APOA1 (apolipoprotein A1)

2007-02-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
HPALP2,apo(a)
FUSION GENES

Other Information

Locus ID:

NCBI: 335
MIM: 107680
HGNC: 600
Ensembl: ENSG00000118137

Variants:

dbSNP: 335
ClinVar: 335
TCGA: ENSG00000118137
COSMIC: APOA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118137ENST00000236850P02647
ENSG00000118137ENST00000236850A0A024R3E3
ENSG00000118137ENST00000359492P02647
ENSG00000118137ENST00000359492A0A024R3E3
ENSG00000118137ENST00000375320P02647
ENSG00000118137ENST00000375320A0A024R3E3
ENSG00000118137ENST00000375323P02647
ENSG00000118137ENST00000375323A0A024R3E3
ENSG00000118137ENST00000375329F8W696

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
African trypanosomiasisKEGGko05143
Fat digestion and absorptionKEGGko04975
African trypanosomiasisKEGGhsa05143
Fat digestion and absorptionKEGGhsa04975
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Scavenging by Class B ReceptorsREACTOMER-HSA-3000471
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062
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
HDL-mediated lipid transportREACTOMER-HSA-194223
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
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA273PLTPGenePathwayassociated
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD19207029, 23119086
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD19207029, 23119086

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
152976752004Multiple rare alleles contribute to low plasma levels of HDL cholesterol.405
152976752004Multiple rare alleles contribute to low plasma levels of HDL cholesterol.405
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
153146902004Apolipoprotein A-I is a selective target for myeloperoxidase-catalyzed oxidation and functional impairment in subjects with cardiovascular disease.204
250031942014Pediatric Crohn disease patients exhibit specific ileal transcriptome and microbiome signature.141
206932802010Membrane curvature induction and tubulation are common features of synucleins and apolipoproteins.118
186219202008Anti-inflammatory apoA-I-mimetic peptides bind oxidized lipids with much higher affinity than human apoA-I.94
175264992007The structure of apolipoprotein A-I in high density lipoproteins.91
244641872014An abundant dysfunctional apolipoprotein A1 in human atheroma.91

Citation

Dessen P

APOA1 (apolipoprotein A1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43824/apoa1