APOA1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

APOA1

Aliases

HPALP2, apo(a)

Entrez Gene ID

335

Gene Name

Apolipoprotein A1

Chromosomal Location

11q23.3

HGNC ID

HGNC:600

Summary

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 to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]

RefSeq DNA

NG_012021.1

RefSeq mRNA

NM_000039.2, NM_001318017.2, NM_001318018.2, NM_001318021.1, NM_000039.1

e!Ensembl

Gene	ENSG00000118137
Transcript	ENST00000375320, ENST00000359492, ENST00000375329, ENST00000375323, ENST00000236850
Protein	ENSP00000364469, ENSP00000352471, ENSP00000364478, ENSP00000364472, ENSP00000236850

Gene Ontology (GO)

Show/Hide all(91 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002740	Biological process	Negative regulation of cytokine secretion involved in immune response	IDA	12458630
GO:0006656	Biological process	Phosphatidylcholine biosynthetic process	IDA	4335615
GO:0006695	Biological process	Cholesterol biosynthetic process	IBA	21873635
GO:0007179	Biological process	Transforming growth factor beta receptor signaling pathway	IDA	23726972
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IDA	16443932
GO:0007229	Biological process	Integrin-mediated signaling pathway	IDA	23726972
GO:0008203	Biological process	Cholesterol metabolic process	IMP	15464323
GO:0010804	Biological process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	21571275
GO:0010873	Biological process	Positive regulation of cholesterol esterification	IBA	21873635
GO:0010873	Biological process	Positive regulation of cholesterol esterification	IDA	4335615
GO:0010875	Biological process	Positive regulation of cholesterol efflux	IDA	27472885
GO:0010903	Biological process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	14967812
GO:0018158	Biological process	Protein oxidation	IDA	12576517
GO:0018206	Biological process	Peptidyl-methionine modification	IDA	12576517
GO:0019433	Biological process	Triglyceride catabolic process	IBA	21873635
GO:0030301	Biological process	Cholesterol transport	IDA	10559507
GO:0032374	Biological process	Regulation of cholesterol transport	IBA	21873635
GO:0032489	Biological process	Regulation of Cdc42 protein signal transduction	IDA	16443932
GO:0033344	Biological process	Cholesterol efflux	IBA	21873635
GO:0033344	Biological process	Cholesterol efflux	IDA	11162594, 14703508, 15358760, 16443932, 21481393
GO:0033344	Biological process	Cholesterol efflux	IMP	12202492
GO:0033700	Biological process	Phospholipid efflux	IBA	21873635
GO:0033700	Biological process	Phospholipid efflux	IDA	11162594, 14703508
GO:0034115	Biological process	Negative regulation of heterotypic cell-cell adhesion	IDA	21571275
GO:0034372	Biological process	Very-low-density lipoprotein particle remodeling	IBA	21873635
GO:0034375	Biological process	High-density lipoprotein particle remodeling	IC	4335615
GO:0034375	Biological process	High-density lipoprotein particle remodeling	IDA	21481393
GO:0034380	Biological process	High-density lipoprotein particle assembly	IBA	21873635
GO:0034380	Biological process	High-density lipoprotein particle assembly	IDA	190223
GO:0034384	Biological process	High-density lipoprotein particle clearance	IC	12651854
GO:0035025	Biological process	Positive regulation of Rho protein signal transduction	IDA	23726972
GO:0042157	Biological process	Lipoprotein metabolic process	IBA	21873635
GO:0042632	Biological process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Biological process	Cholesterol homeostasis	IDA	21571275
GO:0042632	Biological process	Cholesterol homeostasis	IMP	15464323
GO:0043691	Biological process	Reverse cholesterol transport	IBA	21873635
GO:0043691	Biological process	Reverse cholesterol transport	IMP	15464323
GO:0046889	Biological process	Positive regulation of lipid biosynthetic process	IBA	21873635
GO:0050713	Biological process	Negative regulation of interleukin-1 beta secretion	IDA	12458630
GO:0050728	Biological process	Negative regulation of inflammatory response	IDA	21571275
GO:0050766	Biological process	Positive regulation of phagocytosis	IDA	20495215
GO:0050821	Biological process	Protein stabilization	IDA	17655203, 20495215
GO:0050919	Biological process	Negative chemotaxis	IDA	23726972
GO:0051180	Biological process	Vitamin transport	IMP	15140193
GO:0051345	Biological process	Positive regulation of hydrolase activity	IDA	7638166
GO:0051496	Biological process	Positive regulation of stress fiber assembly	IDA	23726972
GO:0055091	Biological process	Phospholipid homeostasis	IDA	21571275
GO:0060354	Biological process	Negative regulation of cell adhesion molecule production	IDA	21571275
GO:0060761	Biological process	Negative regulation of response to cytokine stimulus	IDA	21571275
GO:0070328	Biological process	Triglyceride homeostasis	IDA	21571275
GO:0070371	Biological process	ERK1 and ERK2 cascade	IDA	23726972
GO:0070508	Biological process	Cholesterol import	IMP	14718538
GO:1900026	Biological process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	23726972
GO:1902995	Biological process	Positive regulation of phospholipid efflux	IDA	27472885
GO:0005576	Cellular component	Extracellular region	HDA	27068509
GO:0005615	Cellular component	Extracellular space	HDA	16502470, 20551380, 22664934
GO:0005615	Cellular component	Extracellular space	IDA	19433579
GO:0005615	Cellular component	Extracellular space	ISS	22261194
GO:0030139	Cellular component	Endocytic vesicle	IDA	14747463
GO:0031410	Cellular component	Cytoplasmic vesicle	IDA	14703508
GO:0034361	Cellular component	Very-low-density lipoprotein particle	IDA	17154273
GO:0034364	Cellular component	High-density lipoprotein particle	IBA	21873635
GO:0034364	Cellular component	High-density lipoprotein particle	IDA	210174, 3104518, 9211985, 15464323, 21571275
GO:0034364	Cellular component	High-density lipoprotein particle	TAS	27477018
GO:0034366	Cellular component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0042627	Cellular component	Chylomicron	IBA	21873635
GO:0062023	Cellular component	Collagen-containing extracellular matrix	HDA	27559042
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0072562	Cellular component	Blood microparticle	HDA	22516433
GO:1903561	Cellular component	Extracellular vesicle	HDA	24769233
GO:0001540	Molecular function	Amyloid-beta binding	IDA	11297421
GO:0001540	Molecular function	Amyloid-beta binding	IPI	9211985
GO:0005102	Molecular function	Signaling receptor binding	IPI	27477018
GO:0005515	Molecular function	Protein binding	IPI	1587806, 11297421, 11991719, 12084722, 12917409, 15174051, 17676061, 17786215, 19758344, 25241761, 25416956, 25910212
GO:0005543	Molecular function	Phospholipid binding	IBA	21873635
GO:0005543	Molecular function	Phospholipid binding	IDA	12810715
GO:0015485	Molecular function	Cholesterol binding	IBA	21873635
GO:0015485	Molecular function	Cholesterol binding	IDA	15464323
GO:0019899	Molecular function	Enzyme binding	IPI	1587806
GO:0031072	Molecular function	Heat shock protein binding	IPI	11027668
GO:0034190	Molecular function	Apolipoprotein receptor binding	IPI	11162594
GO:0034191	Molecular function	Apolipoprotein A-I receptor binding	IPI	16443932
GO:0042802	Molecular function	Identical protein binding	IPI	8049247, 17676061, 18719128, 20133843, 22609356, 24316228, 24702826
GO:0045499	Molecular function	Chemorepellent activity	IDA	23726972
GO:0060228	Molecular function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA	21873635
GO:0060228	Molecular function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IDA	4335615
GO:0070653	Molecular function	High-density lipoprotein particle receptor binding	IBA	21873635
GO:0070653	Molecular function	High-density lipoprotein particle receptor binding	IPI	10764676, 12651854
GO:0120020	Molecular function	Intermembrane cholesterol transfer activity	IBA	21873635
GO:0120020	Molecular function	Intermembrane cholesterol transfer activity	IDA	9651324
GO:0120020	Molecular function	Intermembrane cholesterol transfer activity	IMP	15464323

Protein Information

Protein Name

Apolipoprotein A-I, apo-AI, epididymis secretory sperm binding protein

Function

Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.

Refseq Proteins

NP_000030.1, NP_001304946.1, NP_001304947.1, NP_001304950.1

UniProt

P02647

PDB

1AV1, 1GW3, 1GW4, 1ODP, 1ODQ, 1ODR, 2MSC, 2MSD, 2MSE, 2N5E, 3K2S, 3R2P, 4V6M, 6CC9, 6CCH, 6CCX, 6CLZ, 6CM1

Pfam

Pfam Accession	Pfam ID
PF01442	Apolipoprotein