• Gene id: 335

Gene Summary

• Gene Symbol: APOA1   Gene   UCSC   Ensembl
• Aliases: HPALP2, apo(a)
• Gene name: apolipoprotein A1
• Alternate names: apolipoprotein A-I, apo-AI, epididymis secretory sperm binding protein,
• Gene location: 11q23.3 (116837949: 116835750)     Exons: 40     NC_000011.10
• Gene summary(Entrez): This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues t
• OMIM: 107680

SNPs

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs6313

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.46895805G>A
NC_000013.11   g.46895805G>C
NC_000013.10   g.47469940G>A
NC_000013.10   g.47469940G>C
NG_013011.1   g.6230C>T
NG_013011.1   g.6230C>G
NM_000621.5   c.102C>T
NM_000621.5   c.102C>G
NM_000621.4   c.102C>T
NM_000621.4   c.102C>G
NM_001378924.1  

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

Protein Summary

• Protein general information: P02647  
  • Name: Apolipoprotein A I (Apo AI) (ApoA I) (Apolipoprotein A1) [Cleaved into: Proapolipoprotein A I (ProapoA I); Truncated apolipoprotein A I (Apolipoprotein A I(1 242))]
  • Length: 267  
  • Mass: 30778
  • Tissue specificity: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in car
• Sequence:

  MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWD
  SVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAEL
  QEGARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLS
  TLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ

• Structural information:
  • Interpro: IPR000074  
  • PDB: 1AV1 1GW3 1GW4 1ODP 1ODQ 1ODR 2MSC 2MSD 2MSE 2N5E 3K2S 3R2P 4V6M 6CC9 6CCH 6CCX 6CLZ 6CM1
  • PDBsum: 1AV1 1GW3 1GW4 1ODP 1ODQ 1ODR 2MSC 2MSD 2MSE 2N5E 3K2S 3R2P 4V6M 6CC9 6CCH 6CCX 6CLZ 6CM1
  • DIP: 29619
  • STRING: ENSP00000236850
• Other Databases: GeneCards:  APOA1  Malacards:  APOA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0034364	high-density lipoprotein particle	TAS	cellular component
GO:0051006	positive regulation of lipoprotein lipase activity	IBA	biological process
GO:0046889	positive regulation of lipid biosynthetic process	IBA	biological process
GO:0034380	high-density lipoprotein particle assembly	IBA	biological process
GO:0034364	high-density lipoprotein particle	IBA	cellular component
GO:0033700	phospholipid efflux	IBA	biological process
GO:0030300	regulation of intestinal cholesterol absorption	IBA	biological process
GO:0015485	cholesterol binding	IBA	molecular function
GO:0010898	positive regulation of triglyceride catabolic process	IBA	biological process
GO:0010873	positive regulation of cholesterol esterification	IBA	biological process
GO:0005543	phospholipid binding	IBA	molecular function
GO:0070653	high-density lipoprotein particle receptor binding	IBA	molecular function
GO:0070328	triglyceride homeostasis	IBA	biological process
GO:0060228	phosphatidylcholine-sterol O-acyltransferase activator activity	IBA	molecular function
GO:0046470	phosphatidylcholine metabolic process	IBA	biological process
GO:0045723	positive regulation of fatty acid biosynthetic process	IBA	biological process
GO:0043691	reverse cholesterol transport	IBA	biological process
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0042627	chylomicron	IBA	cellular component
GO:0042157	lipoprotein metabolic process	IBA	biological process
GO:0034372	very-low-density lipoprotein particle remodeling	IBA	biological process
GO:0033344	cholesterol efflux	IBA	biological process
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0018206	peptidyl-methionine modification	IDA	biological process
GO:0018158	protein oxidation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0034364	high-density lipoprotein particle	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0033344	cholesterol efflux	IMP	biological process
GO:0051180	vitamin transport	IMP	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0034378	chylomicron assembly	TAS	biological process
GO:0034380	high-density lipoprotein particle assembly	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0034371	chylomicron remodeling	TAS	biological process
GO:0034375	high-density lipoprotein particle remodeling	TAS	biological process
GO:0034384	high-density lipoprotein particle clearance	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043627	response to estrogen	IEA	biological process
GO:0034365	discoidal high-density lipoprotein particle	IEA	cellular component
GO:0034362	low-density lipoprotein particle	IEA	cellular component
GO:0030301	cholesterol transport	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0071813	lipoprotein particle binding	IEA	molecular function
GO:0042158	lipoprotein biosynthetic process	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030301	cholesterol transport	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0008211	glucocorticoid metabolic process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0006644	phospholipid metabolic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0120020	cholesterol transfer activity	IEA	molecular function
GO:0060192	negative regulation of lipase activity	IEA	biological process
GO:0055102	lipase inhibitor activity	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0034364	high-density lipoprotein particle	IEA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IEA	cellular component
GO:0031100	animal organ regeneration	IEA	biological process
GO:0015914	phospholipid transport	IEA	biological process
GO:0014012	peripheral nervous system axon regeneration	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0120020	cholesterol transfer activity	IEA	molecular function
GO:0051346	negative regulation of hydrolase activity	IEA	biological process
GO:0043534	blood vessel endothelial cell migration	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030300	regulation of intestinal cholesterol absorption	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008035	high-density lipoprotein particle binding	IEA	molecular function
GO:0001935	endothelial cell proliferation	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0034375	high-density lipoprotein particle remodeling	IDA	biological process
GO:0060228	phosphatidylcholine-sterol O-acyltransferase activator activity	IDA	molecular function
GO:0070653	high-density lipoprotein particle receptor binding	IPI	molecular function
GO:0070653	high-density lipoprotein particle receptor binding	IPI	molecular function
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0120020	cholesterol transfer activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0120020	cholesterol transfer activity	IMP	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0034190	apolipoprotein receptor binding	IPI	molecular function
GO:0034191	apolipoprotein A-I receptor binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IDA	biological process
GO:0010804	negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0032489	regulation of Cdc42 protein signal transduction	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0034366	spherical high-density lipoprotein particle	IDA	cellular component
GO:0034375	high-density lipoprotein particle remodeling	IC	biological process
GO:0034384	high-density lipoprotein particle clearance	IC	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0055091	phospholipid homeostasis	IDA	biological process
GO:0070328	triglyceride homeostasis	IDA	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0043691	reverse cholesterol transport	IMP	biological process
GO:0070508	cholesterol import	IMP	biological process
GO:0002740	negative regulation of cytokine production involved in immune response	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0010873	positive regulation of cholesterol esterification	IDA	biological process
GO:0010903	negative regulation of very-low-density lipoprotein particle remodeling	IDA	biological process
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0033700	phospholipid efflux	IDA	biological process
GO:0033700	phospholipid efflux	IDA	biological process
GO:0034115	negative regulation of heterotypic cell-cell adhesion	IDA	biological process
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0034380	high-density lipoprotein particle assembly	IDA	biological process
GO:0050713	negative regulation of interleukin-1 beta secretion	IDA	biological process
GO:0050728	negative regulation of inflammatory response	IDA	biological process
GO:0051345	positive regulation of hydrolase activity	IDA	biological process
GO:0060354	negative regulation of cell adhesion molecule production	IDA	biological process
GO:0060761	negative regulation of response to cytokine stimulus	IDA	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0045499	chemorepellent activity	IDA	molecular function
GO:0050821	protein stabilization	IDA	biological process
GO:1902995	positive regulation of phospholipid efflux	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0035025	positive regulation of Rho protein signal transduction	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	NOT|biological process
GO:0050919	negative chemotaxis	IDA	biological process
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0051496	positive regulation of stress fiber assembly	IDA	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IDA	biological process
GO:0070371	ERK1 and ERK2 cascade	IDA	NOT|biological process
GO:0050766	positive regulation of phagocytosis	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03320	PPAR signaling pathway
hsa04979	Cholesterol metabolism
hsa04975	Fat digestion and absorption
hsa05143	African trypanosomiasis
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Cancer	GAD: 11771311
Atherosclerosis	GAD: 12544508
Cardiovascular disease	GAD: 12544508
Cerebrovascular disease	GAD: 12544508
Coronary heart disease	GAD: 12544508
Hypertension	GAD: 12544508
Myocardial Infarction	GAD: 12544508
Familial amyloidosis	KEGG: H00845
Hypoalphalipoproteinemia	KEGG: H00930
Gout	GAD: 15115711
Sickle cell anemia	GAD: 12544508
Multiple sclerosis	GAD: 18805838
Diabetes	GAD: 12732844
Familial combined hyperlipidaemia	GAD: 11737222
Hyperlipidemia	GAD: 11181747
Familial combined hyperlipoproteinemia	GAD: 9026529
Hypertriglyceridemia	GAD: 19057464
Obesity	GAD: 12544508
Osteonecrosis	GAD: 17530370
Alzheimer's disease	GAD: 16136540
Chronic kidney failure	GAD: 19578796
Human oocyte maturation	INFBASE: 19230882
Unexplained infertility	INFBASE: 19230882
Femur head necrosis	GAD: 19105467
Hyperalphalipoproteinemia	GAD: 1980685
Hyperuricemia	GAD: 15868628
Familial amyloidosis	KEGG:H00845
Hypoalphalipoproteinemia	KEGG:H00930
Familial amyloidosis	KEGG:H00845
Hypoalphalipoproteinemia	KEGG:H00930
Idiopathic pulmonary fibrosis	PMID:20463180
Non-alcoholic steatohepatitis	PMID:24793484
Alzheimer's disease	PMID:19863188
Alzheimer's disease	PMID:20847045
Hypolipoproteinemia	PMID:9931341
Parkinson's disease	PMID:20085559
pancreatic cancer	PMID:17312459
Atherosclerosis	PMID:23078847
Atherosclerosis	PMID:18287885
Multiple sclerosis	PMID:20350318
Transitional cell carcinoma	PMID:21496341
Coronary artery disease	PMID:2128269
cholangiocarcinoma	PMID:19486127
Myocardial infarction	PMID:20176799
congestive heart failure	PMID:17517342
Systemic lupus erythematosus	PMID:20131231
type 2 diabetes mellitus	PMID:9649952
type 2 diabetes mellitus	PMID:18079481
type 1 diabetes mellitus	PMID:9578960
obesity	PMID:12725089
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881