LIPE (lipase E, hormone sensitive type)

Gene

• Entrez ID: 3991
• Gene name: Lipase E, hormone sensitive type
• Gene symbol: LIPE
• Synonyms (NCBI Gene): AOMS4, FPLD6, HSL, LHS, REH
• Disease Acronyms (UniProt): AOMS4, FPLD6
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for ster

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1110590	hsa-miR-15a	CLIP-seq
MIRT1110591	hsa-miR-15b	CLIP-seq
MIRT1110592	hsa-miR-16	CLIP-seq
MIRT1110593	hsa-miR-195	CLIP-seq
MIRT1110594	hsa-miR-3714	CLIP-seq
MIRT1110595	hsa-miR-424	CLIP-seq
MIRT1110596	hsa-miR-497	CLIP-seq
MIRT1110597	hsa-miR-545	CLIP-seq
MIRT1110598	hsa-miR-548an	CLIP-seq
MIRT1110599	hsa-miR-548p	CLIP-seq
MIRT1110590	hsa-miR-15a	CLIP-seq
MIRT1110591	hsa-miR-15b	CLIP-seq
MIRT1110592	hsa-miR-16	CLIP-seq
MIRT1110593	hsa-miR-195	CLIP-seq
MIRT1110594	hsa-miR-3714	CLIP-seq
MIRT1110595	hsa-miR-424	CLIP-seq
MIRT1110596	hsa-miR-497	CLIP-seq
MIRT1110597	hsa-miR-545	CLIP-seq
MIRT1110598	hsa-miR-548an	CLIP-seq
MIRT1110599	hsa-miR-548p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	17272828
PPARG	Activation	16269451
RELA	Activation	17272828

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004771	Function	Sterol esterase activity	IDA	8812477, 15716583
GO:0004806	Function	Triglyceride lipase activity	IDA	15716583, 15955102
GO:0005515	Function	Protein binding	IPI	17026959, 32296183
GO:0005811	Component	Lipid droplet	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005901	Component	Caveola	IEA
GO:0006468	Process	Protein phosphorylation	TAS	3420405
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	ISS
GO:0016042	Process	Lipid catabolic process	ISS
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0033878	Function	Hormone-sensitive lipase activity	IDA	8812477, 19800417
GO:0042572	Process	Retinol metabolic process	IEA
GO:0046340	Process	Diacylglycerol catabolic process	ISS
GO:0046485	Process	Ether lipid metabolic process	ISS
GO:0047372	Function	Acylglycerol lipase activity	ISS
GO:0050253	Function	Retinyl-palmitate esterase activity	IDA	15955102
GO:0102258	Function	1,3-diacylglycerol acylhydrolase activity	ISS
GO:0102259	Function	1,2-diacylglycerol acylhydrolase activity	ISS

Other IDs

• MIM: 151750
• HGNC: 6621
• e!Ensembl: ENSG00000079435

Protein

• UniProt ID: Q05469
• Protein name: Hormone-sensitive lipase (HSL) (EC 3.1.1.79) (Monoacylglycerol lipase LIPE) (EC 3.1.1.23) (Retinyl ester hydrolase) (REH)
• Protein function: Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583, PubMed:15955102, PubMed:19800417, PubMed:881
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06350	HSL_N	307 → 615	Hormone-sensitive lipase (HSL) N-terminus	Family
  PF07859	Abhydrolase_3	647 → 807	alpha/beta hydrolase fold	Domain
  PF07859	Abhydrolase_3	930 → 1028	alpha/beta hydrolase fold	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:8812477}.
• Sequence:

  MEPGSKSVSRSDWQPEPHQRPITPLEPGPEKTPIAQPESKTLQGSNTQQKPASNQRPLTQ
  QETPAQHDAESQKEPRAQQKSASQEEFLAPQKPAPQQSPYIQRVLLTQQEAASQQGPGLG
  KESITQQEPALRQRHVAQPGPGPGEPPPAQQEAESTPAAQAKPGAKREPSAPTESTSQET
  PEQSDKQTTPVQGAKSKQGSLTELGFLTKLQELSIQRSALEWKALSEWVTDSESESDVGS
  SSDTDSPATMGGMVAQGVKLGFKGKSGYKVMSGYSGTSPHEKTSARNHRHYQDTASRLIH
  NMDLRTMTQSLVTLAEDNIAFFSSQGPGETAQRLSGVFAGVREQALGLEPALGRLLGVAH
  LFDLDPETPANGYRSLVHTARCCLAHLLHKSRYVASNRRSIFFRTSHNLAELEAYLAALT
  QLRALVYYAQRLLVTNRPGVLFFEGDEGLTADFLREYVTLHKGCFYGRCLGFQFTPAIRP
  FLQTISIGLVSFGEHYKRNETGLSVAASSLFTSGRFAIDPELRGAEFERITQNLDVHFWK
  AFWNITEMEVLSSLANMASATVRVSRLLSLPPEAFEMPLTADPTLTVTISPPLAHTGPGP
  VLVRLISYDLREGQDSEELSSLIKSNGQRSLELWPRPQQAPRSRSLIVHFHGGGFVAQTS
  RSHEPYLKSWAQELGAPIISIDYSLAPEAPFPRALEECFFAYCWAIKHCALLGSTGERIC
  LAGDSAGGNLCFTVALRAAAYGVRVPDGIMAAYPATMLQPAASPSRLLSLMDPLLPLSVL
  SKCVSAYAGAKTEDHSNSDQKALGMMGLVRRDTALLLRDFRLGASSWLNSFLELSGRKSQ
  KMSEPIAEPMRRSVSEAALAQPQGPLGTDSLKNLTLRDLSLRGNSETSSDTPEMSLSAET
  LSPSTPSDVNFLLPPEDAGEEAEAKNELSPMDRGLGVRAAFPEGFHPRRSSQGATQMPLY
  SSPIVKNPFMSPLLAPDSMLKSLPPVHIVACALDPMLDDSVMLARRLRNLGQPVTLRVVE
  DLPHGFLTLAALCRETRQAAELCVERIRLVLTPPAGAGPSGETGAAGVDGGCGGRH

• Sequence length: 1076

Pathways

KEGG:

cAMP signaling pathway
AMPK signaling pathway
Apelin signaling pathway
Thermogenesis
Insulin signaling pathway
Regulation of lipolysis in adipocytes
Aldosterone synthesis and secretion

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
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
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	rs121913142
Lipodystrophy	Lipodystrophy, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LIPE-related familial partial lipodystrophy	rs553668, rs766817317	24848981, 25475467
Partial lipodystrophy	Familial partial lipodystrophy, Familial Partial Lipodystrophy, Type 1, Familial Partial Lipodystrophy, Type 2, Familial Partial Lipodystrophy, Type 3	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 Secreting Pituitary Adenoma	Associate	35216289
Breast Neoplasms	Associate	25751270, 27110560
Breast Neoplasms	Inhibit	31292488
Carcinoma Lobular	Associate	28124996
Colorectal Neoplasms	Associate	36849520
Coronary Disease	Associate	10946018
Diabetes Gestational	Inhibit	24262292, 25118138
Diabetes Mellitus	Stimulate	16940551
Diabetes Mellitus	Associate	23688034, 24848981, 27862896
Diabetes Mellitus Type 1	Stimulate	16940551
Diabetes Mellitus Type 2	Associate	24848981, 33788629
Dyslipidemias	Associate	23688034, 24848981
Fatty Liver	Associate	23688034, 24848981, 27862896
Genetic Diseases Inborn	Associate	34117072
Glucose Intolerance	Associate	23688034
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	37181035
Hyperthyroidism	Stimulate	17389707
Hypertriglyceridemia	Associate	27862896
Hypothyroidism	Associate	17389707
Infections	Inhibit	24478438
Infertility	Associate	30659447
Inflammation	Associate	24848981
Insulin Resistance	Associate	11731226, 19763090, 21498783, 23688034, 27862896
Lipodystrophy Familial Partial	Associate	27862896
Lipomatosis Multiple Symmetrical	Associate	27862896
Mental Disorders	Associate	19164092
Muscular Diseases	Associate	27862896
Neoplasms	Associate	20426789, 35088949
Neoplasms Adipose Tissue	Associate	21081832, 25541553, 32725188
Non alcoholic Fatty Liver Disease	Associate	23688034
Obesity	Associate	10553009, 18398140, 19763090, 20017959, 21081832, 22166762, 23688034, 23805277, 25132069, 27245338, 30659447
Obesity	Inhibit	10946012, 17327373, 21498783, 22166756
Obesity Abdominal	Associate	37361522
Obesity Maternal	Inhibit	24262292
Peripheral Nervous System Diseases	Associate	36741233
Polycystic Ovary Syndrome	Inhibit	17327373
Squamous Cell Carcinoma of Head and Neck	Associate	35098409
Thymoma	Inhibit	34104648
Weight Loss	Stimulate	26663986