT.95370744  DT.120733334  DT.92457181 
    DT.100845347  DT.92457177  DT.92457184  DT.100845345  DT.100845337  DT.87013866  DT.100845346  DT.102823597 
    DT.120733201  DT.91992532  DT.92457180  DT.95370886  DT.100845335  DT.100893460  DT.87001623  DT.95370883 

    24/670 AceView cDNA sequences (see all 670):

    CB137714 AV645969 AV653927 T71791 AV646135 T67431 AV646061 BM928005 
    T60963 AV656457 T28545 CB116644 AA341846 BI833184 BG617717 AV651945 
    M27875 BQ652768 CR614893 BM928561 BU839531 N75364 N74286 BV179732 

    highest scoring ESTs for APOA1:

    X02162 BC005380 BG533259 BG562890 BG563370 BG566832 BG568057 BG616714 BG617717 BG618385 

    Unigene Cluster for APOA1:

    Apolipoprotein A-I
    Hs.93194  [show with all ESTs]
    Unigene Representative Sequence: BM559512


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for APOA1

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
    SP1:              -     -                                 
    SP2:                    -                                 
    SP3:                                                      
    SP4:                                -                     
    SP5:                                -     -               

    About this scheme

    ECgene alternative splicing isoforms for APOA1
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359492 ENST00000375329 ENST00000236850(uc001ppv.1) ENST00000375323(uc001ppu.1)
    ENST00000375320

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    APOA1 expression in normal and diseased human tissues

    1  / 2  / 3

    5 probe-sets matching APOA1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    39106_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X02162 1.00 1.00 1.00 1
    204450_x_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000039 0.60 1.00 0.82 1
    217073_x_at2, 3 U133-A 1 1.00 1.00 -- -- X02162 1.00 1.00 1.00 1
    204450_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    217073_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    APOA1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    APOA1 gene expression
    APOA1 gene electronic northern expression
    APOA1 gene sage expression
    About these images

    CGAP SAGE TAG: TGGACGCGCT

    SOURCE GeneReport for Unigene cluster: Hs.93194

    Expression variation in blood from EXPOLDB for APOA1

    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
    Tissue specificity: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small
    intestine

    Primers: OriGene genome-wide validated SYBR primer pairs: APOA1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for APOA1: PPH02633A
        SABiosciences Expression via Pathway-Focused PCR Arrays including APOA1 (see all 3): PAHS-038A PAHS-057A  


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for APOA1 gene from 5/6 species (see all 6)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    APOA11   -- apolipoprotein A-I 87.84(n)
    85.34(a)
    479427  XM_536564.2  XP_536564.2 
    chimpanzee
    (Pan troglodytes)
    APOA11   -- apolipoprotein A-I 99.75(n)
    100(a)
    451564  XM_001153269.1  XP_001153269.1 
    cow
    (Bos taurus)
    APOA11   -- apolipoprotein A-I 84.91(n)
    79.25(a)
    281631  NM_174242.3  NP_776667.2 
    mouse
    (Mus musculus)
    Apoa11 , 5 9 (25.36 cM)5
    apolipoprotein A-I1, 5 76.52(n)1
    65.91(a)1
    118061  NM_009692.21  NP_033822.11 
     AK0761875  AK1318645  (see all 17)
    chicken
    (Gallus gallus)
    APOA11   -- apolipoprotein A-I 64.13(n)
    51.46(a)
    425629  XM_423364.2  XP_423364.2 
    About this table        Species with no ortholog for APOA1

    ENSEMBL Gene Tree for APOA1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for APOA1 gene
    APOA42  APOA52  

    APOA1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/39 NCBI SNPs in APOA1 are shown (see all 39)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs6701,2
    C,F,H116708413(-) GGGCCG/AGGGCT 1 -- ng515Minor allele frequency- A:0.21NS EA 332
    rs50721,2
    C,F,H,116707583(-) GAAACC/TGGAAT 1 -- int111Minor allele frequency- T:0.14MN NS EA NA WA 380
    rs50731,2
    C,F116707513(-) GATGCG/ATGATC 1 -- int14Minor allele frequency- A:0.06MN NS WA 274
    rs50741,2
    F116707337(-) GCACCA/CGTCCC 1 -- int11Minor allele frequency- C:0.25MN 68
    rs50751,2
    F116707191(-) CCAGGG/CCTCAC 1 -- int11Minor allele frequency- C:0.05MN 80
    rs50761,2
    C,F116707190(-) CAGGGC/TTCACC 1 -- int16Minor allele frequency- T:0.09MN NS EA 496
    rs50811,2
    C,F116706346(+) CGTCCA/TGTCTG 1 -- ng316Minor allele frequency- T:0.11MN NS 502
    rs6321531,2
    C,F,A116710239(+) caaagG/Tatttt 1 -- ng514Minor allele frequency- T:0.08NS EA WA 302
    rs13741171,2
    C,A,H116709438(-) TGCTGG/AGGGAG 1 -- ng512Minor allele frequency- A:0.09NS NA 42
    rs20706651,2
    C,F,H116707684(-) AGGGGC/TAGGGG 1 -- int112Minor allele frequency- T:0.15NS EA NA WA 398
    About this table

    HapMap Linkage Disequilibrium images for APOA1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for APOA1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing APOA1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    APOA1 for disorders           About GeneDecksing

    OMIM: 107680

    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

  • Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as
  • familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant
  • Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1
  • (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder
    characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease,
    hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients,
    ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature
    chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I
  • Defects in APOA1 are the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) [MIM:107680]; also
  • known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized
    amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. The clinical picture is dominated by
    neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal
    amyloidosis. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in
    several, but vitreous opacities are not observed
  • Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:105200]; also known as systemic
  • non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to
    deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no
    involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome,
    arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash

    10/95 Novoseek disease relationships for APOA1 gene (see all 95)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tangier disease 86.3 32 7615839 (3), 9931341 (2), 8347683 (1), 14767869 (1) (see all 22)
    atherosclerosis 83.1 268 12208466 (7), 18497309 (4), 8040345 (4), 20395699 (3) (see all 99)
    hypoalphalipoproteinemia 81.9 15 11292828 (3), 7712672 (1), 12270762 (1), 9253538 (1) (see all 9)
    coronary heart disease 79.4 89 7583566 (2), 10840998 (2), 2041289 (1), 8934336 (1) (see all 58)
    dyslipidemia 75.6 18 15751988 (2), 10377488 (1), 15504988 (1), 9472456 (1) (see all 15)
    hypertriglyceridemia 74.7 44 15301543 (4), 17919884 (3), 1900192 (2), 8148350 (2) (see all 25)
    coronary artery disease 74.3 102 2116785 (4), 1531990 (3), 8098786 (3), 1585854 (2) (see all 70)
    cardiovascular diseases 73 68 15314690 (2), 16901406 (2), 15498770 (2), 17234819 (2) (see all 52)
    amyloidosis hereditary 72.3 8 11849445 (1), 1443041 (1), 7868080 (1), 8675681 (1) (see all 6)
    cetp deficiency 72.1 6 10532685 (1), 19023137 (1), 2215607 (1), 14657195 (1) (see all 5)
    About this table

    Human Gene Mutation Database (HGMD): APOA1
    Genetic Association Database (GAD): APOA1
    Human Genome Epidemiology (HuGE) Navigator: APOA1 (177 documents)

    Export disorders and mutations for APOA1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/2464 PubMed articles for APOA1 gene, integrated from 7 sources (see all 2464):
    (articles sorted by number of sources associating them with APOA1)
    1. Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol. (PubMed id 12270762)1, 5, 7 Keyhan G....Hegele R.A. (2002)
    2. Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. (PubMed id 2111322)1, 2, 7 von Eckardstein A....Assmann G. (1990)
    3. A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. (PubMed id 9514407)1, 2, 7 Huang W.... Arakawa K. (1998)
    4. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PubMed id 1502149)1, 2, 7 Soutar A.K.... Pepys M.B. (1992)
    5. Relationship between plasma HDL subclasses distribution and apoA-I gene polymorphisms. (PubMed id 15925353)1, 4, 7 Jia L....Long S. (2005)
    6. Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus. (PubMed id 15910632)1, 4, 7 Morcillo S....Soriguer F. (2005)
    7. Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects. (PubMed id 15585206)1, 4, 7 Relvas W.G....Fonseca F.A. (2005)
    8. The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. (PubMed id 12556235)1, 4, 7 Garasto S....De Benedictis G. (2003)
    9. Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD. (PubMed id 15657615)1, 4, 7 Souverein O.W....Tanck M.W. (2005)
    10. APOA1 polymorphisms are associated with variations in serum triglyceride concentrations in hypercholesterolemic individuals. (PubMed id 16309370)1, 4, 7 Sorkin S.C....Hirata R.D. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 335 HGNC: 600 AceView: APOA1 Ensembl:ENSG00000118137 euGenes: HUgn335
    ECgene: APOA1 Kegg: 335 H-InvDB: APOA1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1

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    Patent Information for APOA1 gene:
    Search GeneIP for patents involving APOA1

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