APOA1 (apolipoprotein A1) - Rat Genome Database

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Gene: APOA1 (apolipoprotein A1) Homo sapiens
Symbol: APOA1
Name: apolipoprotein A1
RGD ID: 735962
Description: Enables 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. Acts upstream of or within cholesterol transport. Located in endocytic vesicle and extracellular space. Part of spherical high-density lipoprotein particle and very-low-density lipoprotein particle. Implicated in several diseases, including artery disease (multiple); familial visceral amyloidosis; hypolipoproteinemia (multiple); 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
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
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_111116,591,221 - 116,593,090 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (EXP)
Acute Tubulointerstitial Nephritis  (IDA)
adenocarcinoma  (EXP)
Alzheimer's disease  (IEP,IMP)
arteriosclerosis  (IEA,ISO)
atherosclerosis  (EXP,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 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)
intellectual disability  (IAGP)
Kidney Reperfusion Injury  (IDA)
lipid metabolism disorder  (EXP)
liver cirrhosis  (IEP)
lung adenocarcinoma  (EXP)
Lung Neoplasms  (EXP)
major depressive disorder  (ISO)
malignant mesothelioma  (EXP)
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)
primary hypoalphalipoproteinemia 1  (IAGP)
primary hypoalphalipoproteinemia 2  (IAGP)
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
(+)-taxifolin  (EXP)
(-)-ephedrine  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R,R,R)-alpha-tocopherol  (EXP,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)
aristolochic acid  (EXP)
atazanavir sulfate  (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)
chlorpyrifos  (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)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dichlorine  (EXP)
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)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycolaldehyde  (ISO)
glyoxal  (ISO)
GW 4064  (EXP,ISO)
GW 501516  (EXP,ISO)
GW 7647  (EXP)
high-density lipoprotein cholesterol  (EXP,ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP)
hypochlorous acid  (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)
nefazodone  (EXP)
nevirapine  (EXP)
nickel atom  (EXP)
nicotinic acid  (EXP,ISO)
nifedipine  (EXP)
nitrofen  (ISO)
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 chloride  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
stigmasterol  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tartrazine  (EXP)
taurocholic acid  (EXP)
tauroursodeoxycholic acid  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
tolcapone  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
U-73122  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
warfarin  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA,ISO)
animal organ regeneration  (ISO)
axon regeneration  (ISO)
blood vessel endothelial cell migration  (IEA,ISO)
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)
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)
high-density lipoprotein particle clearance  (IC)
high-density lipoprotein particle remodeling  (IC,IDA)
integrin-mediated signaling pathway  (IDA)
intermembrane lipid transfer  (IEA)
lipid storage  (IEA,ISO)
lipid transport  (IEA)
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  (IEA,ISO)
negative regulation of inflammatory response  (IDA)
negative regulation of interleukin-1 beta production  (IDA)
negative regulation of lipase activity  (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  (ISO)
phosphatidylcholine biosynthetic process  (IDA)
phosphatidylcholine metabolic process  (IBA)
phospholipid efflux  (IBA,IDA)
phospholipid homeostasis  (IDA)
phospholipid metabolic process  (ISO)
phospholipid transport  (ISO)
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)
protein localization  (ISO)
protein oxidation  (IDA)
protein stabilization  (IDA)
regulation of Cdc42 protein signal transduction  (IDA)
regulation of intestinal cholesterol absorption  (IBA,ISO)
regulation of protein phosphorylation  (IEA,ISO)
response to estrogen  (ISO)
response to nutrient  (ISO)
response to xenobiotic stimulus  (ISO)
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)


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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  
PMID:6328445   PMID:6401735   PMID:6402711   PMID:6404278   PMID:6405383   PMID:6406984   PMID:6409108   PMID:6412234   PMID:6413973   PMID:6432779   PMID:6439535   PMID:6457647  
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PMID:12608057   PMID:12642784   PMID:12651854   PMID:12665801   PMID:12690114   PMID:12692252   PMID:12692552   PMID:12709430   PMID:12722515   PMID:12724319   PMID:12732844   PMID:12742997  
PMID:12754494   PMID:12754559   PMID:12782148   PMID:12791946   PMID:12798568   PMID:12801612   PMID:12810715   PMID:12818417   PMID:12824284   PMID:12871600   PMID:12875674   PMID:12917409  
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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  
PMID:15952766   PMID:15961173   PMID:15962178   PMID:15972827   PMID:15982502   PMID:15994327   PMID:16005361   PMID:16005451   PMID:16005460   PMID:16009332   PMID:16023124   PMID:16053196  
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PMID:16770077   PMID:16781717   PMID:16801176   PMID:16895799   PMID:16931800   PMID:16939214   PMID:16968945   PMID:17020879   PMID:17071967   PMID:17075859   PMID:17076584   PMID:17113061  
PMID:17142127   PMID:17154273   PMID:17165100   PMID:17204472   PMID:17216278   PMID:17255364   PMID:17261136   PMID:17272829   PMID:17298957   PMID:17303779   PMID:17378725   PMID:17447731  
PMID:17457002   PMID:17474718   PMID:17475009   PMID:17478755   PMID:17510466   PMID:17526499   PMID:17530370   PMID:17530866   PMID:17563120   PMID:17580958   PMID:17600344   PMID:17604270  
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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  
PMID:19592705   PMID:19618959   PMID:19635584   PMID:19636829   PMID:19651918   PMID:19667106   PMID:19701693   PMID:19729689   PMID:19732897   PMID:19740687   PMID:19758344   PMID:19762782  
PMID:19765778   PMID:19766218   PMID:19786567   PMID:19802338   PMID:19805625   PMID:19878569   PMID:19911804   PMID:19913121   PMID:19917453   PMID:19932694   PMID:19948731   PMID:19948975  
PMID:19956635   PMID:19965585   PMID:20008415   PMID:20031551   PMID:20059975   PMID:20064972   PMID:20080084   PMID:20083572   PMID:20110571   PMID:20133843   PMID:20139978   PMID:20143106  
PMID:20164363   PMID:20167577   PMID:20182709   PMID:20195290   PMID:20197510   PMID:20211930   PMID:20213498   PMID:20215705   PMID:20331378   PMID:20349521   PMID:20360068   PMID:20368199  
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PMID:21047795   PMID:21069432   PMID:21103663   PMID:21115733   PMID:21117950   PMID:21122686   PMID:21122859   PMID:21129746   PMID:21138461   PMID:21141907   PMID:21156318   PMID:21209084  
PMID:21292766   PMID:21296086   PMID:21329368   PMID:21330603   PMID:21339300   PMID:21354994   PMID:21355296   PMID:21367423   PMID:21378990   PMID:21394531   PMID:21399642   PMID:21399863  
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PMID:21676393   PMID:21677994   PMID:21734188   PMID:21749932   PMID:21755356   PMID:21761133   PMID:21767760   PMID:21800051   PMID:21800421   PMID:21801720   PMID:21804189   PMID:21811627  
PMID:21820994   PMID:21832049   PMID:21835924   PMID:21840419   PMID:21846716   PMID:21854571   PMID:21868729   PMID:21870882   PMID:21873635   PMID:21875686   PMID:21900206   PMID:21909109  
PMID:21914797   PMID:21944998   PMID:21988832   PMID:22056562   PMID:22105741   PMID:22119776   PMID:22184756   PMID:22211563   PMID:22219194   PMID:22229410   PMID:22235130   PMID:22245143  
PMID:22261194   PMID:22271762   PMID:22282358   PMID:22286219   PMID:22287661   PMID:22295944   PMID:22297598   PMID:22320308   PMID:22389325   PMID:22407494   PMID:22418575   PMID:22441101  
PMID:22471842   PMID:22483015   PMID:22516433   PMID:22609356   PMID:22619369   PMID:22664934   PMID:22674204   PMID:22675253   PMID:22750655   PMID:22889670   PMID:22916037   PMID:22924697  
PMID:22952757   PMID:22986928   PMID:23037322   PMID:23066790   PMID:23067370   PMID:23088652   PMID:23096223   PMID:23119086   PMID:23121297   PMID:23125458   PMID:23152129   PMID:23154241  
PMID:23183508   PMID:23209431   PMID:23219399   PMID:23233540   PMID:23233678   PMID:23322769   PMID:23359805   PMID:23364307   PMID:23376485   PMID:23385359   PMID:23409054   PMID:23410546  
PMID:23420675   PMID:23425306   PMID:23438152   PMID:23447138   PMID:23454085   PMID:23457133   PMID:23479152   PMID:23505323   PMID:23533145   PMID:23543682   PMID:23564081   PMID:23568022  
PMID:23580759   PMID:23631828   PMID:23650622   PMID:23668303   PMID:23690001   PMID:23697869   PMID:23701995   PMID:23719382   PMID:23726972   PMID:23730806   PMID:23740387   PMID:23758329  
PMID:23786280   PMID:23806608   PMID:23826352   PMID:23829168   PMID:23883582   PMID:23889245   PMID:23902290   PMID:23936200   PMID:23969698   PMID:23973688   PMID:23984834   PMID:23989729  
PMID:23994331   PMID:24008390   PMID:24015188   PMID:24028463   PMID:24038215   PMID:24038317   PMID:24081495   PMID:24089247   PMID:24097068   PMID:24120703   PMID:24148653   PMID:24201377  
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PMID:25025299   PMID:25060954   PMID:25113039   PMID:25117102   PMID:25170076   PMID:25170080   PMID:25194312   PMID:25227208   PMID:25241761   PMID:25248404   PMID:25341944   PMID:25359426  
PMID:25374385   PMID:25392541   PMID:25415591   PMID:25416956   PMID:25423138   PMID:25445031   PMID:25451254   PMID:25463085   PMID:25465061   PMID:25468275   PMID:25528002   PMID:25550459  
PMID:25561462   PMID:25595057   PMID:25613532   PMID:25651728   PMID:25653052   PMID:25692941   PMID:25759391   PMID:25789510   PMID:25793886   PMID:25818853   PMID:25820252   PMID:25849372  
PMID:25884165   PMID:25890187   PMID:25910212   PMID:25913481   PMID:25920915   PMID:25950566   PMID:25964115   PMID:25969892   PMID:25979856   PMID:26005953   PMID:26048453   PMID:26049118  
PMID:26070092   PMID:26073399   PMID:26073400   PMID:26086425   PMID:26118305   PMID:26168996   PMID:26173491   PMID:26175149   PMID:26186194   PMID:26200866   PMID:26207725   PMID:26238231  
PMID:26261631   PMID:26292220   PMID:26337083   PMID:26359513   PMID:26363436   PMID:26363640   PMID:26368306   PMID:26420021   PMID:26491253   PMID:26496610   PMID:26503474   PMID:26537097  
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PMID:28304324   PMID:28372564   PMID:28378321   PMID:28391888   PMID:28408323   PMID:28445313   PMID:28502492   PMID:28514442   PMID:28540474   PMID:28565870   PMID:28578353   PMID:28595037  
PMID:28635360   PMID:28644829   PMID:28675297   PMID:28710487   PMID:28754383   PMID:28770971   PMID:28802864   PMID:28887769   PMID:28939717   PMID:28957410   PMID:28969676   PMID:28992985  
PMID:29030428   PMID:29031392   PMID:29032752   PMID:29074586   PMID:29074589   PMID:29150341   PMID:29154726   PMID:29174954   PMID:29208698   PMID:29277345   PMID:29287080   PMID:29359590  
PMID:29377875   PMID:29378195   PMID:29401604   PMID:29440006   PMID:29442267   PMID:29444935   PMID:29447225   PMID:29509190   PMID:29581158   PMID:29618705   PMID:29618920   PMID:29623474  
PMID:29626583   PMID:29680706   PMID:29712830   PMID:29735542   PMID:29747660   PMID:29758034   PMID:29773713   PMID:29776362   PMID:29802959   PMID:29853648   PMID:29859275   PMID:29915952  
PMID:29968409   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:31080037   PMID:31180492   PMID:31184614   PMID:31188743   PMID:31211449   PMID:31270237   PMID:31273033  
PMID:31343991   PMID:31391051   PMID:31401190   PMID:31482740   PMID:31599692   PMID:31678510   PMID:31682461   PMID:31765698   PMID:31779197   PMID:31783518   PMID:31863971   PMID:31904503  
PMID:31936876   PMID:31945064   PMID:31952546   PMID:31980684   PMID:31992359   PMID:32092318   PMID:32113648   PMID:32189309   PMID:32194045   PMID:32282500   PMID:32296183   PMID:32418956  
PMID:32437778   PMID:32491935   PMID:32546165   PMID:32563265   PMID:32666307   PMID:32758395   PMID:32810603   PMID:32814053   PMID:32841328   PMID:32919081   PMID:32946930   PMID:32950994  
PMID:32961276   PMID:32989256   PMID:33029257   PMID:33194618   PMID:33216373   PMID:33430253   PMID:33591433   PMID:33652957   PMID:33717107   PMID:33753020   PMID:33961781   PMID:34131170  
PMID:34135129   PMID:34181800   PMID:34202121   PMID:34206021   PMID:34500559  


Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
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_111116,591,221 - 116,593,090 (-)NCBICHM1_1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.2846,527,251 - 46,529,035 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl846,527,144 - 46,529,035 (+)Ensembl
Rnor_6.0850,525,091 - 50,526,875 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,525,091 - 50,526,875 (+)EnsemblRnor6.0rn6Rnor6.0
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
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_00495541218,170,331 - 18,172,298 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,170,331 - 18,172,298 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
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
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.1516,740,071 - 16,742,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,740,130 - 16,741,943 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,792,234 - 16,794,244 (+)NCBI
ROS_Cfam_1.0516,686,357 - 16,688,357 (+)NCBI
UMICH_Zoey_3.1516,823,454 - 16,825,453 (+)NCBI
UNSW_CanFamBas_1.0516,726,037 - 16,728,039 (+)NCBI
UU_Cfam_GSD_1.0516,768,944 - 16,770,956 (+)NCBI
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440494799,189,637 - 99,191,475 (-)NCBI
SpeTri2.0NW_0049365422,111,055 - 2,112,626 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
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
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.11108,201,967 - 108,203,902 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,201,439 - 108,203,609 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604317,846,715 - 17,848,683 (+)NCBIVero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla 1.0NW_00462478412,249,283 - 12,251,215 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.


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


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:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,622 (-)Ensembl
RefSeq Acc Id: ENST00000359492   ⟹   ENSP00000352471
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,609 (-)Ensembl
RefSeq Acc Id: ENST00000375320   ⟹   ENSP00000364469
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,586 (-)Ensembl
RefSeq Acc Id: ENST00000375323   ⟹   ENSP00000364472
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,614 (-)Ensembl
RefSeq Acc Id: ENST00000375329   ⟹   ENSP00000364478
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11116,835,751 - 116,837,610 (-)Ensembl
RefSeq Acc Id: NM_000039   ⟹   NP_000030
RefSeq Status: REVIEWED
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
RefSeq Acc Id: NM_001318017   ⟹   NP_001304946
RefSeq Status: REVIEWED
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,622 (-)NCBI
CHM1_111116,591,219 - 116,593,054 (-)NCBI
RefSeq Acc Id: NM_001318018   ⟹   NP_001304947
RefSeq Status: REVIEWED
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,622 (-)NCBI
CHM1_111116,591,219 - 116,593,077 (-)NCBI
RefSeq Acc Id: NM_001318021   ⟹   NP_001304950
RefSeq Status: REVIEWED
Human AssemblyChrPosition (strand)Source
GRCh3811116,835,751 - 116,837,950 (-)NCBI
CHM1_111116,591,219 - 116,593,418 (-)NCBI
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

RGD ID:7222221
Promoter ID:EPDNEW_H16856
Type:initiation region
Description:apolipoprotein A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Human AssemblyChrPosition (strand)Source
GRCh3811116,837,622 - 116,837,682EPDNEW
RGD ID:6849568
Promoter ID:EP30021
Type:single initiation site
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_000039.3(APOA1):c.162G>C (p.Val54=) single nucleotide variant Cardiomyopathy [RCV000029340] Chr11:116837039 [GRCh38]
Chr11:116707755 [GRCh37]
likely benign
NM_000039.3(APOA1):c.589C>T (p.Arg197Cys) single nucleotide variant APOLIPOPROTEIN A-I (MILANO) [RCV000019498] Chr11:116836023 [GRCh38]
Chr11:116706739 [GRCh37]
NM_000039.3(APOA1):c.500C>G (p.Pro167Arg) single nucleotide variant APOLIPOPROTEIN A-I (GIESSEN) [RCV000019499] Chr11:116836112 [GRCh38]
Chr11:116706828 [GRCh37]
NM_000039.3(APOA1):c.391A>T (p.Lys131Ter) single nucleotide variant APOLIPOPROTEIN A-I (MARBURG) [RCV000019500] Chr11:116836221 [GRCh38]
Chr11:116706937 [GRCh37]
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER4) [RCV000019501] Chr11:116835948 [GRCh38]
Chr11:116706664 [GRCh37]
NM_000039.3(APOA1):c.478G>A (p.Glu160Lys) single nucleotide variant APOLIPOPROTEIN A-I (NORWAY) [RCV000019502] Chr11:116836134 [GRCh38]
Chr11:116706850 [GRCh37]
NM_000039.3(APOA1):c.80C>G (p.Pro27Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3C) [RCV000019503] Chr11:116837121 [GRCh38]
Chr11:116707837 [GRCh37]
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3B) [RCV000019504] Chr11:116837118 [GRCh38]
Chr11:116707834 [GRCh37]
NM_000039.3(APOA1):c.566C>G (p.Pro189Arg) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019505] Chr11:116836046 [GRCh38]
Chr11:116706762 [GRCh37]
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) single nucleotide variant Familial amyloid polyneuropathy, Iowa type [RCV000019506] Chr11:116837053 [GRCh38]
Chr11:116707769 [GRCh37]
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_000039.3(APOA1):c.101G>T (p.Arg34Leu) single nucleotide variant APOLIPOPROTEIN A-I (BALTIMORE) [RCV000019513]|not provided [RCV001508677] Chr11:116837100 [GRCh38]
Chr11:116707816 [GRCh37]
pathogenic|uncertain significance
APOA1, 1-BP DEL, CODON 202 deletion Apolipoprotein A-I deficiency [RCV000019514] Chr11:11q23 pathogenic
NM_000039.3(APOA1):c.322C>T (p.Gln108Ter) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019515] Chr11:116836290 [GRCh38]
Chr11:116707006 [GRCh37]
NM_000039.3(APOA1):c.251T>G (p.Leu84Arg) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019516] Chr11:116836361 [GRCh38]
Chr11:116707077 [GRCh37]
NM_000039.3(APOA1):c.67C>T (p.Gln23Ter) single nucleotide variant Tangier disease [RCV000019517] Chr11:116837134 [GRCh38]
Chr11:116707850 [GRCh37]
APOA1, 1-BP INS insertion Familial hypoalphalipoproteinemia [RCV000019518] Chr11:11q23 pathogenic
NM_000039.3(APOA1):c.166C>T (p.Gln56Ter) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019519] Chr11:116837035 [GRCh38]
Chr11:116707751 [GRCh37]
APOA1, 12-BP DEL AND 2-BP INS indel Familial visceral amyloidosis, Ostertag type [RCV000019520] Chr11:11q23 pathogenic
NM_000039.3(APOA1):c.220T>C (p.Trp74Arg) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019521] Chr11:116836392 [GRCh38]
Chr11:116707108 [GRCh37]
NM_000039.3(APOA1):c.539T>A (p.Val180Glu) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019522] Chr11:116836073 [GRCh38]
Chr11:116706789 [GRCh37]
APOA1, IVS2, G-C, +1 single nucleotide variant Hypoalphalipoproteinemia, primary, 2 [RCV000019523] Chr11:11q23 pathogenic
NM_000039.3(APOA1):c.341T>C (p.Leu114Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019524] Chr11:116836271 [GRCh38]
Chr11:116706987 [GRCh37]
NM_000039.3(APOA1):c.518G>C (p.Arg173Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019525] Chr11:116836094 [GRCh38]
Chr11:116706810 [GRCh37]
NM_000039.3(APOA1):c.593T>C (p.Leu198Ser) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019526] Chr11:116836019 [GRCh38]
Chr11:116706735 [GRCh37]
NM_000039.3(APOA1):c.595G>C (p.Ala199Pro) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019527] Chr11:116836017 [GRCh38]
Chr11:116706733 [GRCh37]
NM_000039.3(APOA1):c.524_535dup (p.175RA[4]) duplication not provided [RCV000722905] Chr11:116836076..116836077 [GRCh38]
Chr11:116706792..116706793 [GRCh37]
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]
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]
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]
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]
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]
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]
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]
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
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]
likely benign
NM_000039.3(APOA1):c.-11G>A single nucleotide variant Familial hypoalphalipoproteinemia [RCV000321194]|Familial visceral amyloidosis, Ostertag type [RCV000268463] Chr11:116837398 [GRCh38]
Chr11:116708114 [GRCh37]
likely benign
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000382429]|Familial visceral amyloidosis, Ostertag type [RCV000285625] Chr11:116836114 [GRCh38]
Chr11:116706830 [GRCh37]
likely benign|uncertain significance
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000376483]|Familial visceral amyloidosis, Ostertag type [RCV000324251] Chr11:116836132 [GRCh38]
Chr11:116706848 [GRCh37]
uncertain significance
NM_000039.3(APOA1):c.28G>A (p.Val10Met) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000365762]|Familial visceral amyloidosis, Ostertag type [RCV000268859] Chr11:116837360 [GRCh38]
Chr11:116708076 [GRCh37]
benign|uncertain significance
NM_000039.3(APOA1):c.9T>C (p.Ala3=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000360809]|Familial visceral amyloidosis, Ostertag type [RCV000327031]|not provided [RCV001699299] Chr11:116837379 [GRCh38]
Chr11:116708095 [GRCh37]
benign|likely benign|uncertain significance
NM_000039.3(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]
benign|likely benign
NM_000039.3(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]
benign|likely benign
NM_000039.3(APOA1):c.116C>T (p.Ala39Val) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000308803]|Familial visceral amyloidosis, Ostertag type [RCV000398922] Chr11:116837085 [GRCh38]
Chr11:116707801 [GRCh37]
uncertain significance
NM_000039.3(APOA1):c.168G>A (p.Gln56=) single nucleotide variant Familial hypoalphalipoproteinemia [RCV000367038]|Familial visceral amyloidosis, Ostertag type [RCV000314646] Chr11:116837033 [GRCh38]
Chr11:116707749 [GRCh37]
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]
benign|likely benign
NM_000039.3(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]
likely benign
NM_000039.3(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]
benign|likely benign
NM_000039.3(APOA1):c.85dup (p.Gln29fs) duplication Familial hypoalphalipoproteinemia [RCV000019518]|not provided [RCV000599012] Chr11:116837115..116837116 [GRCh38]
Chr11:116707831..116707832 [GRCh37]
pathogenic|likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
NM_000039.3(APOA1):c.532_533dup (p.His179fs) microsatellite not provided [RCV000684747] Chr11:116836078..116836079 [GRCh38]
Chr11:116706794..116706795 [GRCh37]
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
null single nucleotide variant not provided [RCV001692500] Chr11:116835627 [GRCh38]
Chr11:116706343 [GRCh37]
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) single nucleotide variant not specified [RCV001582342] Chr11:116836048 [GRCh38]
Chr11:116706764 [GRCh37]
NM_000039.3(APOA1):c.201-150G>T single nucleotide variant not provided [RCV001550027] Chr11:116836561 [GRCh38]
Chr11:116707277 [GRCh37]
likely benign
NM_000039.3(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]
uncertain significance
NM_000039.3(APOA1):c.388AAG[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]
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]
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]
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]
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]
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686837] Chr11:116836622 [GRCh38]
Chr11:116707338 [GRCh37]
NM_000039.2(APOA1):c.327G>A (p.Glu109=) single nucleotide variant not provided [RCV000910068] Chr11:116836285 [GRCh38]
Chr11:116707001 [GRCh37]
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]
uncertain significance
NM_000039.3(APOA1):c.483G>C (p.Leu161=) single nucleotide variant not provided [RCV000934589] Chr11:116836129 [GRCh38]
Chr11:116706845 [GRCh37]
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001713575] Chr11:116836797 [GRCh38]
Chr11:116707513 [GRCh37]
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638922] Chr11:116836474 [GRCh38]
Chr11:116707190 [GRCh37]
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657542] Chr11:116836968 [GRCh38]
Chr11:116707684 [GRCh37]
null single nucleotide variant not provided [RCV001595373] Chr11:116836867 [GRCh38]
Chr11:116707583 [GRCh37]
null single nucleotide variant not provided [RCV001637832] Chr11:116837538 [GRCh38]
Chr11:116708254 [GRCh37]
null single nucleotide variant not provided [RCV001710131] Chr11:116835630 [GRCh38]
Chr11:116706346 [GRCh37]
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]
uncertain significance
NM_000039.3(APOA1):c.625G>A (p.Gly209Ser) single nucleotide variant Chronic kidney disease [RCV001171350] Chr11:116835987 [GRCh38]
Chr11:116706703 [GRCh37]
uncertain significance
null single nucleotide variant not provided [RCV001613628] Chr11:116837304 [GRCh38]
Chr11:116708020 [GRCh37]
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]
likely benign
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) single nucleotide variant not specified [RCV001193576] Chr11:116837043 [GRCh38]
Chr11:116707759 [GRCh37]
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
NM_000039.3(APOA1):c.455A>G (p.Glu152Gly) single nucleotide variant not provided [RCV001508675] Chr11:116836157 [GRCh38]
Chr11:116706873 [GRCh37]
uncertain significance
NM_000039.3(APOA1):c.283T>C (p.Phe95Leu) single nucleotide variant not specified [RCV001526889] Chr11:116836329 [GRCh38]
Chr11:116707045 [GRCh37]
uncertain significance
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) single nucleotide variant not provided [RCV001698825] Chr11:116836685 [GRCh38]
Chr11:116707401 [GRCh37]
NM_000384.3(APOB):c.3122-6G>A single nucleotide variant not provided [RCV001699853] Chr11:116836007 [GRCh38]
Chr11:116706723 [GRCh37]
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) single nucleotide variant not provided [RCV001508676] Chr11:116836316 [GRCh38]
Chr11:116707032 [GRCh37]

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:600 AgrOrtholog
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
Human Proteome Map APOA1 Human Proteome Map
InterPro ApoA_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
OMIM 105200 OMIM
  107680 OMIM
  618463 OMIM
Pfam Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APOA1_HUMAN UniProtKB/Swiss-Prot
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