PLIN1 (perilipin 1)

Gene

• Entrez ID: 5346
• Gene name: Perilipin 1
• Gene symbol: PLIN1
• Synonyms (NCBI Gene): FPLD4, PERI, PLIN
• Disease Acronyms (UniProt): FPLD4
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, whe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146385147	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1567075176	C>A	Pathogenic	Splice acceptor variant
rs1567075667	CT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648325	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT648326	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648325	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT648326	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT1242762	hsa-miR-1284	CLIP-seq
MIRT1242763	hsa-miR-142-5p	CLIP-seq
MIRT1242764	hsa-miR-3074-3p	CLIP-seq
MIRT1242765	hsa-miR-4318	CLIP-seq
MIRT1242766	hsa-miR-4474-3p	CLIP-seq
MIRT1242767	hsa-miR-4796-5p	CLIP-seq
MIRT1242768	hsa-miR-659	CLIP-seq
MIRT1242769	hsa-miR-204	CLIP-seq
MIRT1242770	hsa-miR-211	CLIP-seq
MIRT1242771	hsa-miR-219-5p	CLIP-seq
MIRT1242772	hsa-miR-3920	CLIP-seq
MIRT1242773	hsa-miR-3973	CLIP-seq
MIRT1242774	hsa-miR-4445	CLIP-seq
MIRT1242775	hsa-miR-4755-5p	CLIP-seq
MIRT1242776	hsa-miR-4782-3p	CLIP-seq
MIRT1242777	hsa-miR-508-3p	CLIP-seq
MIRT1242778	hsa-miR-520g	CLIP-seq
MIRT1242779	hsa-miR-520h	CLIP-seq
MIRT1242780	hsa-miR-562	CLIP-seq
MIRT1242781	hsa-miR-623	CLIP-seq
MIRT2298878	hsa-miR-148a	CLIP-seq
MIRT2298879	hsa-miR-148b	CLIP-seq
MIRT2298880	hsa-miR-152	CLIP-seq
MIRT2298881	hsa-miR-1827	CLIP-seq
MIRT2298882	hsa-miR-2467-3p	CLIP-seq
MIRT2298883	hsa-miR-4276	CLIP-seq
MIRT2456689	hsa-miR-216b	CLIP-seq
MIRT2456690	hsa-miR-2278	CLIP-seq
MIRT2456691	hsa-miR-3978	CLIP-seq
MIRT2456692	hsa-miR-4261	CLIP-seq
MIRT2456693	hsa-miR-4427	CLIP-seq
MIRT2456694	hsa-miR-4680-3p	CLIP-seq
MIRT2456695	hsa-miR-4690-5p	CLIP-seq
MIRT2456696	hsa-miR-515-5p	CLIP-seq
MIRT2456697	hsa-miR-548c-3p	CLIP-seq
MIRT2456698	hsa-miR-553	CLIP-seq
MIRT2456699	hsa-miR-604	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	17272828
RELA	Activation	17272828

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005811	Component	Lipid droplet	NAS	9521880
GO:0005811	Component	Lipid droplet	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006629	Process	Lipid metabolic process	NAS	9521880
GO:0008289	Function	Lipid binding	NAS	9521880
GO:0016042	Process	Lipid catabolic process	IEA

Other IDs

• MIM: 170290
• HGNC: 9076
• e!Ensembl: ENSG00000166819

Protein

• UniProt ID: O60240
• Protein name: Perilipin-1 (Lipid droplet-associated protein)
• Protein function: Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03036	Perilipin	13 → 414	Perilipin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in adipocytes from white adipose tissue (at protein level) (PubMed:27832861). Detected in visceral adipose tissue and mammary gland (PubMed:9521880). {ECO:0000269|PubMed:27832861, ECO:0000269|PubMed:9521880}.
• Sequence:

  MAVNKGLTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYTSTKEAHPLVASVCNAYEK
  GVQSASSLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKDTI
  STRLRSARNSISVPIASTSDKVLGAALAGCELAWGVARDTAEFAANTRAGRLASGGADLA
  LGSIEKVVEYLLPPDKEESAPAPGHQQAQKSPKAKPSLLSRVGALTNTLSRYTVQTMARA
  LEQGHTVAMWIPGVVPLSSLAQWGASVAMQAVSRRRSEVRVPWLHSLAAAQEEDHEDQTD
  TEGEDTEEEEELETEENKFSEVAALPGPRGLLGGVAHTLQKTLQTTISAVTWAPAAVLGM
  AGRVLHLTPAPAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFRDID
  NPPAEVERREAERRASGAPSAGPEPAPRLAQPRRSLRSAQSPGAPPGPGLEDEVATPAAP
  RPGFPAVPREKPKRRVSDSFFRPSVMEPILGRTHYSQLRKKS

• Sequence length: 522

Pathways

KEGG:

PPAR signaling pathway
Apelin signaling pathway
Thermogenesis
Regulation of lipolysis in adipocytes

Reactome:

Transcriptional regulation of white adipocyte differentiation
NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, 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, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, 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, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, 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, 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, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180
Hypertension	Hypertensive disease	rs13306026
Lipodystrophy	Lipodystrophy, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4	rs553668, rs766817317	30020498, 25695774, 21345103
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	15001633
Partial lipodystrophy	Familial partial lipodystrophy, Familial Partial Lipodystrophy, Type 1, Familial Partial Lipodystrophy, Type 2, Familial Partial Lipodystrophy, Type 3, PLIN1-related familial partial lipodystrophy	rs121909244, rs72551362, rs72551363, rs72551364, rs121909245, rs121909246, rs28928900, rs57520892, rs60864230, rs57920071, rs61282106, rs61214927, rs1567075176, rs1567075667, rs587776968, rs267607555, rs59981161, rs57629361, rs56793579, rs57077886, rs1553643326, rs148195788, rs1553647989, rs1378972597, rs1553650477, rs1553653993, rs770557781

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acth Independent Macronodular Adrenal Hyperplasia	Inhibit	38098864
Acute Coronary Syndrome	Associate	31877397
Adenocarcinoma	Associate	20081801
Atherosclerosis	Associate	35662076
Breast Neoplasms	Associate	25751270, 32110804, 33380715
Breast Neoplasms	Inhibit	31292488
Carcinoma Hepatocellular	Associate	20081801, 39215210
Cardiovascular Diseases	Inhibit	34875679
Cardiovascular Diseases	Associate	35235652
Coronary Disease	Associate	34883250
Diabetes Gestational	Associate	25118138
Diabetes Mellitus	Associate	18356850, 31504636, 37843309
Diabetes Mellitus Type 2	Associate	18356850, 19782423, 27611592, 34883250, 35235652, 35886029
Diabetic Foot	Associate	38453058
Dyslipidemias	Associate	21345103
Embolism Fat	Associate	18388185
Fatty Liver	Associate	36611868
Feeding and Eating Disorders	Associate	27629052
Genetic Diseases Inborn	Associate	21345103
Glucose Intolerance	Associate	19782423
Glucose Metabolism Disorders	Associate	37843309
Head and Neck Neoplasms	Associate	32803726
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	37181035
Hyperinsulinism	Associate	31504636
Hypertension	Associate	15601966, 35235652
Hypoglycemia	Associate	37843309
Hypoxia	Stimulate	29348564
Immunologic Deficiency Syndromes	Associate	21345103
Inflammation	Associate	35662076, 38453058
Insulin Resistance	Associate	21193293, 21345103, 22949029, 28860604, 30020498, 31504636, 37843309
Leiomyoma	Associate	29348564
Lipodystrophy	Associate	21345103, 30940487, 31504636, 35235652
Lipodystrophy Familial Partial	Associate	21345103, 31504636
Liposarcoma	Associate	20081801, 25650275, 31125552
Liposarcoma Myxoid	Stimulate	31125552
Malnutrition	Associate	32803726
MASS syndrome	Associate	32803726
Metabolic Syndrome	Associate	18326614, 18812483
Myocardial Infarction	Associate	35235652
Myotonic Dystrophy	Associate	36931749
Neoplasms	Associate	20081801, 31125552, 35541892, 39215210
Neoplasms	Inhibit	32110804
Neoplasms Adipose Tissue	Associate	19850727
Non alcoholic Fatty Liver Disease	Associate	20032580
Obesity	Associate	12917496, 15078502, 15601966, 15601970, 18326614, 18356850, 18806092, 18812483, 19782423, 19850727, 20495294, 21285405, 27611592, 27629052, 28274232, 28627196, 28860604, 34208363, 35893926, 36931749, 37843309
Obesity	Inhibit	20017959, 22836687
Plaque Atherosclerotic	Associate	11557743
Polycystic Ovary Syndrome	Associate	19782423, 31504636, 33228780
Polycystic Ovary Syndrome	Inhibit	25342854
Pulmonary Edema	Associate	34883250
Radiation Injuries	Associate	32803726
Tooth Loss	Associate	32803726
Triple Negative Breast Neoplasms	Inhibit	25751270
Triple Negative Breast Neoplasms	Associate	31537618
Weight Loss	Associate	18812483, 19265796, 27629052, 28578327, 34208363, 34883250, 37843309
Weight Loss	Stimulate	26663986