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APOA1 Gene

protein-coding   GIFtS: 69
GCID: GC11M116706

Apolipoprotein A-I

  See APOA1-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-I1 2
apo-AI2
Apo-AI3
ApoA-I3
Apolipoprotein A13

External Ids:    HGNC: 6001   Entrez Gene: 3352   Ensembl: ENSG000001181377   OMIM: 1076805   UniProtKB: P026473   

Export aliases for APOA1 gene to outside databases

Previous GC identifers: GC11M119059 GC11M118218 GC11M116740 GC11M116244 GC11M116211 GC11M112638


(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 APOA1 Gene:
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, Jul 2008)

GeneCards Summary for APOA1 Gene:
APOA1 (apolipoprotein A-I) is a protein-coding gene. Diseases associated with APOA1 include corneal clouding, autosomal recessive, and hypoalphalipoproteinemia. GO annotations related to this gene include enzyme binding and identical protein binding. An important paralog of this gene is APOA4.

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) 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 APOA1 gene promoter:
         COUP-TF1   COUP   HNF-4alpha2   C/EBPalpha   HNF-4alpha1   PPAR-gamma1   COUP-TF   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOA1 promoter sequence
   Search Chromatin IP Primers for APOA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M116706:  view genomic region     (about GC identifiers)

Start:
116,706,467 bp from pter      End:
116,708,666 bp from pter
Size:
2,200 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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. Interacts with NDRG1
Mass spectrometry: Mass=28081; Method=Electrospray; Range=25-267; Note=Without methionine sulfoxide;
Source=PubMed:12576517;
Mass spectrometry: Mass=28098; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at
Met-110; Source=PubMed:12576517;
Mass spectrometry: Mass=28095; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at
Met-136; Source=PubMed:12576517;
Mass spectrometry: Mass=28114; Method=Electrospray; Range=25-267; Note=With 2 methionine sulfoxides, oxidation at
Met-110 and Met-136; Source=PubMed:12576517;
Selected PDB 3D structures from and Proteopedia for APOA1 (see all 10):
1AV1 (3D)        1GW3 (3D)        1GW4 (3D)        1ODP (3D)        1ODQ (3D)        1ODR (3D)    
Secondary accessions: A8K866 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8

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

Explore proteomics data for APOA1 at MOPED

Post-translational modifications: 

  • Glycosylated (By similarity)1
  • Palmitoylated1
  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Thr221, Ser228, Lys263
  • Modification sites at PhosphoSitePlus

  • See APOA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000030.1  
    ENSEMBL proteins: 
     ENSP00000364469   ENSP00000352471   ENSP00000364478   ENSP00000364472   ENSP00000236850  
    Reactome Protein details: P02647

    APOA1 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for APOA1
    Sino Biological Cell Lysate for APOA1
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    Cloud-Clone Corp. Proteins for APOA1

     
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    antibodies-online proteins for APOA1 (63 products) 

     
    antibodies-online peptides for APOA1

    APOA1 Antibody 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 P02647

    ProtoNet protein and cluster: P02647

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

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


    Find genes that share domains with APOA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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

         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

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IDA11297421
    GO:0005319lipid transporter activity ----
    GO:0005515protein binding IPI11297421
    GO:0005543phospholipid binding IDA12810715
    GO:0005548phospholipid transporter activity IEA--
         
    Find genes that share ontologies with APOA1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Apoa1):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system 

    Find genes that share phenotypes with APOA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APOA1: Apoa1/Apoc3/Apoa4Apoa1/Apoc3/tm1Hmez Apoa1tm1Bres Apoa1tm1Unc

       genOway: Develop your customized and physiologically relevant rodent model for APOA1

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    Sino Biological Human cDNA Clone for APOA1
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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
    APOA1_HUMAN, P02647: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    endoplasmic reticulum4
    endosome4
    plasma membrane4
    nucleus2
    peroxisome2
    cytoskeleton1
    golgi apparatus1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005634nucleus IEA--
    GO:0005769early endosome TAS--
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with APOA1           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 APOA1 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    HDL-mediated lipid transport0.00
    3Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging by Class B Receptors0.00
    Scavenging of Heme from Plasma0.53
    Scavenging by Class A Receptors0.00
    4Fatty 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
    5Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44


    Find genes that share SuperPaths with APOA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for APOA1
        Ca, cAMP and Lipid Signaling

    1 GeneGo (Thomson Reuters) Pathway for APOA1
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

    5 BioSystems Pathways for APOA1
        Statin Pathway
    Folate Metabolism
    Selenium Pathway
    Vitamin B12 Metabolism
    FOXA2 and FOXA3 transcription factor networks


    Selected Reactome Pathways for APOA1 (see all 10)
        Scavenging of heme from plasma
    Chylomicron-mediated lipid transport
    Amyloids
    ABCA transporters in lipid homeostasis
    Retinoid metabolism and transport

    1 PharmGKB Pathway for APOA1
        Statin Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for APOA1):
        PPAR signaling pathway
    Fat digestion and absorption
    Vitamin digestion and absorption
    African trypanosomiasis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA1: 
              Atherosclerosis in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APOA1 (P026471, 2, 3 ENSP000002368504) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPP007381, 2, 3, ENSP000003481704EBI-701692,EBI-1220767 MINT-7258829 MINT-7258811 MINT-7258868 I2D: score=2 STRING: ENSP00000348170
    APOA1P026471, 2EBI-701692,EBI-701692 MINT-8373852 MINT-8373868 MINT-8373823 MINT-8373837 MINT-8373897 MINT-8373884
    ABCA1O954771, 3, ENSP000003638684EBI-701692,EBI-784112 I2D: score=2 STRING: ENSP00000363868
    APPP050671, 3, ENSP000002849814EBI-701692,EBI-77613 I2D: score=1 STRING: ENSP00000284981
    TNFRSF10CO147982, 3MINT-63077 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 57):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001932regulation of protein phosphorylation IEA--
    GO:0001935endothelial cell proliferation IEA--
    GO:0002576platelet degranulation TAS--
    GO:0002740negative regulation of cytokine secretion involved in immune response IDA12458630

    Find genes that share ontologies with APOA1           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 APOA1

    1 HMDB Compound for APOA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--

    Selected Novoseek inferred chemical compound relationships for APOA1 gene (see all 121)    About this table
    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)

    1 PharmGKB related drug/compound annotation for APOA1 gene    About this table
    Drug/compound PharmGKB Annotation
    fenofibrateCA  



    Find genes that share compounds with APOA1           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 APOA1 gene: 
    NM_000039.1  

    Unigene Cluster for APOA1:

    Apolipoprotein A-I
    Hs.93194  [show with all ESTs]
    Unigene Representative Sequence: BM559512
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375320 ENST00000359492 ENST00000375329 ENST00000375323 ENST00000236850(uc001ppv.1)

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    Additional mRNA sequence: 

    AK292231.1 BC005380.1 BC110286.1 M11791.1 M27875.1 M29068.1 X00566.1 X02162.1 

    Selected 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.100845337  DT.100845345  DT.87001623  DT.95370884  DT.100845335 
    DT.87013866  DT.100845346  DT.102823597  DT.120733201  DT.91992532  DT.92457180  DT.95370886  DT.100893460 

    Selected AceView cDNA sequences (see all 670):

    BQ646862 AA331362 N75364 BQ648674 BQ645409 AA340283 CB163517 CR622099 
    M27875 BF514429 T56987 CB163896 BG617717 AV688427 CB155987 AX752114 
    CR606088 BQ652768 BM091384 BQ012283 T67496 T74610 BF513452 BM928561 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for APOA1

    (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)
    About This Section

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    APOA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACGCGCT
    APOA1 Expression
    About this image


    APOA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Hypoblast (Extraembryonic Tissues)
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     Gonad
             XY Germ Cells Testis Cord
    APOA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.93194

    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
    Tissue specificity: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small
    intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary
    artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present
    in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing
    severity of disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA1: 
              Atherosclerosis in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

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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)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for APOA1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoa11 , 5 apolipoprotein A-I1, 5 76.52(n)1
    65.91(a)1
      9 (25.36 cM)5
    118061  NM_009692.41  NP_033822.21 
     462285805 
    chicken
    (Gallus gallus)
    Aves APOA11 apolipoprotein A-I 62.86(n)
    50.19(a)
      396536  NM_205525.4  NP_990856.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    24(a)
    many ↔ many
    GL343816.1(166777-173207)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia apoa11 apolipoprotein A-I 51.35(n)
    40.54(a)
      448709  NM_001005127.1  NP_001005127.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apoa1b1 apolipoprotein A-Ib 51.66(n)
    33.77(a)
      100101640  NM_001100144.2  NP_001093614.2 


    ENSEMBL Gene Tree for APOA1 (if available)
    TreeFam Gene Tree for APOA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APOA1 gene
    APOA42  

    Find genes that share paralogs with APOA1           About GenesLikeMe



    (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
    APOA1_HUMAN, P02647: Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL
    cholesterol [MIM:107680]


    Selected SNPs for APOA1 (see all 178)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315741,2,,4
    CAmyloidosis 8 (AMYL8)4 pathogenic1116571552(-) ACAGCC/GGCAGA 2 R G mis1 ese30--------
    VAR_0006104
    Amyloidosis 8 (AMYL8)4--see VAR_0006102 L R mis40--------
    rs1219127171,2
    Cpathogenic1116570447(-) CCACCG/AAGCAT 2 /K /E mis11Minor allele frequency- A:0.00NA 3758
    rs289315751,2
    Cpathogenic1116570770(-) GGATCC/TGGAGG 2 P L mis1 ese30--------
    rs289294761,2,,4
    Cpathogenic1116571599(-) GGATCG/TAGTGA 2 R L mis1 ese30--------
    rs1219127211,2
    Cpathogenic1116571617(-) ACCCCC/GCCAGA 2 P R mis10--------
    rs1219127201,2,,4
    C,Fpathogenic1116571620(-) TGAACA/C/GCCCCC 2 P R mis11NA 4476
    rs127210251,2
    C,F--116569830(+) GCTCCG/ATCCCG 1 -- ds50013Minor allele frequency- A:0.04NS 240
    rs1826925151,2
    --116569873(+) CTATAA/CGGACA 1 -- ds50010--------
    rs127210261,2
    C,F--116569951(+) AGGGCT/GGCAGG 1 -- ds50013Minor allele frequency- G:0.04NS 240

    HapMap Linkage Disequilibrium report for APOA1 (116706467 - 116708666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APOA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898402CNV Gain21882294

    Human Gene Mutation Database (HGMD): APOA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOA1
    DNA2.0 Custom Variant and Variant Library Synthesis for APOA1

    (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: 107680   
    OMIM disorders: 604091  105200  
    UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647
  • High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is
    characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and
    a reduction in cellular cholesterol efflux. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence
    of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary
    artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and
    weakness. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type,
    also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed:3142462 and
    PubMed:2123470). 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
  • Amyloidosis 8 (AMYL8) [MIM:105200]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for APOA1 (see all 46):    
    About MalaCards
    corneal clouding, autosomal recessive    hypoalphalipoproteinemia    cerebral atherosclerosis    familial combined hyperlipoproteinemia
    amyloidosis, 3 or more types    familial renal amyloidosis due to apolipoprotein ai variant    apo a-i deficiency    apoa1-related familial visceral amyloidosis
    apoa1-associated familial high density lipoprotein deficiency    apoa-i and apoc-iii deficiency, combined    amyloidosis, hereditary renal    avascular necrosis of the femoral head
    amyloidosis, renal    familial hdl deficiency    tangier disease    hepatic lipase deficiency
    fish-eye disease    multiple myeloma    reflex sympathetic dystrophy    amyloidosis

    11 diseases from the University of Copenhagen DISEASES database for APOA1:
    Atherosclerosis     Coronary heart disease     Tangier disease     Diabetes mellitus
    Familial hyperlipidemia     Amyloidosis     Myocardial infarction     Hypertension
    Norum disease     Kidney disease     Cerebrovascular accident

    Find genes that share disorders with APOA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for APOA1 gene (see all 95)    About this table

    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)

    Genetic Association Database (GAD): APOA1
    Human Genome Epidemiology (HuGE) Navigator: APOA1 (189 documents)

    Export disorders for APOA1 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 APOA1 gene, integrated from 10 sources (see all 2640):
    (articles sorted by number of sources associating them with APOA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 9 von Eckardstein A....Assmann G. (J. Biol. Chem. 1990)
    2. A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. (PubMed id 9514407)1, 2, 9 Huang W.... Arakawa K. (Arterioscler. Thromb. Vasc. Biol. 1998)
    3. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PubMed id 1502149)1, 2, 9 Soutar A.K.... Pepys M.B. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    4. Relationship between plasma HDL subclasses distribution and apoA-I gene polymorphisms. (PubMed id 15925353)1, 4, 9 Jia L....Long S. ( international journal of clinical chemistry 2005)
    5. Association of polymorphisms in apolipoprotein A1 and apolipoprotein B genes with lipid profile in Tamilian population. (PubMed id 19729689)1, 4, 9 Padmaja N....Adithan C. (Indian Heart J 2009)
    6. Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus. (PubMed id 15910632)1, 4, 9 Morcillo S....Soriguer F. (Diabet. Med. 2005)
    7. Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein. (PubMed id 12576517)1, 2, 9 Pankhurst G.... Stocker R. (J. Lipid Res. 2003)
    8. Influence of cholesteryl ester transfer protein, peroxisome proliferator-activated receptor alpha, apolipoprotein E, and apolipoprotein A-I polymorphisms on high-density lipoprotein cholesterol, apolipoprotein A-I, lipoprotein A-I, and lipoprotein A-I:A-II concentrations: the Prospective Epidemiological Study of Myocardial Infarction study. (PubMed id 19217440)1, 4, 9 Do H.Q....Bard J.M. (Metab. Clin. Exp. 2009)
    9. Apolipoprotein AI and Apolipoprotein B gene polymorphisms and lipid profile in Tamilian population. (PubMed id 19191080)1, 4, 9 Padmaja N....Adithan C. (Ann. Hum. Biol. 2009)
    10. Role of apolipoproteins E and A-I: epistatic villains of triglyceride mediation in coronary heart disease. (PubMed id 18378026)1, 4, 9 Singh P....Kaur T. (Int. J. Cardiol. 2009)

    (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: 335 HGNC: 600 AceView: APOA1 Ensembl:ENSG00000118137 euGenes: HUgn335
    ECgene: APOA1 Kegg: 335 H-InvDB: APOA1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for APOA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=APOA1[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOA1 gene:
    Search GeneIP for patents involving APOA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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