ENSG00000110243


Homo sapiens

Features
Gene ID: ENSG00000110243
  
Biological name :APOA5
  
Synonyms : APOA5 / apolipoprotein A5 / Q6Q788
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 116789367
Gene end: 116792420
  
Corresponding Affymetrix probe sets: 224243_at (Human Genome U133 Plus 2.0 Array)   224244_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000227665
Ensembl peptide - ENSP00000445002
Ensembl peptide - ENSP00000399701
NCBI entrez gene - 116519     See in Manteia.
OMIM - 606368
RefSeq - XM_017017169
RefSeq - NM_001166598
RefSeq - NM_052968
RefSeq Peptide - NP_001160070
RefSeq Peptide - NP_443200
swissprot - C9JZZ0
swissprot - A0A0B4RUS7
swissprot - Q6Q788
Ensembl - ENSG00000110243
  
Related genetic diseases (OMIM): 144650 - Hyperchylomicronemia, late-onset, 144650
  145750 - {Hypertriglyceridemia, susceptibility to}, 145750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 apoa4aENSDARG00000101160Danio rerio
 apoa4b.1ENSDARG00000040298Danio rerio
 apoa4b.2ENSDARG00000094929Danio rerio
 apoa4b.2ENSDARG00000020866Danio rerio
 APOA5ENSGALG00000014368Gallus gallus
 Apoa5ENSMUSG00000032079Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APOA4 / P06727 / apolipoprotein A4ENSG0000011024424
APOA1 / P02647 / apolipoprotein A1ENSG0000011813715


Protein motifs (from Interpro)
Interpro ID Name
 IPR000074  Apolipoprotein A/E


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006641 triglyceride metabolic process IMP
 biological_processGO:0006695 cholesterol biosynthetic process IBA
 biological_processGO:0006869 lipid transport IDA
 biological_processGO:0010873 positive regulation of cholesterol esterification IBA
 biological_processGO:0010898 positive regulation of triglyceride catabolic process IDA
 biological_processGO:0010902 positive regulation of very-low-density lipoprotein particle remodeling IDA
 biological_processGO:0019216 regulation of lipid metabolic process TAS
 biological_processGO:0019433 triglyceride catabolic process IMP
 biological_processGO:0030300 regulation of intestinal cholesterol absorption IBA
 biological_processGO:0031102 neuron projection regeneration IBA
 biological_processGO:0033344 cholesterol efflux IBA
 biological_processGO:0033700 phospholipid efflux IBA
 biological_processGO:0034370 triglyceride-rich lipoprotein particle remodeling IEA
 biological_processGO:0034380 high-density lipoprotein particle assembly IBA
 biological_processGO:0042157 lipoprotein metabolic process IBA
 biological_processGO:0042246 tissue regeneration IEP
 biological_processGO:0042632 cholesterol homeostasis IDA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0043691 reverse cholesterol transport IBA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045723 positive regulation of fatty acid biosynthetic process IDA
 biological_processGO:0046470 phosphatidylcholine metabolic process IBA
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis TAS
 biological_processGO:0050996 positive regulation of lipid catabolic process IDA
 biological_processGO:0051006 positive regulation of lipoprotein lipase activity IDA
 biological_processGO:0055090 acylglycerol homeostasis IMP
 biological_processGO:0070328 triglyceride homeostasis IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0034361 very-low-density lipoprotein particle IDA
 cellular_componentGO:0034364 high-density lipoprotein particle IDA
 cellular_componentGO:0042627 chylomicron IEA
 cellular_componentGO:0072562 blood microparticle IBA
 molecular_functionGO:0005543 phospholipid binding IDA
 molecular_functionGO:0008047 enzyme activator activity IDA
 molecular_functionGO:0008201 heparin binding IDA
 molecular_functionGO:0008289 lipid binding IDA
 molecular_functionGO:0015485 cholesterol binding IBA
 molecular_functionGO:0017127 cholesterol transporter activity IBA
 molecular_functionGO:0019899 enzyme binding IDA
 molecular_functionGO:0031210 phosphatidylcholine binding IDA
 molecular_functionGO:0035473 lipase binding IPI
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IPI
 molecular_functionGO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity IBA
 molecular_functionGO:0060229 lipase activator activity IMP
 molecular_functionGO:0060230 lipoprotein lipase activator activity IDA
 molecular_functionGO:0070325 lipoprotein particle receptor binding IPI


Pathways (from Reactome)
Pathway description
PPARA activates gene expression
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Assembly of active LPL and LIPC lipase complexes
Chylomicron remodeling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0003233 Decreased HDL cholesterol 
Show

 HP:0003362 Increased plasma VLDL 
Show

 HP:0003563 Hypobetalipoproteinemia 
Show

 HP:0012238 Hyperchylomicronemia "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr