APOA5
Apolipoprotein A-V
Also known as: APOA-V, APOA5_HUMAN, RAP3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6Q788
- Gene
- APOA5
- Ensembl
- ENSG00000110243
- Chromosome
- 11
- Canonical length
- 366 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
366 residues, UniProt reviewed canonical sequence.
>Q6Q788|APOA5
1 MASMAAVLTW ALALLSAFSA TQARKGFWDY FSQTSGDKGR VEQIHQQKMA REPATLKDSL
61 EQDLNNMNKF LEKLRPLSGS EAPRLPQDPV GMRRQLQEEL EEVKARLQPY MAEAHELVGW
121 NLEGLRQQLK PYTMDLMEQV ALRVQELQEQ LRVVGEDTKA QLLGGVDEAW ALLQGLQSRV
181 VHHTGRFKEL FHPYAESLVS GIGRHVQELH RSVAPHAPAS PARLSRCVQV LSRKLTLKAK
241 ALHARIQQNL DQLREELSRA FAGTGTEEGA GPDPQMLSEE VRQRLQAFRQ DTYLQIAAFT
301 RAIDQETEEV QQQLAPPPPG HSAFAPEFQQ TDSGKVLSKL QARLDDLWED ITHSLHDQGH
361 SHLGDPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against APOA5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 569 nTPM
Expression across tissuesHPA
Tissue
- liver: 569 nTPM
- pancreas: 2.5 nTPM
- testis: 0.6 nTPM
- small intestine: 0.3 nTPM
- spleen: 0.3 nTPM
- adipose tissue: 0.1 nTPM
Single-cell type
- hepatocytes: 1,588 nCPM
- kupffer cells: 4.1 nCPM
- cholangiocytes: 3.3 nCPM
- retinal horizontal cells: 2 nCPM
- enterocytes: 1.7 nCPM
- late spermatids: 1.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.3 nTPM
- medulla oblongata: 0.2 nTPM
- pons: 0.2 nTPM
- cerebral cortex: 0.1 nTPM
- hypothalamus: 0.1 nTPM
- white matter: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about APOA5.
Disease | AllUniProt
Conditions APOA5 is implicated in, by any mechanism.
- Hypertriglyceridemia 1 (HYTG1) MIM:145750
- Hyperlipoproteinemia 5 (HLPP5) MIM:144650
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 344 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cardiovascular phenotype
- Familial type 5 hyperlipoproteinemia
- Hypertriglyceridemia 1
- Hypertriglyceridemia
- Hyperlipoproteinemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.6
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.86
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acylglycerol homeostasis
- cholesterol efflux
- cholesterol homeostasis
- cholesterol metabolic process
- lipid transport
- lipoprotein metabolic process
- phospholipid efflux
- positive regulation of fatty acid biosynthetic process
- positive regulation of lipid catabolic process
- positive regulation of receptor-mediated endocytosis
- positive regulation of triglyceride catabolic process
- positive regulation of very-low-density lipoprotein particle remodeling
- tissue regeneration
- triglyceride catabolic process
- triglyceride homeostasis
- triglyceride metabolic process
- triglyceride-rich lipoprotein particle remodeling
- very-low-density lipoprotein particle clearance
Molecular functions
- cholesterol transfer activity
- enzyme binding
- heparin binding
- lipase activator activity
- lipase binding
- lipid binding
- lipoprotein lipase activator activity
- lipoprotein particle receptor binding
- low-density lipoprotein particle receptor binding
- phosphatidylcholine binding
- phosphatidylcholine-sterol O-acyltransferase activator activity
- phospholipid binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of APOA5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads APOA5 as an antibody target. Whether an autoantibody or antibody against APOA5 could matter depends on whether native APOA5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
APOA5 is annotated as secreted, so native APOA5 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label APOA5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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