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Q6Q788

- APOA5_HUMAN

UniProt

Q6Q788 - APOA5_HUMAN

Protein

Apolipoprotein A-V

Gene

APOA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    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.By similarity3 Publications

    GO - Molecular functioni

    1. enzyme activator activity Source: BHF-UCL
    2. enzyme binding Source: BHF-UCL
    3. heparin binding Source: BHF-UCL
    4. lipase activator activity Source: BHF-UCL
    5. lipase binding Source: BHF-UCL
    6. lipid binding Source: UniProtKB
    7. lipoprotein lipase activator activity Source: BHF-UCL
    8. lipoprotein particle receptor binding Source: BHF-UCL
    9. low-density lipoprotein particle receptor binding Source: BHF-UCL
    10. phosphatidylcholine binding Source: BHF-UCL
    11. phospholipid binding Source: BHF-UCL

    GO - Biological processi

    1. acylglycerol homeostasis Source: BHF-UCL
    2. cellular lipid metabolic process Source: Reactome
    3. cholesterol homeostasis Source: BHF-UCL
    4. lipid transport Source: BHF-UCL
    5. lipoprotein metabolic process Source: InterPro
    6. organ regeneration Source: Ensembl
    7. positive regulation of fatty acid biosynthetic process Source: BHF-UCL
    8. positive regulation of lipid catabolic process Source: BHF-UCL
    9. positive regulation of lipoprotein lipase activity Source: BHF-UCL
    10. positive regulation of receptor-mediated endocytosis Source: BHF-UCL
    11. positive regulation of triglyceride catabolic process Source: BHF-UCL
    12. positive regulation of very-low-density lipoprotein particle remodeling Source: BHF-UCL
    13. response to hormone Source: Ensembl
    14. small molecule metabolic process Source: Reactome
    15. tissue regeneration Source: UniProtKB
    16. triglyceride catabolic process Source: BHF-UCL
    17. triglyceride homeostasis Source: BHF-UCL
    18. triglyceride metabolic process Source: BHF-UCL
    19. triglyceride-rich lipoprotein particle remodeling Source: Ensembl

    Keywords - Biological processi

    Lipid transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_116145. PPARA activates gene expression.
    REACT_6841. Chylomicron-mediated lipid transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Apolipoprotein A-V
    Short name:
    Apo-AV
    Short name:
    ApoA-V
    Alternative name(s):
    Apolipoprotein A5
    Regeneration-associated protein 3
    Gene namesi
    Name:APOA5
    Synonyms:RAP3
    ORF Names:UNQ411/PRO773
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17288. APOA5.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. chylomicron Source: UniProtKB
    2. extracellular region Source: UniProtKB
    3. extracellular space Source: BHF-UCL
    4. high-density lipoprotein particle Source: BHF-UCL
    5. very-low-density lipoprotein particle Source: BHF-UCL

    Keywords - Cellular componenti

    Chylomicron, HDL, Secreted, VLDL

    Pathology & Biotechi

    Involvement in diseasei

    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi144650. phenotype.
    145750. phenotype.
    Orphaneti413. Hyperlipoproteinemia type 4.
    70470. Hyperlipoproteinemia type 5.
    PharmGKBiPA24888.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 366343Apolipoprotein A-VPRO_0000001981Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei59 – 591PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylation sites are present in the extracellular medium.

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6Q788.
    PaxDbiQ6Q788.
    PRIDEiQ6Q788.

    PTM databases

    PhosphoSiteiQ6Q788.

    Expressioni

    Tissue specificityi

    Liver and plasma.3 Publications

    Inductioni

    Up-regulated by PPARA agonists, which are used clinically to lower serum TG (such as fibrates).1 Publication

    Gene expression databases

    ArrayExpressiQ6Q788.
    BgeeiQ6Q788.
    CleanExiHS_APOA5.
    GenevestigatoriQ6Q788.

    Interactioni

    Subunit structurei

    Interacts with GPIHBP1.1 Publication

    Protein-protein interaction databases

    BioGridi125518. 3 interactions.
    IntActiQ6Q788. 6 interactions.
    STRINGi9606.ENSP00000227665.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6Q788.
    SMRiQ6Q788. Positions 56-316.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili54 – 157104Sequence AnalysisAdd
    BLAST
    Coiled coili236 – 26227Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the apolipoprotein A1/A4/E family.Curated

    Keywords - Domaini

    Coiled coil, Signal

    Phylogenomic databases

    eggNOGiNOG46095.
    HOGENOMiHOG000253942.
    HOVERGENiHBG050545.
    InParanoidiQ6Q788.
    KOiK09025.
    OMAiHRSVAPH.
    OrthoDBiEOG7K9K48.
    PhylomeDBiQ6Q788.
    TreeFamiTF334458.

    Family and domain databases

    InterProiIPR000074. ApoA1_A4_E.
    [Graphical view]
    PfamiPF01442. Apolipoprotein. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q6Q788-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASMAAVLTW ALALLSAFSA TQARKGFWDY FSQTSGDKGR VEQIHQQKMA    50
    REPATLKDSL EQDLNNMNKF LEKLRPLSGS EAPRLPQDPV GMRRQLQEEL 100
    EEVKARLQPY MAEAHELVGW NLEGLRQQLK PYTMDLMEQV ALRVQELQEQ 150
    LRVVGEDTKA QLLGGVDEAW ALLQGLQSRV VHHTGRFKEL FHPYAESLVS 200
    GIGRHVQELH RSVAPHAPAS PARLSRCVQV LSRKLTLKAK ALHARIQQNL 250
    DQLREELSRA FAGTGTEEGA GPDPQMLSEE VRQRLQAFRQ DTYLQIAAFT 300
    RAIDQETEEV QQQLAPPPPG HSAFAPEFQQ TDSGKVLSKL QARLDDLWED 350
    ITHSLHDQGH SHLGDP 366
    Length:366
    Mass (Da):41,213
    Last modified:July 5, 2004 - v1
    Checksum:iA1C9C207024D0DAF
    GO

    Sequence cautioni

    The sequence AAF25661.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAF25662.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAQ89109.1 differs from that shown. Reason: Erroneous termination at position 275. Translated as Gln.

    Polymorphismi

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191S → W in allele APOA5*3; associated with high plasma triglyceride levels. 3 Publications
    Corresponds to variant rs3135506 [ dbSNP | Ensembl ].
    VAR_021165
    Natural varianti37 – 371D → E.
    Corresponds to variant rs34282181 [ dbSNP | Ensembl ].
    VAR_035124
    Natural varianti153 – 1531V → M.1 Publication
    Corresponds to variant rs3135507 [ dbSNP | Ensembl ].
    VAR_021166
    Natural varianti185 – 1851G → C Associated with high plasma triglyceride levels. 1 Publication
    Corresponds to variant rs2075291 [ dbSNP | Ensembl ].
    VAR_021167

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202889 mRNA. Translation: AAF25661.1. Different initiation.
    AF202890 mRNA. Translation: AAF25662.1. Different initiation.
    AY555191 Genomic DNA. Translation: AAS68229.1.
    AY422949 Genomic DNA. Translation: AAQ91808.1.
    AY358749 mRNA. Translation: AAQ89109.1. Sequence problems.
    EF444949 Genomic DNA. Translation: ACA05937.1.
    EF444949 Genomic DNA. Translation: ACA05938.1.
    BC101787 mRNA. Translation: AAI01788.1.
    BC101789 mRNA. Translation: AAI01790.1.
    CCDSiCCDS8376.2.
    RefSeqiNP_001160070.1. NM_001166598.1.
    NP_443200.2. NM_052968.4.
    XP_006718824.1. XM_006718761.1.
    UniGeneiHs.283923.

    Genome annotation databases

    EnsembliENST00000227665; ENSP00000227665; ENSG00000110243.
    ENST00000542499; ENSP00000445002; ENSG00000110243.
    GeneIDi116519.
    KEGGihsa:116519.
    UCSCiuc001ppr.3. human.

    Polymorphism databases

    DMDMi60391728.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202889 mRNA. Translation: AAF25661.1 . Different initiation.
    AF202890 mRNA. Translation: AAF25662.1 . Different initiation.
    AY555191 Genomic DNA. Translation: AAS68229.1 .
    AY422949 Genomic DNA. Translation: AAQ91808.1 .
    AY358749 mRNA. Translation: AAQ89109.1 . Sequence problems.
    EF444949 Genomic DNA. Translation: ACA05937.1 .
    EF444949 Genomic DNA. Translation: ACA05938.1 .
    BC101787 mRNA. Translation: AAI01788.1 .
    BC101789 mRNA. Translation: AAI01790.1 .
    CCDSi CCDS8376.2.
    RefSeqi NP_001160070.1. NM_001166598.1.
    NP_443200.2. NM_052968.4.
    XP_006718824.1. XM_006718761.1.
    UniGenei Hs.283923.

    3D structure databases

    ProteinModelPortali Q6Q788.
    SMRi Q6Q788. Positions 56-316.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125518. 3 interactions.
    IntActi Q6Q788. 6 interactions.
    STRINGi 9606.ENSP00000227665.

    PTM databases

    PhosphoSitei Q6Q788.

    Polymorphism databases

    DMDMi 60391728.

    Proteomic databases

    MaxQBi Q6Q788.
    PaxDbi Q6Q788.
    PRIDEi Q6Q788.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000227665 ; ENSP00000227665 ; ENSG00000110243 .
    ENST00000542499 ; ENSP00000445002 ; ENSG00000110243 .
    GeneIDi 116519.
    KEGGi hsa:116519.
    UCSCi uc001ppr.3. human.

    Organism-specific databases

    CTDi 116519.
    GeneCardsi GC11M116660.
    HGNCi HGNC:17288. APOA5.
    MIMi 144650. phenotype.
    145750. phenotype.
    606368. gene.
    neXtProti NX_Q6Q788.
    Orphaneti 413. Hyperlipoproteinemia type 4.
    70470. Hyperlipoproteinemia type 5.
    PharmGKBi PA24888.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46095.
    HOGENOMi HOG000253942.
    HOVERGENi HBG050545.
    InParanoidi Q6Q788.
    KOi K09025.
    OMAi HRSVAPH.
    OrthoDBi EOG7K9K48.
    PhylomeDBi Q6Q788.
    TreeFami TF334458.

    Enzyme and pathway databases

    Reactomei REACT_116145. PPARA activates gene expression.
    REACT_6841. Chylomicron-mediated lipid transport.

    Miscellaneous databases

    GeneWikii APOA5.
    GenomeRNAii 116519.
    NextBioi 79962.
    PROi Q6Q788.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6Q788.
    Bgeei Q6Q788.
    CleanExi HS_APOA5.
    Genevestigatori Q6Q788.

    Family and domain databases

    InterProi IPR000074. ApoA1_A4_E.
    [Graphical view ]
    Pfami PF01442. Apolipoprotein. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Apolipoprotein A-V. A novel apolipoprotein associated with an early phase of liver regeneration."
      van Der Vliet H.N., Sammels M.G., Leegwater A.C.J., Levels J.H.M., Reitsma P.H., Boers W., Chamuleau R.A.F.M.
      J. Biol. Chem. 276:44512-44520(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Liver.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TRP-19 AND MET-153.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. NHLBI resequencing and genotyping service (RS&G)
      Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Liver.
    6. "An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing."
      Pennacchio L.A., Olivier M., Hubacek J.A., Cohen J.C., Cox D.R., Fruchart J.-C., Krauss R.M., Rubin E.M.
      Science 294:169-173(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    7. "Structure-function studies of human apolipoprotein A-V: a regulator of plasma lipid homeostasis."
      Beckstead J.A., Oda M.N., Martin D.D.O., Forte T.M., Bielicki J.K., Berger T., Luty R., Kay C.M., Ryan R.O.
      Biochemistry 42:9416-9423(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "The human apolipoprotein AV gene is regulated by peroxisome proliferator-activated receptor-alpha and contains a novel farnesoid X-activated receptor response element."
      Prieur X., Coste H., Rodriguez J.C.
      J. Biol. Chem. 278:25468-25480(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    9. Cited for: SUBCELLULAR LOCATION.
    10. "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."
      O'Brien P.J., Alborn W.E., Sloan J.H., Ulmer M., Boodhoo A., Knierman M.D., Schultze A.E., Konrad R.J.
      Clin. Chem. 51:351-359(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    11. "Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution."
      Gin P., Beigneux A.P., Davies B., Young M.F., Ryan R.O., Bensadoun A., Fong L.G., Young S.G.
      Biochim. Biophys. Acta 1771:1464-1468(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GPIHBP1.
    12. "Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels."
      Pennacchio L.A., Olivier M., Hubacek J.A., Krauss R.M., Rubin E.M., Cohen J.C.
      Hum. Mol. Genet. 11:3031-3038(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TRP-19.
    13. "Ser19Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people."
      Vrablik M., Horinek A., Ceska R., Adamkova V., Poledne R., Hubacek J.A.
      J. Med. Genet. 40:E105-E105(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TRP-19.
    14. "A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia."
      Kao J.-T., Wen H.-C., Chien K.-L., Hsu H.-C., Lin S.-W.
      Hum. Mol. Genet. 12:2533-2539(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CYS-185.
    15. "Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment."
      Marcais C., Verges B., Charriere S., Pruneta V., Merlin M., Billon S., Perrot L., Drai J., Sassolas A., Pennacchio L.A., Fruchart-Najib J., Fruchart J.C., Durlach V., Moulin P.
      J. Clin. Invest. 115:2862-2869(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN HLPP5.

    Entry informationi

    Entry nameiAPOA5_HUMAN
    AccessioniPrimary (citable) accession number: Q6Q788
    Secondary accession number(s): B0YIV9
    , Q3MIK6, Q6UWK9, Q9UBJ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 105 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Induced in early phase of liver regeneration.

    Caution

    It is uncertain whether Met-1 or Met-4 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3