APOA5 (apolipoprotein A5)

Gene

• Entrez ID: 116519
• Gene name: Apolipoprotein A5
• Gene symbol: APOA5
• Synonyms: APOAV, RAP3
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs662799	G>A,C	Drug-response	Upstream transcript variant
rs3135506	G>A,C	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438007	hsa-miR-485-5p	Luciferase reporter assay	24387992
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	16448983
PPARGC1A	Activation	16891307
RORA	Unknown	16448983
SREBF1	Repression	15317819
SREBF1	Unknown	16448983
USF1	Activation	15684402;18572192
USF1	Unknown	20054229
USF2	Activation	18572192
USF2	Unknown	15684402

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005543	Function	Phospholipid binding	IBA	21873635
GO:0005543	Function	Phospholipid binding	IDA	12810715
GO:0005576	Component	Extracellular region	IDA	11577099
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	18635818, 19121291
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006641	Process	Triglyceride metabolic process	IDA	11588264
GO:0006641	Process	Triglyceride metabolic process	IMP	12417525, 14729863, 17142127
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006869	Process	Lipid transport	IDA	15178420
GO:0008047	Function	Enzyme activator activity	IDA	16806135
GO:0008201	Function	Heparin binding	IDA	15878877, 17326667
GO:0008289	Function	Lipid binding	IDA	12810715
GO:0010873	Process	Positive regulation of cholesterol esterification	IBA	21873635
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IBA	21873635
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	18635818
GO:0010902	Process	Positive regulation of very-low-density lipoprotein particle remodeling	IDA	18635818
GO:0015485	Function	Cholesterol binding	IBA	21873635
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0019433	Process	Triglyceride catabolic process	IMP	15178420
GO:0019899	Function	Enzyme binding	IDA	15178420
GO:0030300	Process	Regulation of intestinal cholesterol absorption	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IDA	16806135
GO:0033344	Process	Cholesterol efflux	IBA	21873635
GO:0033700	Process	Phospholipid efflux	IBA	21873635
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	15528295
GO:0034362	Component	Low-density lipoprotein particle	IDA	15528295
GO:0034364	Component	High-density lipoprotein particle	IBA	21873635
GO:0034364	Component	High-density lipoprotein particle	IDA	15528295
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA	21873635
GO:0034380	Process	High-density lipoprotein particle assembly	IBA	21873635
GO:0035473	Function	Lipase binding	IPI	15178420
GO:0042157	Process	Lipoprotein metabolic process	IBA	21873635
GO:0042246	Process	Tissue regeneration	IEP	11577099
GO:0042627	Component	Chylomicron	IBA	21873635
GO:0042627	Component	Chylomicron	IDA	15528295
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	19121291
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IBA	21873635
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	18635818
GO:0046470	Process	Phosphatidylcholine metabolic process	IBA	21873635
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IBA	21873635
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	TAS	18635818
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	17326667
GO:0050996	Process	Positive regulation of lipid catabolic process	IDA	16806135
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IBA	21873635
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IDA	15178420, 16806135, 18635818
GO:0055090	Process	Acylglycerol homeostasis	IDA	11588264
GO:0055090	Process	Acylglycerol homeostasis	IMP	15178420
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA	21873635
GO:0060229	Function	Lipase activator activity	IMP	15178420
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	18635818
GO:0070325	Function	Lipoprotein particle receptor binding	IPI	18635818
GO:0070328	Process	Triglyceride homeostasis	IBA	21873635
GO:0070328	Process	Triglyceride homeostasis	IDA	19121291
GO:0070328	Process	Triglyceride homeostasis	IMP	18635818

Other IDs

• MIM: 606368
• HGNC: 17288
• e!Ensembl: ENSG00000110243

Protein

• UniProt ID: Q6Q788
• Protein name: Apolipoprotein A-V (Apo-AV) (ApoA-V) (Apolipoprotein A5) (Regeneration-associated protein 3)
• Protein function: Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01442	Apolipoprotein	55 → 262	Apolipoprotein A1/A4/E domain	Domain
  PF01442	Apolipoprotein	264 → 358	Apolipoprotein A1/A4/E domain	Domain

• Sequence:

  MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSL
  EQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGW
  NLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRV
  VHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
  ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFT
  RAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGH
  SHLGDP

• Sequence length: 366

Pathways

KEGG:

PPAR signaling pathway

Reactome:

PPARA activates gene expression
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Chylomicron remodeling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs-1, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hyperlipoproteinemia	Hyperlipoproteinemia Type III, Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V, NON RARE IN EUROPE: Hyperlipoproteinemia type 4	rs118204056, rs-1, rs118204057, rs118204058, rs118204059, rs1563572716, rs118204060, rs118204067, rs118204062, rs118204074, rs118204063, rs118204064, rs1563569634, rs118204065, rs118204066, rs1563575252, rs118204068, rs118204069, rs118204070, rs766134215, rs118204071, rs118204072, rs118204073, rs118204075, rs118204076, rs118204077, rs118204078, rs118204079, rs118204080, rs118204081, rs118204082, rs121917821, rs121918393, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396, rs121918397, rs387906567, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs886037774, rs201079485, rs1554517725, rs371282890, rs35414700	16143024, 27604308, 16200213, 29980054, 25732519
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778, 29263402, 24097064
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	28371326, 31170924, 21386085

Unknown
Disease name	Disease term	dbSNP ID	References
Apolipoprotein a5 deficiency	Familial apolipoprotein A5 deficiency
Atheroeruptive xanthoma	Atheroeruptive xanthoma
Childhood obesity	Pediatric Obesity		25137265
Coronary arteriosclerosis	Coronary Arteriosclerosis		24097064
Hyperchylomicronemia with hyperprebetalipoproteinemia	Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial		29980054, 25732519
Hypopituitarism	Hypopituitarism