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Protein

Apolipoprotein A-V

Gene

APOA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

Induced in early phase of liver regeneration.

Caution

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processLipid transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-8963901 Chylomicron remodeling
SIGNORiQ6Q788

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110243.11
HGNCiHGNC:17288 APOA5
MIMi606368 gene
neXtProtiNX_Q6Q788

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chylomicron, HDL, Secreted, VLDL

Pathology & Biotechi

Involvement in diseasei

Hypertriglyceridemia, familial (FHTR)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:145750
Hyperlipoproteinemia 5 (HLPP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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).
See also OMIM:144650

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi116519
MalaCardsiAPOA5
MIMi144650 phenotype
145750 phenotype
OpenTargetsiENSG00000110243
Orphaneti70470 Hyperlipoproteinemia type 5
413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4
PharmGKBiPA24888

Polymorphism and mutation databases

BioMutaiAPOA5
DMDMi60391728

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000198124 – 366Apolipoprotein A-VAdd BLAST343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei55Phosphothreonine; by FAM20C1 Publication1
Modified residuei59PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6Q788
PaxDbiQ6Q788
PeptideAtlasiQ6Q788
PRIDEiQ6Q788
ProteomicsDBi67276

PTM databases

iPTMnetiQ6Q788
PhosphoSitePlusiQ6Q788

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

BgeeiENSG00000110243 Expressed in 31 organ(s), highest expression level in right lobe of liver
CleanExiHS_APOA5
ExpressionAtlasiQ6Q788 baseline and differential
GenevisibleiQ6Q788 HS

Interactioni

Subunit structurei

Interacts with GPIHBP1.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125518, 3 interactors
IntActiQ6Q788, 22 interactors
STRINGi9606.ENSP00000227665

Structurei

3D structure databases

ProteinModelPortaliQ6Q788
SMRiQ6Q788
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili54 – 157Sequence analysisAdd BLAST104
Coiled coili236 – 262Sequence analysisAdd BLAST27

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410IKFF Eukaryota
ENOG410YHUG LUCA
GeneTreeiENSGT00530000063081
HOGENOMiHOG000253942
HOVERGENiHBG050545
InParanoidiQ6Q788
KOiK09025
OMAiAFRHDTF
OrthoDBiEOG091G0IA5
PhylomeDBiQ6Q788
TreeFamiTF334458

Family and domain databases

InterProiView protein in InterPro
IPR000074 ApoA_E
PfamiView protein in Pfam
PF01442 Apolipoprotein, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JZZ0C9JZZ0_HUMAN
Apolipoprotein A-V
APOA5
162Annotation score:

Sequence cautioni

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

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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02116519S → W in allele APOA5*3; associated with high plasma triglyceride levels. 3 PublicationsCorresponds to variant dbSNP:rs3135506EnsemblClinVar.1
Natural variantiVAR_03512437D → E. Corresponds to variant dbSNP:rs34282181EnsemblClinVar.1
Natural variantiVAR_021166153V → M1 PublicationCorresponds to variant dbSNP:rs3135507EnsemblClinVar.1
Natural variantiVAR_021167185G → C Associated with high plasma triglyceride levels. 1 PublicationCorresponds to variant dbSNP:rs2075291EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_016872658.1, XM_017017169.1
UniGeneiHs.283923

Genome annotation databases

EnsembliENST00000227665; ENSP00000227665; ENSG00000110243
ENST00000542499; ENSP00000445002; ENSG00000110243
GeneIDi116519
KEGGihsa:116519
UCSCiuc001ppr.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_016872658.1, XM_017017169.1
UniGeneiHs.283923

3D structure databases

ProteinModelPortaliQ6Q788
SMRiQ6Q788
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125518, 3 interactors
IntActiQ6Q788, 22 interactors
STRINGi9606.ENSP00000227665

PTM databases

iPTMnetiQ6Q788
PhosphoSitePlusiQ6Q788

Polymorphism and mutation databases

BioMutaiAPOA5
DMDMi60391728

Proteomic databases

MaxQBiQ6Q788
PaxDbiQ6Q788
PeptideAtlasiQ6Q788
PRIDEiQ6Q788
ProteomicsDBi67276

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000227665; ENSP00000227665; ENSG00000110243
ENST00000542499; ENSP00000445002; ENSG00000110243
GeneIDi116519
KEGGihsa:116519
UCSCiuc001ppr.4 human

Organism-specific databases

CTDi116519
DisGeNETi116519
EuPathDBiHostDB:ENSG00000110243.11
GeneCardsiAPOA5
HGNCiHGNC:17288 APOA5
MalaCardsiAPOA5
MIMi144650 phenotype
145750 phenotype
606368 gene
neXtProtiNX_Q6Q788
OpenTargetsiENSG00000110243
Orphaneti70470 Hyperlipoproteinemia type 5
413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4
PharmGKBiPA24888
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKFF Eukaryota
ENOG410YHUG LUCA
GeneTreeiENSGT00530000063081
HOGENOMiHOG000253942
HOVERGENiHBG050545
InParanoidiQ6Q788
KOiK09025
OMAiAFRHDTF
OrthoDBiEOG091G0IA5
PhylomeDBiQ6Q788
TreeFamiTF334458

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-8963901 Chylomicron remodeling
SIGNORiQ6Q788

Miscellaneous databases

GeneWikiiAPOA5
GenomeRNAii116519
PROiPR:Q6Q788
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110243 Expressed in 31 organ(s), highest expression level in right lobe of liver
CleanExiHS_APOA5
ExpressionAtlasiQ6Q788 baseline and differential
GenevisibleiQ6Q788 HS

Family and domain databases

InterProiView protein in InterPro
IPR000074 ApoA_E
PfamiView protein in Pfam
PF01442 Apolipoprotein, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiAPOA5_HUMAN
AccessioniPrimary (citable) accession number: Q6Q788
Secondary accession number(s): B0YIV9
, Q3MIK6, Q6UWK9, Q9UBJ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 137 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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