• Gene id: 3991

Gene Summary

• Gene Symbol: LIPE   Gene   UCSC   Ensembl
• Aliases: AOMS4, FPLD6, HSL, LHS
• Gene name: lipase E, hormone sensitive type
• Alternate names: hormone-sensitive lipase, hormone-sensitive lipase testicular isoform, lipase, hormone-sensitive,
• Gene location: 19q13.2 (42427425: 42401506)     Exons: 15     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 151750

Protein Summary

• Protein general information: Q05469  
  • Name: Hormone sensitive lipase (HSL) (EC 3.1.1.79)
  • Length: 1076  
  • Mass: 116,598
• Sequence:

  MEPGSKSVSRSDWQPEPHQRPITPLEPGPEKTPIAQPESKTLQGSNTQQKPASNQRPLTQQETPAQHDAESQKEP
  RAQQKSASQEEFLAPQKPAPQQSPYIQRVLLTQQEAASQQGPGLGKESITQQEPALRQRHVAQPGPGPGEPPPAQ
  QEAESTPAAQAKPGAKREPSAPTESTSQETPEQSDKQTTPVQGAKSKQGSLTELGFLTKLQELSIQRSALEWKAL
  SEWVTDSESESDVGSSSDTDSPATMGGMVAQGVKLGFKGKSGYKVMSGYSGTSPHEKTSARNHRHYQDTASRLIH
  NMDLRTMTQSLVTLAEDNIAFFSSQGPGETAQRLSGVFAGVREQALGLEPALGRLLGVAHLFDLDPETPANGYRS
  LVHTARCCLAHLLHKSRYVASNRRSIFFRTSHNLAELEAYLAALTQLRALVYYAQRLLVTNRPGVLFFEGDEGLT
  ADFLREYVTLHKGCFYGRCLGFQFTPAIRPFLQTISIGLVSFGEHYKRNETGLSVAASSLFTSGRFAIDPELRGA
  EFERITQNLDVHFWKAFWNITEMEVLSSLANMASATVRVSRLLSLPPEAFEMPLTADPTLTVTISPPLAHTGPGP
  VLVRLISYDLREGQDSEELSSLIKSNGQRSLELWPRPQQAPRSRSLIVHFHGGGFVAQTSRSHEPYLKSWAQELG
  APIISIDYSLAPEAPFPRALEECFFAYCWAIKHCALLGSTGERICLAGDSAGGNLCFTVALRAAAYGVRVPDGIM
  AAYPATMLQPAASPSRLLSLMDPLLPLSVLSKCVSAYAGAKTEDHSNSDQKALGMMGLVRRDTALLLRDFRLGAS
  SWLNSFLELSGRKSQKMSEPIAEPMRRSVSEAALAQPQGPLGTDSLKNLTLRDLSLRGNSETSSDTPEMSLSAET
  LSPSTPSDVNFLLPPEDAGEEAEAKNELSPMDRGLGVRAAFPEGFHPRRSSQGATQMPLYSSPIVKNPFMSPLLA
  PDSMLKSLPPVHIVACALDPMLDDSVMLARRLRNLGQPVTLRVVEDLPHGFLTLAALCRETRQAAELCVERIRLV
  LTPPAGAGPSGETGAAGVDGGCGGRH

• Structural information:
  • Interpro: IPR029058  IPR013094  IPR010468  IPR002168  IPR033140  
  • Prosite: PS01173 PS01174
  • STRING: ENSP00000244289
• Other Databases: GeneCards:  LIPE  Malacards:  LIPE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid particle	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0006468	protein phosphorylation	TAS	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	ISS	biological process
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0033878	hormone-sensitive lipase activity	IEA	molecular function
GO:0042758	long-chain fatty acid catabolic process	IEA	biological process
GO:0046340	diacylglycerol catabolic process	IEA	biological process
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005811	lipid particle	IEA	cellular component
GO:0005811	lipid particle	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0006468	protein phosphorylation	TAS	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016042	lipid catabolic process	ISS	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016298	lipase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0033878	hormone-sensitive lipase activity	IEA	molecular function
GO:0042758	long-chain fatty acid catabolic process	IEA	biological process
GO:0046340	diacylglycerol catabolic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid particle	ISS	cellular component
GO:0006468	protein phosphorylation	TAS	biological process
GO:0016042	lipid catabolic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa00640	Propanoate metabolism
hsa00140	Steroid hormone biosynthesis
hsa00561	Glycerolipid metabolism
hsa00982	Drug metabolism - cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa03015	mRNA surveillance pathway
hsa04120	Ubiquitin mediated proteolysis
hsa04024	cAMP signaling pathway
hsa04152	AMPK signaling pathway
hsa04910	Insulin signaling pathway
hsa04923	Regulation of lipolysis in adipocytes
hsa04925	Aldosterone synthesis and secretion
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 20855565
Hypertension	GAD: 17318300
Obesity	GAD: 15871848
Chronic renal failure	GAD: 21085059
Azoospermia	GAD: 19369647
Preeclampsia	GAD: 17318300
Male factor infertility	MIK: 7192222
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21919688
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Shows a dramatic reduction in sperm counts and motility and are infertile	MIK: 17886267
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
7192222	Male infertility				Male infertility
21919688	Male infertility	HSL(C-60G polymorphism)	Iranian	333 (164 fertile, 169 infertile males)	Male infertility	HSL
19369647	Male infertility	SBF1 (T5A, F75L, E335K, K486E, R1059K, A1119V, L1693V), LIMK2 (G35S, D45N, R213C, P296R, R418C), LIPE(Y100H, Q127H, P146S, S177T, A194V, R217Q, R217L, K497N, N499H, R611C, G742R, R938S)		78 infertile men	Male infertility	SBF1 LIMK2 LIPE TBPL1
17886267	Shows a dramatic reduction in sperm counts and motility and are infertile				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq