Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	116519
Gene name	Apolipoprotein A5
Gene symbol	APOA5
Synonyms (NCBI Gene)	APOAVRAP3
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

Show/Hide all (2)

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

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438007	hsa-miR-485-5p	Luciferase reporter assay	24387992
MIRT438007	hsa-miR-485-5p	Luciferase reporter assay	24387992
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT734831	hsa-miR-194-5p	qRT-PCR	31885789
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT711972	hsa-miR-6865-3p	HITS-CLIP	19536157
MIRT711971	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT711970	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT711969	hsa-miR-1470	HITS-CLIP	19536157
MIRT711968	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT711967	hsa-miR-4780	HITS-CLIP	19536157
MIRT711966	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT711965	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT711964	hsa-miR-4469	HITS-CLIP	19536157
MIRT711963	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT789767	hsa-miR-1286	CLIP-seq
MIRT789768	hsa-miR-1287	CLIP-seq
MIRT789769	hsa-miR-214	CLIP-seq
MIRT789770	hsa-miR-329	CLIP-seq
MIRT789771	hsa-miR-3619-5p	CLIP-seq
MIRT789772	hsa-miR-362-3p	CLIP-seq
MIRT789773	hsa-miR-377	CLIP-seq
MIRT789774	hsa-miR-3944-5p	CLIP-seq
MIRT789775	hsa-miR-4530	CLIP-seq
MIRT789776	hsa-miR-4711-5p	CLIP-seq
MIRT789777	hsa-miR-4722-5p	CLIP-seq
MIRT789778	hsa-miR-4764-5p	CLIP-seq
MIRT789779	hsa-miR-4768-3p	CLIP-seq
MIRT789780	hsa-miR-761	CLIP-seq
MIRT789781	hsa-miR-579	CLIP-seq
MIRT789782	hsa-miR-645	CLIP-seq

Show/Hide all (9)

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

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005543	Function	Phospholipid binding	IBA
GO:0005543	Function	Phospholipid binding	IDA	12810715
GO:0005576	Component	Extracellular region	IDA	11577099
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	18635818, 19121291
GO:0005768	Component	Endosome	IEA
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	IEA
GO:0006641	Process	Triglyceride metabolic process	IMP	12417525, 14729863, 17142127
GO:0006869	Process	Lipid transport	IDA	15178420
GO:0006869	Process	Lipid transport	IEA
GO:0008201	Function	Heparin binding	IDA	15878877, 17326667
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008289	Function	Lipid binding	IDA	12810715
GO:0008289	Function	Lipid binding	IEA
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	18635818
GO:0010902	Process	Positive regulation of very-low-density lipoprotein particle remodeling	IDA	16806135, 18635818
GO:0019433	Process	Triglyceride catabolic process	IMP	15178420
GO:0019899	Function	Enzyme binding	IDA	15178420
GO:0031210	Function	Phosphatidylcholine binding	IDA	16806135
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033700	Process	Phospholipid efflux	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	15528295
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	IDA	15528295
GO:0034364	Component	High-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IDA	15528295
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034370	Process	Triglyceride-rich lipoprotein particle remodeling	IEA
GO:0034447	Process	Very-low-density lipoprotein particle clearance	IDA	15178420
GO:0035473	Function	Lipase binding	IPI	15178420, 16806135
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042246	Process	Tissue regeneration	IEP	11577099
GO:0042627	Component	Chylomicron	IBA
GO:0042627	Component	Chylomicron	IDA	15528295
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IDA	19121291
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	18635818
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:0055090	Process	Acylglycerol homeostasis	IBA
GO:0055090	Process	Acylglycerol homeostasis	IDA	11588264
GO:0055090	Process	Acylglycerol homeostasis	IEA
GO:0055090	Process	Acylglycerol homeostasis	IMP	15178420
GO:0060228	Function	Phosphatidylcholine-sterol O-acyltransferase activator activity	IBA
GO:0060229	Function	Lipase activator activity	IMP	15178420
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	16806135, 18635818
GO:0070325	Function	Lipoprotein particle receptor binding	IPI	18635818
GO:0070328	Process	Triglyceride homeostasis	IDA	19121291
GO:0070328	Process	Triglyceride homeostasis	IMP	18635818
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:1903561	Component	Extracellular vesicle	IBA

MIM	HGNC	e!Ensembl
606368	17288	ENSG00000110243

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

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

Tissue specificity

TISSUE SPECIFICITY: Liver and plasma. {ECO:0000269|PubMed:11577099, ECO:0000269|PubMed:11588264, ECO:0000269|PubMed:15528295}.

Sequence

MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSL
EQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGW
NLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRV
VHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFT
RAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGH
SHLGDP

Sequence length

366

Interactions

View interactions

	KEGG		Reactome
	PPAR signaling pathway		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

199

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs761704440, rs758216033, rs755144803, rs1341621315, rs2540246645, rs201079485, rs774150500	RCV002335151 RCV002409701 RCV002403354 RCV004661629 RCV003339156 RCV002436266 RCV003166584
Familial type 5 hyperlipoproteinemia	Pathogenic; Likely pathogenic	rs121917821, rs1941014739, rs201079485, rs774150500, rs1940989106	RCV000004654 RCV003134709 RCV002289560 RCV002246249 RCV001290185
Hyperlipoproteinemia	Pathogenic	rs201079485	RCV005896583
Hypertriglyceridemia	Pathogenic	rs201079485	RCV001249015
Hypertriglyceridemia 1	Pathogenic; Likely pathogenic	rs201079485, rs774150500	RCV000768551 RCV001836651

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
APOA5-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs147142271, rs144178633, rs778540867, rs372791079, rs1565325016, rs989332330, rs147528707, rs1246031494	RCV003966173 RCV003958785 RCV003923750 RCV003896172 RCV003422462 RCV003924087 RCV004755928 RCV004756204
Gastric cancer	Benign; Likely benign	rs144178633	RCV005928175
Hyperlipoproteinemia, type I	Uncertain significance	rs1246031494	RCV001256824

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	22675253
Adenomatous Polyposis Coli	Associate	40353385
Aortic Diseases	Associate	19910639
Aortic Valve Stenosis	Associate	27152866
Atherosclerosis	Associate	14729863, 16474174, 17157483, 18537870, 19910639, 21463987
Bicuspid Aortic Valve Disease	Associate	36071494
Breast Neoplasms	Associate	33492284
Carcinoma Hepatocellular	Associate	37248957
Cardiovascular Diseases	Associate	12671030, 15342688, 15447887, 18159097, 20490738, 21054477, 21209257, 24725463, 26824674, 36071387, 36690263
Carotid Stenosis	Associate	21463987
Cerebral Arterial Diseases	Associate	26824674
Cerebral Infarction	Associate	18577813, 27415775, 28635360
Coronary Artery Disease	Associate	15604515, 16258166, 16769999, 18801202, 19159622, 19878569, 19910639, 20802161, 23050023, 25034063, 27257688, 28257648, 29263402, 29310573, 29866721 View all (4 more)
Coronary Artery Disease	Inhibit	19185864
Coronary Disease	Associate	14729863, 17032446, 20452521, 25502724, 26387083, 27716220, 29866721, 32437778
Coronary Occlusion	Associate	19878569
COVID 19	Associate	18324930
Coxa Magna	Associate	25515090
Diabetes Mellitus	Inhibit	15961791, 32134946
Diabetes Mellitus	Associate	15961791, 17032446, 17197160, 27322064
Diabetes Mellitus Type 2	Associate	15636639, 17197160, 24690159, 27322064, 30600310, 35886029
Diabetic Nephropathies	Associate	36071387
Dyslipidemias	Associate	19910639, 21889769, 22517333, 22840581, 23254630, 24191141, 24721317, 26365669, 27716220, 28610615, 31929604, 32437778, 35461093, 36419087, 40428368
Dyslipidemias	Inhibit	32134946
Episodic Ataxia	Associate	31903892
Glucose Metabolism Disorders	Associate	17922054
Heart Failure	Associate	35964012
HIV Infections	Associate	24191141
Hyperglycemia	Associate	35854768
Hyperkeratosis lenticularis perstans	Associate	21463987
Hyperlipidemia Familial Combined	Associate	17157483
Hyperlipidemias	Associate	12671030, 19034316, 21463987, 24646025, 27777315
Hyperlipoproteinemia Type I	Associate	16200213, 26079787, 29288010, 29748148, 30948399, 32375710, 36978188
Hyperlipoproteinemia Type III	Associate	19034316, 38044203
Hyperlipoproteinemia Type V	Associate	16861622, 19656773
Hypertension	Associate	25587205, 30929539
Hypertension	Inhibit	32134946
Hypertriglyceridemia	Associate	12709436, 15636639, 16200213, 16365833, 16907993, 17457003, 17722232, 17919884, 17922054, 18424353, 18441017, 19056598, 19159622, 20429872, 20490738 View all (27 more)
Hypertriglyceridemia	Stimulate	16861622
Hypertriglyceridemic Waist	Associate	17457003, 24387992, 25843152, 29211729, 36921196
Hypoalphalipoproteinemias	Associate	12671030
Hypobetalipoproteinemia Familial Apolipoprotein B	Associate	18324930
Hypoglycemia	Associate	24690159
Inflammation	Associate	37248957
Insulin Resistance	Inhibit	32382544
Insulin Resistance	Associate	34422134
Kidney Failure Chronic	Associate	36071387
Labor Pain	Associate	26824674
Lipid Metabolism Disorders	Associate	25515090
Metabolic Diseases	Inhibit	32134946
Metabolic Diseases	Associate	36690263
Metabolic Syndrome	Associate	12697303, 17768309, 17922054, 18159097, 18789138, 19828688, 20054229, 21054477, 21324458, 23509746, 24618354, 25646961, 26365620, 26824674, 27051036 View all (7 more)
Microsatellite Instability	Associate	37248957
Myocardial Infarction	Associate	25487149, 35058120
Myocardial Ischemia	Associate	17922054
Neoplasms	Associate	36690263
Neoplasms Adipose Tissue	Associate	25137265, 35461093, 35745158, 38497884
Nervous System Diseases	Associate	31397093
Non alcoholic Fatty Liver Disease	Associate	33567543
Obesity	Associate	16474174, 18537870, 19629056, 20134407, 21209257, 24023260, 24903888, 25137265, 26365669, 27322064, 28927406, 31662442, 33500527, 33983957, 34422134, 35745158, 38497884 View all (2 more)
Overweight	Associate	24903888, 28927406
Pancreatitis	Associate	17032446, 26079787, 30948399, 31901151, 37768328
Pneumonia Lipid	Associate	25005712
Prostatic Neoplasms	Associate	24623848
Pulmonary Arterial Hypertension	Associate	24684850
Renal Insufficiency Chronic	Associate	25311932, 29016630
Severe Acute Respiratory Syndrome	Associate	23151256, 30420299
Sleep Apnea Obstructive	Associate	30600310
Spastic Paraplegia Hereditary	Associate	24529129
Stiff Skin Syndrome	Associate	29211729
Stroke	Associate	17922054, 18577813
Thrombophilia	Associate	37098010
Vascular Diseases	Associate	18159097, 25034063
Weight Loss	Associate	25137265, 34422134, 35745158

APOA5 (apolipoprotein A5)