APOA1 (apolipoprotein A1) - Rat Genome Database
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Gene: APOA1 (apolipoprotein A1) Homo sapiens
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Symbol: APOA1
Name: apolipoprotein A1
RGD ID: 735962
HGNC Page HGNC
Description: Exhibits several functions, including amyloid-beta binding activity; cholesterol binding activity; and signaling receptor binding activity. Contributes to cholesterol transfer activity. Involved in several processes, including lipid homeostasis; lipid transport; and regulation of Rho protein signal transduction. Localizes to endocytic vesicle; spherical high-density lipoprotein particle; and very-low-density lipoprotein particle. Implicated in several diseases, including artery disease (multiple); familial hypercholesterolemia; familial visceral amyloidosis; non-alcoholic steatohepatitis; and systemic lupus erythematosus. Biomarker of several diseases, including artery disease (multiple); diabetes mellitus (multiple); end stage renal disease; liver disease (multiple); and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: apo(a); apo-AI; apoA-I; apolipoprotein A-I; HPALP2; MGC117399
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11116,835,751 - 116,837,950 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl11116,835,751 - 116,837,622 (-)EnsemblGRCh38hg38GRCh38
GRCh3811116,835,751 - 116,837,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711116,706,467 - 116,708,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,211,679 - 116,213,548 (-)NCBINCBI36hg18NCBI36
Celera11113,864,272 - 113,866,141 (-)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11112,638,728 - 112,640,597 (-)NCBIHuRef
CHM1_111116,591,219 - 116,593,418 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (EXP)
Acute Tubulointerstitial Nephritis  (IDA)
adenocarcinoma  (EXP)
Alzheimer's disease  (IEP,IMP)
Apolipoprotein A-I, Deficiency of  (IAGP)
arteriosclerosis  (IEA,ISO)
atherosclerosis  (IDA,IEP)
Behcet's disease  (EXP)
Budd-Chiari syndrome  (IEP)
cardiomyopathy  (IAGP)
cardiovascular system disease  (IEA)
cerebral amyloid angiopathy  (ISO)
Chemical and Drug Induced Liver Injury  (EXP)
cholangiocarcinoma  (IEP)
Chronic Hepatitis B  (IEP)
chronic kidney disease  (IAGP)
congestive heart failure  (IEP)
coronary artery disease  (EXP,IEA,IEP)
Death  (EXP)
Diabetic Cardiomyopathies  (EXP)
Diabetic Nephropathies  (IEP)
Drug Eruptions  (EXP)
Dwarfism  (IAGP)
Edema  (EXP)
end stage renal disease  (IEP,ISO)
Endotoxemia  (IDA,ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Familial Amyloid Polyneuropathies  (IAGP)
Familial Amyloidosis  (IEP)
Familial HDL Deficiency  (IAGP)
familial isolated deficiency of vitamin E  (EXP)
familial visceral amyloidosis  (IAGP)
fatty liver disease  (ISO)
hepatitis C  (IEP)
hepatoblastoma  (IEP)
hepatocellular carcinoma  (EXP,IEP)
human immunodeficiency virus infectious disease  (EXP)
Hypercholesterolemia  (IAGP)
Hyperlipoproteinemia Type II  (IAGP)
hypertension  (EXP,ISO)
hyperthyroidism  (ISO)
Hypertriglyceridemia  (IAGP)
Hypoalphalipoproteinemias  (IAGP)
hypolipoproteinemia  (IAGP)
Hypoproteinemia  (ISO)
Hypoxia  (EXP)
idiopathic pulmonary fibrosis  (IEP)
Inflammation  (EXP)
Kidney Reperfusion Injury  (IDA)
lipid metabolism disorder  (EXP)
liver cirrhosis  (IEP)
lung adenocarcinoma  (EXP)
Lung Neoplasms  (EXP)
major depressive disorder  (ISO)
membranous glomerulonephritis  (EXP)
Metabolic Syndrome  (IAGP,IEP)
multiple sclerosis  (IEP)
myocardial infarction  (IAGP,IDA,IEA)
nephrotic syndrome  (ISO)
non-alcoholic fatty liver disease  (ISO)
non-alcoholic steatohepatitis  (IMP,ISO)
obesity  (IEP,ISO)
ocular hypertension  (ISO)
pancreatic cancer  (IEP)
Parkinson's disease  (IEP)
Pediatric Obesity  (EXP)
polycystic kidney disease  (ISO)
pulmonary fibrosis  (ISO)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
Stomach Neoplasms  (EXP)
Stroke  (EXP)
systemic lupus erythematosus  (IDA,ISO)
Tangier disease  (IAGP)
transitional cell carcinoma  (IEP,ISO)
Transplant Rejection  (IEP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-tocopherol  (EXP,ISO)
(+)-taxifolin  (EXP)
(-)-ephedrine  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-bromohexadecanoic acid  (ISO)
26-hydroxycholesterol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arachidonic acid  (EXP)
atenolol  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bezafibrate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caesium atom  (ISO)
caffeine  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
cholesterol  (EXP,ISO)
choline  (ISO)
chromium atom  (EXP)
chromium trinitrate  (ISO)
chromium(6+)  (ISO)
ciprofibrate  (EXP)
cisplatin  (ISO)
clofibrate  (EXP,ISO)
Clofop  (ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cyproterone acetate  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
diethyl phthalate  (EXP)
dimethyl sulfoxide  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
ezetimibe  (EXP)
fenofibrate  (EXP,ISO)
fingolimod hydrochloride  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
gemfibrozil  (EXP,ISO)
genistein  (ISO)
ginsenoside Rf  (ISO)
glucose  (ISO)
glutathione  (ISO)
glyburide  (EXP)
glycerol  (EXP)
glycidol  (ISO)
glycolaldehyde  (ISO)
glyoxal  (ISO)
GW 4064  (EXP,ISO)
GW 501516  (EXP,ISO)
GW 7647  (EXP)
high-density lipoprotein cholesterol  (EXP,ISO)
homocysteine  (EXP)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linalool  (EXP)
linoleic acid  (EXP)
lipopolysaccharide  (EXP,ISO)
lovastatin  (EXP)
mastoparan  (EXP)
menadione  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
Nandrolone decanoate  (EXP)
nevirapine  (EXP)
nickel atom  (EXP)
nicotinic acid  (EXP,ISO)
nifedipine  (EXP)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
olanzapine  (EXP)
oleic acid  (EXP)
p-menthan-3-ol  (ISO)
palmitoleic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (EXP)
PCB138  (EXP)
pentetic acid  (EXP)
perfluorobutyric acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (EXP,ISO)
Polyoxyethylene dioleate  (EXP)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
probucol  (ISO)
propanal  (EXP)
prostaglandin E2  (ISO)
prostaglandin J2  (EXP)
Ptaquiloside  (ISO)
pyrazinecarboxamide  (ISO)
pyrogallol  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
resveratrol  (EXP)
rosuvastatin calcium  (EXP)
rotenone  (ISO)
salicylates  (EXP)
sarin  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
stigmasterol  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
taurocholic acid  (EXP)
tauroursodeoxycholic acid  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
tolcapone  (ISO)
Triptolide  (ISO)
U-73122  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vitamin E  (EXP,ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA,ISO)
amyloid fibril formation  (TAS)
animal organ regeneration  (IEA,ISO)
axon regeneration  (ISO)
blood vessel endothelial cell migration  (IEA,ISO)
cellular protein metabolic process  (TAS)
cholesterol biosynthetic process  (IBA,ISO)
cholesterol efflux  (IBA,IDA,IMP,ISO)
cholesterol homeostasis  (IBA,IDA,IMP)
cholesterol import  (IMP)
cholesterol metabolic process  (IMP,ISO)
cholesterol transport  (IDA,ISO)
chylomicron assembly  (TAS)
chylomicron remodeling  (TAS)
endothelial cell proliferation  (IEA,ISO)
ERK1 and ERK2 cascade  (IDA)
G protein-coupled receptor signaling pathway  (IDA)
glucocorticoid metabolic process  (IEA,ISO)
high-density lipoprotein particle assembly  (IBA,IDA,TAS)
high-density lipoprotein particle clearance  (IC,TAS)
high-density lipoprotein particle remodeling  (IC,IDA,TAS)
integrin-mediated signaling pathway  (IDA)
intermembrane lipid transfer  (IEA)
lipid storage  (IEA,ISO)
lipid transport  (IEA,TAS)
lipoprotein biosynthetic process  (IEA,ISO)
lipoprotein metabolic process  (IBA,IEA)
negative chemotaxis  (IDA)
negative regulation of cell adhesion molecule production  (IDA)
negative regulation of cytokine production involved in immune response  (IDA)
negative regulation of heterotypic cell-cell adhesion  (IDA)
negative regulation of hydrolase activity  (ISO)
negative regulation of inflammatory response  (IDA)
negative regulation of interleukin-1 beta production  (IDA)
negative regulation of lipase activity  (IEA,ISO)
negative regulation of response to cytokine stimulus  (IDA)
negative regulation of tumor necrosis factor-mediated signaling pathway  (IDA)
negative regulation of very-low-density lipoprotein particle remodeling  (IDA)
peptidyl-methionine modification  (IDA)
peripheral nervous system axon regeneration  (IEA,ISO)
phosphatidylcholine biosynthetic process  (IDA)
phosphatidylcholine metabolic process  (IBA)
phospholipid efflux  (IBA,IDA)
phospholipid homeostasis  (IDA)
phospholipid metabolic process  (ISO)
phospholipid transport  (ISO)
platelet degranulation  (TAS)
positive regulation of cholesterol efflux  (IDA)
positive regulation of cholesterol esterification  (IBA,IDA)
positive regulation of fatty acid biosynthetic process  (IBA)
positive regulation of hydrolase activity  (IDA)
positive regulation of lipid biosynthetic process  (IBA)
positive regulation of lipoprotein lipase activity  (IBA)
positive regulation of phagocytosis  (IDA)
positive regulation of phospholipid efflux  (IDA)
positive regulation of Rho protein signal transduction  (IDA)
positive regulation of stress fiber assembly  (IDA)
positive regulation of substrate adhesion-dependent cell spreading  (IDA)
positive regulation of triglyceride catabolic process  (IBA)
post-translational protein modification  (TAS)
protein localization  (ISO)
protein oxidation  (IDA)
protein stabilization  (IDA)
receptor-mediated endocytosis  (TAS)
regulation of Cdc42 protein signal transduction  (IDA)
regulation of intestinal cholesterol absorption  (IBA,ISO)
regulation of metabolic process  (TAS)
regulation of protein phosphorylation  (IEA,ISO)
response to drug  (IEA,ISO)
response to estrogen  (IEA,ISO)
response to nutrient  (IEA,ISO)
retinoid metabolic process  (TAS)
reverse cholesterol transport  (IBA,IMP)
transforming growth factor beta receptor signaling pathway  (IDA)
triglyceride homeostasis  (IBA,IDA)
very-low-density lipoprotein particle remodeling  (IBA)
vitamin transport  (IMP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
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Additional References at PubMed
PMID:164450   PMID:190223   PMID:204308   PMID:210174   PMID:1076467   PMID:1502149   PMID:1587806   PMID:1644835   PMID:1723385   PMID:1808634   PMID:1898657   PMID:2107878  
PMID:2108924   PMID:2111322   PMID:2123470   PMID:2506176   PMID:2506184   PMID:2512329   PMID:2673706   PMID:2687158   PMID:2995392   PMID:3005308   PMID:3047170   PMID:3104518  
PMID:3119665   PMID:3120314   PMID:3129297   PMID:3142880   PMID:3931073   PMID:4335615   PMID:4345202   PMID:6198645   PMID:6207999   PMID:6294659   PMID:6304641   PMID:6308458  
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PMID:15751988   PMID:15766290   PMID:15782489   PMID:15805548   PMID:15823278   PMID:15849246   PMID:15868628   PMID:15882068   PMID:15900219   PMID:15910632   PMID:15922294   PMID:15925353  
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PMID:16497665   PMID:16502470   PMID:16520487   PMID:16542392   PMID:16545386   PMID:16574896   PMID:16671566   PMID:16682745   PMID:16698792   PMID:16705465   PMID:16710093   PMID:16763159  
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PMID:19217440   PMID:19218819   PMID:19237735   PMID:19239199   PMID:19242900   PMID:19258317   PMID:19285487   PMID:19304335   PMID:19318685   PMID:19324878   PMID:19324996   PMID:19327233  
PMID:19336370   PMID:19336475   PMID:19339807   PMID:19372457   PMID:19408098   PMID:19433579   PMID:19473658   PMID:19481824   PMID:19528336   PMID:19551315   PMID:19558216   PMID:19578796  
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PMID:30004304   PMID:30004693   PMID:30024968   PMID:30092227   PMID:30096856   PMID:30097533   PMID:30119683   PMID:30132720   PMID:30184436   PMID:30249788   PMID:30328580   PMID:30343478  
PMID:30367981   PMID:30458687   PMID:30467071   PMID:30488199   PMID:30509867   PMID:30510601   PMID:30556889   PMID:30635405   PMID:30659061   PMID:30718702   PMID:30821416   PMID:30858459  
PMID:30970222   PMID:30971477   PMID:30996342   PMID:31003938   PMID:31180492   PMID:31184614   PMID:31188743   PMID:31211449   PMID:31270237   PMID:31343991   PMID:31391051   PMID:31401190  
PMID:31482740   PMID:31678510   PMID:31682461   PMID:31765698   PMID:31779197   PMID:31783518   PMID:31863971   PMID:31904503   PMID:31945064   PMID:31952546   PMID:31980684   PMID:31992359  
PMID:32092318   PMID:32189309   PMID:32194045   PMID:32282500   PMID:32296183   PMID:32418956   PMID:32810603   PMID:32814053   PMID:32919081   PMID:32946930   PMID:32950994  


Genomics

Comparative Map Data
APOA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11116,835,751 - 116,837,950 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl11116,835,751 - 116,837,622 (-)EnsemblGRCh38hg38GRCh38
GRCh3811116,835,751 - 116,837,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711116,706,467 - 116,708,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,211,679 - 116,213,548 (-)NCBINCBI36hg18NCBI36
Celera11113,864,272 - 113,866,141 (-)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11112,638,728 - 112,640,597 (-)NCBIHuRef
CHM1_111116,591,219 - 116,593,418 (-)NCBICHM1_1
Apoa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39946,139,928 - 46,141,767 (+)NCBIGRCm39mm39
GRCm39 Ensembl946,139,878 - 46,141,764 (+)Ensembl
GRCm38946,228,630 - 46,230,469 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl946,228,580 - 46,230,466 (+)EnsemblGRCm38mm10GRCm38
MGSCv37946,036,713 - 46,038,549 (+)NCBIGRCm37mm9NCBIm37
MGSCv36945,979,705 - 45,981,461 (+)NCBImm8
Celera943,517,584 - 43,519,420 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.36NCBI
Apoa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2846,527,251 - 46,529,035 (+)NCBI
Rnor_6.0 Ensembl850,525,091 - 50,526,875 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0850,525,091 - 50,526,875 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0849,151,163 - 49,152,947 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera846,109,311 - 46,111,065 (+)NCBICelera
RH 3.4 Map8472.0RGD
Cytogenetic Map8q22NCBI
Apoa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,170,331 - 18,172,298 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,170,331 - 18,172,298 (-)NCBIChiLan1.0ChiLan1.0
APOA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111115,606,136 - 115,608,335 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,606,136 - 115,608,122 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011111,673,539 - 111,675,428 (-)NCBIMhudiblu_PPA_v0panPan3
APOA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl516,740,130 - 16,741,943 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1516,740,071 - 16,742,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Apoa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365422,111,055 - 2,112,626 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,216,393 - 44,218,978 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,216,481 - 44,218,360 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,288,730 - 49,290,611 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap9p12-p11NCBI
APOA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,201,967 - 108,203,902 (-)NCBI
ChlSab1.1 Ensembl1108,201,439 - 108,203,609 (-)Ensembl
Apoa1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478412,249,283 - 12,251,215 (-)NCBI

Position Markers
RH1581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,632 - 116,706,854UniSTSGRCh37
Build 3611116,211,842 - 116,212,064RGDNCBI36
Celera11113,864,435 - 113,864,657RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,638,891 - 112,639,113UniSTS
G44357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,318 - 116,708,500UniSTSGRCh37
Build 3611116,213,528 - 116,213,710RGDNCBI36
Celera11113,866,121 - 113,866,303RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,577 - 112,640,759UniSTS
GDB:182584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,336 - 116,708,594UniSTSGRCh37
Build 3611116,213,546 - 116,213,804RGDNCBI36
Celera11113,866,139 - 113,866,397RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,595 - 112,640,853UniSTS
GDB:374151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,307 - 116,708,710UniSTSGRCh37
Build 3611116,213,517 - 116,213,920RGDNCBI36
Celera11113,866,110 - 113,866,513RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,566 - 112,640,969UniSTS
GDB:434790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,623 - 116,707,766UniSTSGRCh37
Build 3611116,212,833 - 116,212,976RGDNCBI36
Celera11113,865,426 - 113,865,569RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,882 - 112,640,025UniSTS
ECD02000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,318 - 116,709,163UniSTSGRCh37
Build 3611116,213,528 - 116,214,373RGDNCBI36
Celera11113,866,121 - 113,866,966RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,577 - 112,641,422UniSTS
ECD02278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,522 - 116,707,357UniSTSGRCh37
Build 3611116,211,732 - 116,212,567RGDNCBI36
Celera11113,864,325 - 113,865,160RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,638,781 - 112,639,616UniSTS
ECD03090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,417 - 116,708,223UniSTSGRCh37
Build 3611116,212,627 - 116,213,433RGDNCBI36
Celera11113,865,220 - 113,866,026RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,676 - 112,640,482UniSTS
REN72933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,710,045 - 116,710,291UniSTSGRCh37
Build 3611116,215,255 - 116,215,501RGDNCBI36
Celera11113,867,848 - 113,868,096RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,642,304 - 112,642,552UniSTS
REN72934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,709,818 - 116,710,042UniSTSGRCh37
Build 3611116,215,028 - 116,215,252RGDNCBI36
Celera11113,867,621 - 113,867,845RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,642,077 - 112,642,301UniSTS
REN72935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,709,576 - 116,709,810UniSTSGRCh37
Build 3611116,214,786 - 116,215,020RGDNCBI36
Celera11113,867,379 - 113,867,613RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,641,835 - 112,642,069UniSTS
REN72936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,709,321 - 116,709,568UniSTSGRCh37
Build 3611116,214,531 - 116,214,778RGDNCBI36
Celera11113,867,124 - 113,867,371RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,641,580 - 112,641,827UniSTS
REN72937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,709,089 - 116,709,319UniSTSGRCh37
Build 3611116,214,299 - 116,214,529RGDNCBI36
Celera11113,866,892 - 113,867,122RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,641,348 - 112,641,578UniSTS
REN72938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,844 - 116,709,099UniSTSGRCh37
Build 3611116,214,054 - 116,214,309RGDNCBI36
Celera11113,866,647 - 113,866,902RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,641,103 - 112,641,358UniSTS
REN72939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,600 - 116,708,849UniSTSGRCh37
Build 3611116,213,810 - 116,214,059RGDNCBI36
Celera11113,866,403 - 113,866,652RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,859 - 112,641,108UniSTS
REN72940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,351 - 116,708,580UniSTSGRCh37
Build 3611116,213,561 - 116,213,790RGDNCBI36
Celera11113,866,154 - 113,866,383RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,610 - 112,640,839UniSTS
REN72941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,119 - 116,708,368UniSTSGRCh37
Build 3611116,213,329 - 116,213,578RGDNCBI36
Celera11113,865,922 - 113,866,171RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,378 - 112,640,627UniSTS
REN72942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,877 - 116,708,113UniSTSGRCh37
Build 3611116,213,087 - 116,213,323RGDNCBI36
Celera11113,865,680 - 113,865,916RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,640,136 - 112,640,372UniSTS
REN72943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,643 - 116,707,869UniSTSGRCh37
Build 3611116,212,853 - 116,213,079RGDNCBI36
Celera11113,865,446 - 113,865,672RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,902 - 112,640,128UniSTS
REN72944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,402 - 116,707,643UniSTSGRCh37
Build 3611116,212,612 - 116,212,853RGDNCBI36
Celera11113,865,205 - 113,865,446RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,661 - 112,639,902UniSTS
REN72945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,707,173 - 116,707,407UniSTSGRCh37
Build 3611116,212,383 - 116,212,617RGDNCBI36
Celera11113,864,976 - 113,865,210RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,432 - 112,639,666UniSTS
REN72946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,928 - 116,707,157UniSTSGRCh37
Build 3611116,212,138 - 116,212,367RGDNCBI36
Celera11113,864,731 - 113,864,960RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,639,187 - 112,639,416UniSTS
REN72947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,699 - 116,706,942UniSTSGRCh37
Build 3611116,211,909 - 116,212,152RGDNCBI36
Celera11113,864,502 - 113,864,745RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,638,958 - 112,639,201UniSTS
REN72948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,467 - 116,706,696UniSTSGRCh37
GRCh3711116,706,467 - 116,707,650UniSTSGRCh37
Build 3611116,211,677 - 116,211,906RGDNCBI36
Celera11113,864,270 - 113,864,499RGD
Celera11113,864,270 - 113,865,453UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13UniSTS
HuRef11112,638,726 - 112,638,955UniSTS
REN72949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,240 - 116,706,465UniSTSGRCh37
Build 3611116,211,450 - 116,211,675RGDNCBI36
Celera11113,864,043 - 113,864,268RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,638,499 - 112,638,724UniSTS
REN72950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,705,973 - 116,706,224UniSTSGRCh37
Build 3611116,211,183 - 116,211,434RGDNCBI36
Celera11113,863,776 - 113,864,027RGD
Cytogenetic Map11q23-q24UniSTS
HuRef11112,638,232 - 112,638,483UniSTS
stSG601816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,988 - 116,708,223UniSTSGRCh37
Build 3611116,212,198 - 116,213,433RGDNCBI36
Celera11113,864,791 - 113,866,026RGD
HuRef11112,639,247 - 112,640,482UniSTS
stSG601817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,708,204 - 116,709,454UniSTSGRCh37
Build 3611116,213,414 - 116,214,664RGDNCBI36
Celera11113,866,007 - 113,867,257RGD
HuRef11112,640,463 - 112,641,713UniSTS
RH11465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,706,477 - 116,706,585UniSTSGRCh37
Build 3611116,211,687 - 116,211,795RGDNCBI36
Celera11113,864,280 - 113,864,388RGD
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13UniSTS
HuRef11112,638,736 - 112,638,844UniSTS
GeneMap99-GB4 RH Map11373.38UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1608
Count of miRNA genes:318
Interacting mature miRNAs:325
Transcripts:ENST00000236850, ENST00000359492, ENST00000375320, ENST00000375323, ENST00000375329
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 37 1 417 417 31 417 23
Medium 223 369 75 24 109 24 380 238 309 21 628 44 12 295
Low 1411 1616 1102 72 765 12 1526 1002 2404 130 572 1291 62 616 969 2 1
Below cutoff 734 964 129 105 723 12 2304 908 982 202 201 214 101 565 1450 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A14829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A15879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL531353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL557908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY422952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY555191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU600916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD558050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX438706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S65238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T68127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000236850   ⟹   ENSP00000236850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,950 (-)Ensembl
RefSeq Acc Id: ENST00000359492   ⟹   ENSP00000352471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,609 (-)Ensembl
RefSeq Acc Id: ENST00000375320   ⟹   ENSP00000364469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,586 (-)Ensembl
RefSeq Acc Id: ENST00000375323   ⟹   ENSP00000364472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,614 (-)Ensembl
RefSeq Acc Id: ENST00000375329   ⟹   ENSP00000364478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,610 (-)Ensembl
RefSeq Acc Id: NM_000039   ⟹   NP_000030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,622 (-)NCBI
GRCh3711116,706,467 - 116,708,338 (-)NCBI
Build 3611116,211,679 - 116,213,548 (-)NCBI Archive
HuRef11112,638,728 - 112,640,597 (-)ENTREZGENE
CHM1_111116,591,219 - 116,593,418 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318017   ⟹   NP_001304946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,622 (-)NCBI
CHM1_111116,591,219 - 116,593,054 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318018   ⟹   NP_001304947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,622 (-)NCBI
CHM1_111116,591,219 - 116,593,077 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318021   ⟹   NP_001304950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,950 (-)NCBI
CHM1_111116,591,219 - 116,593,418 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000030 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304946 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304947 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304950 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35545 (Get FASTA)   NCBI Sequence Viewer  
  AAA51746 (Get FASTA)   NCBI Sequence Viewer  
  AAA51747 (Get FASTA)   NCBI Sequence Viewer  
  AAA62829 (Get FASTA)   NCBI Sequence Viewer  
  AAB59514 (Get FASTA)   NCBI Sequence Viewer  
  AAD34604 (Get FASTA)   NCBI Sequence Viewer  
  AAH05380 (Get FASTA)   NCBI Sequence Viewer  
  AAI10287 (Get FASTA)   NCBI Sequence Viewer  
  AAL92035 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91811 (Get FASTA)   NCBI Sequence Viewer  
  AAS68227 (Get FASTA)   NCBI Sequence Viewer  
  ACA05932 (Get FASTA)   NCBI Sequence Viewer  
  ACA05933 (Get FASTA)   NCBI Sequence Viewer  
  ACA05934 (Get FASTA)   NCBI Sequence Viewer  
  ACA05935 (Get FASTA)   NCBI Sequence Viewer  
  ACA05936 (Get FASTA)   NCBI Sequence Viewer  
  ADO22247 (Get FASTA)   NCBI Sequence Viewer  
  AFU51373 (Get FASTA)   NCBI Sequence Viewer  
  BAF84920 (Get FASTA)   NCBI Sequence Viewer  
  CAA01198 (Get FASTA)   NCBI Sequence Viewer  
  CAA01253 (Get FASTA)   NCBI Sequence Viewer  
  CAA25232 (Get FASTA)   NCBI Sequence Viewer  
  CAA25519 (Get FASTA)   NCBI Sequence Viewer  
  CAA26097 (Get FASTA)   NCBI Sequence Viewer  
  CAA30377 (Get FASTA)   NCBI Sequence Viewer  
  EAW67274 (Get FASTA)   NCBI Sequence Viewer  
  EAW67275 (Get FASTA)   NCBI Sequence Viewer  
  EAW67276 (Get FASTA)   NCBI Sequence Viewer  
  EAW67277 (Get FASTA)   NCBI Sequence Viewer  
  P02647 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000030   ⟸   NM_000039
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P02647 (UniProtKB/Swiss-Prot),   A0A024R3E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304950   ⟸   NM_001318021
- Peptide Label: isoform 2
- UniProtKB: P02647 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304947   ⟸   NM_001318018
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P02647 (UniProtKB/Swiss-Prot),   A0A024R3E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304946   ⟸   NM_001318017
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P02647 (UniProtKB/Swiss-Prot),   A0A024R3E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352471   ⟸   ENST00000359492
RefSeq Acc Id: ENSP00000364469   ⟸   ENST00000375320
RefSeq Acc Id: ENSP00000364472   ⟸   ENST00000375323
RefSeq Acc Id: ENSP00000364478   ⟸   ENST00000375329
RefSeq Acc Id: ENSP00000236850   ⟸   ENST00000236850

Promoters
RGD ID:7222221
Promoter ID:EPDNEW_H16856
Type:initiation region
Name:APOA1_1
Description:apolipoprotein A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,837,622 - 116,837,682EPDNEW
RGD ID:6849568
Promoter ID:EP30021
Type:single initiation site
Name:HS_APOA1
Description:Apolipoprotein AI.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 167; Mammalian apolipoprotein AI.
Tissues & Cell Lines:liver, intestine
Experiment Methods:Sequencing of a full-length cDNA; Nuclease protection; transfected or transformed cells
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000039.2(APOA1):c.162G>C (p.Val54=) single nucleotide variant Cardiomyopathy [RCV000029340] Chr11:116837039 [GRCh38]
Chr11:116707755 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.2(APOA1):c.589C>T (p.Arg197Cys) single nucleotide variant APOLIPOPROTEIN A-I (MILANO) [RCV000019498] Chr11:116836023 [GRCh38]
Chr11:116706739 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.500C>G (p.Pro167Arg) single nucleotide variant APOLIPOPROTEIN A-I (GIESSEN) [RCV000019499] Chr11:116836112 [GRCh38]
Chr11:116706828 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.391A>T (p.Lys131Ter) single nucleotide variant APOLIPOPROTEIN A-I (MARBURG) [RCV000019500] Chr11:116836221 [GRCh38]
Chr11:116706937 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.664G>A (p.Glu222Lys) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER4) [RCV000019501] Chr11:116835948 [GRCh38]
Chr11:116706664 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.478G>A (p.Glu160Lys) single nucleotide variant APOLIPOPROTEIN A-I (NORWAY) [RCV000019502] Chr11:116836134 [GRCh38]
Chr11:116706850 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.80C>G (p.Pro27Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3C) [RCV000019503] Chr11:116837121 [GRCh38]
Chr11:116707837 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.83C>G (p.Pro28Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3B) [RCV000019504] Chr11:116837118 [GRCh38]
Chr11:116707834 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.566C>G (p.Pro189Arg) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019505] Chr11:116836046 [GRCh38]
Chr11:116706762 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.148G>C (p.Gly50Arg) single nucleotide variant Familial amyloid polyneuropathy, Iowa type [RCV000019506] Chr11:116837053 [GRCh38]
Chr11:116707769 [GRCh37]
Chr11:11q23.3
pathogenic
APOA1, APOA1/APOC3 FUSION variation Apolipoproteins a-i and c-iii, combined deficiency of [RCV000019509]|High density lipoprotein deficiency, Detroit type [RCV000019510] Chr11:11q23 pathogenic
APOA1, DEL deletion Apolipoprotein A-I deficiency [RCV000019512] Chr11:11q23 pathogenic
NM_000039.2(APOA1):c.101G>T (p.Arg34Leu) single nucleotide variant APOLIPOPROTEIN A-I (BALTIMORE) [RCV000019513] Chr11:116837100 [GRCh38]
Chr11:116707816 [GRCh37]
Chr11:11q23.3
pathogenic
APOA1, 1-BP DEL, CODON 202 deletion Apolipoprotein A-I deficiency [RCV000019514] Chr11:11q23 pathogenic
NM_001318021.1(APOA1):c.-6C>T single nucleotide variant Apolipoprotein A-I deficiency [RCV000019515] Chr11:116836290 [GRCh38]
Chr11:116707006 [GRCh37]
Chr11:11q23.3
pathogenic
NM_001318021.1(APOA1):c.-77T>G single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019516] Chr11:116836361 [GRCh38]
Chr11:116707077 [GRCh37]
Chr11:11q23.3
pathogenic
NM_001318021.1(APOA1):c.-240-21C>T single nucleotide variant Tangier disease [RCV000019517] Chr11:116837134 [GRCh38]
Chr11:116707850 [GRCh37]
Chr11:11q23.3
pathogenic
APOA1, 1-BP INS insertion Familial hypoalphalipoproteinemia [RCV000019518] Chr11:11q23 pathogenic
NM_001318021.1(APOA1):c.-162C>T single nucleotide variant Apolipoprotein A-I deficiency [RCV000019519] Chr11:116837035 [GRCh38]
Chr11:116707751 [GRCh37]
Chr11:11q23.3
pathogenic
APOA1, 12-BP DEL AND 2-BP INS indel Familial visceral amyloidosis, Ostertag type [RCV000019520] Chr11:11q23 pathogenic
NM_001318021.1(APOA1):c.-108T>C single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019521] Chr11:116836392 [GRCh38]
Chr11:116707108 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.539T>A (p.Val180Glu) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019522] Chr11:116836073 [GRCh38]
Chr11:116706789 [GRCh37]
Chr11:11q23.3
pathogenic
APOA1, IVS2, G-C, +1 single nucleotide variant Hypoalphalipoproteinemia, primary, 2 [RCV000019523] Chr11:11q23 pathogenic
NM_000039.2(APOA1):c.341T>C (p.Leu114Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019524] Chr11:116836271 [GRCh38]
Chr11:116706987 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.518G>C (p.Arg173Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019525] Chr11:116836094 [GRCh38]
Chr11:116706810 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.593T>C (p.Leu198Ser) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019526] Chr11:116836019 [GRCh38]
Chr11:116706735 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.595G>C (p.Ala199Pro) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019527] Chr11:116836017 [GRCh38]
Chr11:116706733 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.524_535dup (p.175_176RA[4]) duplication not provided [RCV000722905] Chr11:116836076..116836077 [GRCh38]
Chr11:116706792..116706793 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3 copy number gain See cases [RCV000140064] Chr11:116801587..116880319 [GRCh38]
Chr11:116672303..116751035 [GRCh37]
Chr11:116177513..116256245 [NCBI36]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000039.2(APOA1):c.454G>A (p.Glu152Lys) single nucleotide variant Familial High Density Lipoprotein Deficiency [RCV000337002]|Familial visceral amyloidosis, Ostertag type [RCV000284267] Chr11:116836158 [GRCh38]
Chr11:116706874 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.2(APOA1):c.-11G>A single nucleotide variant Familial hypoalphalipoproteinemia [RCV000321194]|Familial visceral amyloidosis, Ostertag type [RCV000268463] Chr11:116837398 [GRCh38]
Chr11:116708114 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.2(APOA1):c.498C>A (p.Ser166Arg) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000382429]|Familial visceral amyloidosis, Ostertag type [RCV000285625] Chr11:116836114 [GRCh38]
Chr11:116706830 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_000039.2(APOA1):c.480G>T (p.Glu160Asp) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000376483]|Familial visceral amyloidosis, Ostertag type [RCV000324251] Chr11:116836132 [GRCh38]
Chr11:116706848 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.2(APOA1):c.28G>A (p.Val10Met) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000365762]|Familial visceral amyloidosis, Ostertag type [RCV000268859] Chr11:116837360 [GRCh38]
Chr11:116708076 [GRCh37]
Chr11:11q23.3
benign|uncertain significance
NM_000039.2(APOA1):c.9T>C (p.Ala3=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000360809]|Familial visceral amyloidosis, Ostertag type [RCV000327031] Chr11:116837379 [GRCh38]
Chr11:116708095 [GRCh37]
Chr11:11q23.3
benign|uncertain significance
NM_000039.2(APOA1):c.562G>T (p.Ala188Ser) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000328973]|Familial visceral amyloidosis, Ostertag type [RCV001105372]|not specified [RCV001193575] Chr11:116836050 [GRCh38]
Chr11:116706766 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000039.2(APOA1):c.732C>G (p.Pro244=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000271540]|Familial visceral amyloidosis, Ostertag type [RCV000368370]|not provided [RCV000905548]|not specified [RCV000779742] Chr11:116835880 [GRCh38]
Chr11:116706596 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000039.2(APOA1):c.116C>T (p.Ala39Val) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000308803]|Familial visceral amyloidosis, Ostertag type [RCV000398922] Chr11:116837085 [GRCh38]
Chr11:116707801 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.2(APOA1):c.168G>A (p.Gln56=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000367038]|Familial visceral amyloidosis, Ostertag type [RCV000314646] Chr11:116837033 [GRCh38]
Chr11:116707749 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.2(APOA1):c.*19C>G single nucleotide variant Familial hypoalphalipoproteinemia [RCV000277267]|Familial visceral amyloidosis, Ostertag type [RCV000330090] Chr11:116835789 [GRCh38]
Chr11:116706505 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000039.2(APOA1):c.284T>A (p.Phe95Tyr) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000278412]|Familial visceral amyloidosis, Ostertag type [RCV000396000]|not specified [RCV001269105] Chr11:116836328 [GRCh38]
Chr11:116707044 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.2(APOA1):c.181G>A (p.Ala61Thr) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000335636]|Familial visceral amyloidosis, Ostertag type [RCV000395998]|not provided [RCV000892083]|not specified [RCV000779744] Chr11:116837020 [GRCh38]
Chr11:116707736 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_001318021.1(APOA1):c.-240-9dup duplication Familial hypoalphalipoproteinemia [RCV000019518]|not provided [RCV000599012] Chr11:116837115..116837116 [GRCh38]
Chr11:116707831..116707832 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000039.2(APOA1):c.524_525GC[6] (p.His179fs) microsatellite not provided [RCV000684747] Chr11:116836078..116836079 [GRCh38]
Chr11:116706794..116706795 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000039.2(APOA1):c.41C>T (p.Thr14Met) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001108700]|Familial visceral amyloidosis, Ostertag type [RCV001108699]|not specified [RCV000779743] Chr11:116837347 [GRCh38]
Chr11:116708063 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.2(APOA1):c.388_390AAG[1] (p.Lys131del) microsatellite Chronic kidney disease [RCV001171337]|Familial visceral amyloidosis, Ostertag type [RCV001262205]|not provided [RCV000788861] Chr11:116836219..116836221 [GRCh38]
Chr11:116706935..116706937 [GRCh37]
Chr11:11q23.3
pathogenic|uncertain significance
NM_000039.3(APOA1):c.447G>A (p.Glu149=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001106511]|Familial visceral amyloidosis, Ostertag type [RCV001106512] Chr11:116836165 [GRCh38]
Chr11:116706881 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001106514]|Familial visceral amyloidosis, Ostertag type [RCV001106513] Chr11:116837023 [GRCh38]
Chr11:116707739 [GRCh37]
Chr11:11q23.3
benign
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001105371]|Familial visceral amyloidosis, Ostertag type [RCV001105370] Chr11:116835935 [GRCh38]
Chr11:116706651 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001108698]|Familial visceral amyloidosis, Ostertag type [RCV001108697] Chr11:116837074 [GRCh38]
Chr11:116707790 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.2(APOA1):c.327G>A (p.Glu109=) single nucleotide variant not provided [RCV000910068] Chr11:116836285 [GRCh38]
Chr11:116707001 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.3(APOA1):c.705C>G (p.Leu235=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV001103451]|Familial visceral amyloidosis, Ostertag type [RCV001103452] Chr11:116835907 [GRCh38]
Chr11:116706623 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.2(APOA1):c.483G>C (p.Leu161=) single nucleotide variant not provided [RCV000934589] Chr11:116836129 [GRCh38]
Chr11:116706845 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.3(APOA1):c.-29G>A single nucleotide variant Familial hypoalphalipoproteinemia [RCV001103534]|Familial visceral amyloidosis, Ostertag type [RCV001103535] Chr11:116837613 [GRCh38]
Chr11:116708329 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.3(APOA1):c.625G>A (p.Gly209Ser) single nucleotide variant Chronic kidney disease [RCV001171350] Chr11:116835987 [GRCh38]
Chr11:116706703 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000039.3(APOA1):c.*17C>T single nucleotide variant Familial hypoalphalipoproteinemia [RCV001103450]|Familial visceral amyloidosis, Ostertag type [RCV001103449] Chr11:116835791 [GRCh38]
Chr11:116706507 [GRCh37]
Chr11:11q23.3
likely benign
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) single nucleotide variant not specified [RCV001193576] Chr11:116837043 [GRCh38]
Chr11:116707759 [GRCh37]
Chr11:11q23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:600 AgrOrtholog
COSMIC APOA1 COSMIC
Ensembl Genes ENSG00000118137 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000236850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000352471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364469 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364472 UniProtKB/Swiss-Prot
  ENSP00000364478 UniProtKB/TrEMBL
Ensembl Transcript ENST00000236850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000359492 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375320 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375323 UniProtKB/Swiss-Prot
  ENST00000375329 UniProtKB/TrEMBL
GTEx ENSG00000118137 GTEx
HGNC ID HGNC:600 ENTREZGENE
Human Proteome Map APOA1 Human Proteome Map
InterPro ApoA_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 335 ENTREZGENE
OMIM 105200 OMIM
  107680 OMIM
  618463 OMIM
Pfam Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB APOA1 RGD, PharmGKB
UniProt A0A024R3E3 ENTREZGENE, UniProtKB/TrEMBL
  APOA1_HUMAN UniProtKB/Swiss-Prot
  F8W696_HUMAN UniProtKB/TrEMBL
  P02647 ENTREZGENE
  Q6LEJ8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K866 UniProtKB/Swiss-Prot
  Q6LDN9 UniProtKB/Swiss-Prot
  Q6Q785 UniProtKB/Swiss-Prot
  Q9UCS8 UniProtKB/Swiss-Prot
  Q9UCT8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 APOA1  apolipoprotein A1    apolipoprotein A-I  Symbol and/or name change 5135510 APPROVED
2011-08-16 APOA1  apolipoprotein A-I  APOA1  apolipoprotein A-I  Symbol and/or name change 5135510 APPROVED