APOA5 (apolipoprotein A5)

2014-11-01  

Identity

HGNC
APOA5
LOCATION
11q23.3
LOCUSID
116519
ALIAS
APOAV,RAP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 116519
MIM: 606368
HGNC: 17288
Ensembl: ENSG00000110243

Variants:

dbSNP: 116519
ClinVar: 116519
TCGA: ENSG00000110243
COSMIC: APOA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110243ENST00000227665Q6Q788
ENSG00000110243ENST00000227665A0A0B4RUS7
ENSG00000110243ENST00000433069A0A0B4RUS7
ENSG00000110243ENST00000433069C9JZZ0
ENSG00000110243ENST00000542499Q6Q788
ENSG00000110243ENST00000542499A0A0B4RUS7

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164742099MTTPGenePathwayassociated
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD19530961
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD17431185, 19056598, 19057464
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD19530961
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD17431185, 19056598, 19057464
PA450272lovastatinChemicalClinicalAnnotationassociatedPD19530961
PA451363simvastatinChemicalClinicalAnnotationassociatedPD19530961

References

Pubmed IDYearTitleCitations
381176142024Genetic variation in apolipoprotein A-V in hypertriglyceridemia.0
383318992024The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.0
381176142024Genetic variation in apolipoprotein A-V in hypertriglyceridemia.0
383318992024The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.0
368559132023Association of S19W polymorphism in APOA5 gene and serum lipid levels in patients with type 2 diabetic nephropathy.0
369211962023Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.0
375869122023Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.1
377683282023Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China.0
368559132023Association of S19W polymorphism in APOA5 gene and serum lipid levels in patients with type 2 diabetic nephropathy.0
369211962023Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.0
375869122023Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.1
377683282023Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China.0
195927052022PEA-15 engages in allosteric interactions using a common scaffold in a phosphorylation-dependent manner.24
352784102022Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses.1
354610932022Changes in adiposity modulate the APOA5 genetic effect on blood lipids: A longitudinal cohort study.1

Citation

Dessen P

APOA5 (apolipoprotein A5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60424/teaching-explorer/js/humanGenome