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Q6Q788

- APOA5_HUMAN

UniProt

Q6Q788 - APOA5_HUMAN

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Protein

Apolipoprotein A-V

Gene

APOA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ6Q788.
CleanExiHS_APOA5.
ExpressionAtlasiQ6Q788. baseline and differential.
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.
GeneTreeiENSGT00740000115662.
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

        10         20         30         40         50
MASMAAVLTW ALALLSAFSA TQARKGFWDY FSQTSGDKGR VEQIHQQKMA
60 70 80 90 100
REPATLKDSL EQDLNNMNKF LEKLRPLSGS EAPRLPQDPV GMRRQLQEEL
110 120 130 140 150
EEVKARLQPY MAEAHELVGW NLEGLRQQLK PYTMDLMEQV ALRVQELQEQ
160 170 180 190 200
LRVVGEDTKA QLLGGVDEAW ALLQGLQSRV VHHTGRFKEL FHPYAESLVS
210 220 230 240 250
GIGRHVQELH RSVAPHAPAS PARLSRCVQV LSRKLTLKAK ALHARIQQNL
260 270 280 290 300
DQLREELSRA FAGTGTEEGA GPDPQMLSEE VRQRLQAFRQ DTYLQIAAFT
310 320 330 340 350
RAIDQETEEV QQQLAPPPPG HSAFAPEFQQ TDSGKVLSKL QARLDDLWED
360
ITHSLHDQGH SHLGDP
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.
GeneTreei ENSGT00740000115662.
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

Bgeei Q6Q788.
CleanExi HS_APOA5.
ExpressionAtlasi Q6Q788. baseline and differential.
Genevestigatori Q6Q788.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 106 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