Gene_Locus Report

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Gene_locus Report for: human-LIPE

Human mRNA (Human) hormone sensitive lipase HSL

Comment
In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. (from OMIM) Albert et al. (2014) sequenced 12 lipolytic-pathway genes in 24 Old Order Amish individuals whose fasting serum triglyceride levels were at the extremes of the distribution, and detected a 19-bp deletion in the LIPE gene in an individual whose triglyceride level was at the upper extreme. Genotyping for the LIPE deletion in 2,738 participants in the Amish Complex Disease Research Program identified 1 individual who was homozygous for the deletion ('DD' genotype) and 140 heterozygotes. Homozygous individuals exhibited impaired lipolysis and showed evidence for redistribution of body fat as well as altered metabolic traits, including systemic insulin resistance and diabetes. Carriers of the deletion had an increased risk of metabolic dysfunction. In an Italian sister and brother from a consanguineous family with a late-onset form of partial lipodystrophy, originally reported by Carboni et al. (2014), Farhan et al. (2014) performed genomewide autozygosity mapping and whole-exome sequencing, and identified a frameshift mutation in the LIPE gene that segregated with disease in the family. Sollier et al. (2021) describe four novel mutations in three patients and model the disease using stem cells


Relationship
Family|Hormone-sensitive_lipase_like
Block| H
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
8 mutations: Table (e.g. : A507fsX_human-LIPE, E1035X_human-LIPE, E943GfsX22_human-LIPE ... more)
No structure
No kinetic

Disease: Lipodystrophy, familial partial, type 6 -



2 substrates: 2,3-Dimercapto-1-propanol-tributyrate, NBD-MAG
3 inhibitors: CHEMBL49895, Compound-7600, Compound-9368
>3 Genbank links 1 more: L11706, U40002, BC070041
2 UniProt : Q05469, A8K8W7
1 Ncbi-nid : 896474 1488677
2 UniProt : Q05469, A8K8W7
2 Interpro : Q05469, A8K8W7
2 Prodom : Q05469, A8K8W7
2 Pfam : Q05469, A8K8W7
2 PIRSF : Q05469, A8K8W7
2 SUPERFAM : Q05469, A8K8W7
1 EntrezGene : 3991
1 SNP : 3991
1 UniGene : 656980
1 HUGO HGNC : 6621
1 IUPHAR : 2593
1 OMIM : 151750
1 Ensembl : ENSG00000079435
Sequence
Graphical view for this peptide sequence: human-LIPE
Colored MSA for Hormone-sensitive_lipase_like (raw)
MDLRTMTQSLVTLAEDNIAFFSSQGPGETAQRLSGVFAGVREQALGLEPA
LGLLGVAHLFDLDPETPANGYRSLVHTARCCLAHLLHKSRYVASNRRSIF
FCTSHNLAELEAYLAALTQLRALVYYAQRLLVTNRPGVLFFEGDEGLTAD
FLREYVTLHKGCFYGRCLGFQFTPAIRPFLQTISIGLVSFGEHYKRNETG
LSVAASSLFTSGRFAIDPELRGAEFERITQNLDVHFWKAFWNITEMEVLS
SLANMASATVRVSRLLSLPPEAFEMPLTADPTLTVTISPPLAHTGPGPVL
VRLISYDLREGQDSEELSSLIKSNGQRSLELWPAPQQAPRSRPLIVHFHG
GGFVAQTSRSHEPYLKSWAQELGAPIISIDYSLAPEAPFPRALEECFFAY
CWAIKHCALLGSTGERICLAGDSAGGNLCFTVALRAAAYGVRVPDGIMAA
YPATMLQPAASPSRLLSLMDPLLPLSVLSKCVSAYAGAKTEDHSNSDQKA
LGMMGLVRRDTALLLRDFRLGASSWLNSFLELSGRKSQKMSEPIAEPMRR
SVSEAALAQPQGPLGTDSLKNLTLRDLSLRGNSETSSDTPEMSLSAETLS
PSTPSDVNFLLPPEDAGEEAEAKNELSPMDRGLGVRAAFPEGFHPRRSSQ
GATQMPLYSSPIVKNPFMSPLLAPDSMLKSLPPVHIVACALDPMLDDSVM
LARRLRNLGQPVTLRLVEDLPHGFLTLAALCRDGPGRRAVRGAHPPRPHS
SRRSRAERGDGGCGGRRGLRGATLKACCSHLRRPPS
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MDLRTMTQSLVTLAEDNIAFFSSQGPGETAQRLSGVFAGVREQALGLEPA
LGLLGVAHLFDLDPETPANGYRSLVHTARCCLAHLLHKSRYVASNRRSIF
FCTSHNLAELEAYLAALTQLRALVYYAQRLLVTNRPGVLFFEGDEGLTAD
FLREYVTLHKGCFYGRCLGFQFTPAIRPFLQTISIGLVSFGEHYKRNETG
LSVAASSLFTSGRFAIDPELRGAEFERITQNLDVHFWKAFWNITEMEVLS
SLANMASATVRVSRLLSLPPEAFEMPLTADPTLTVTISPPLAHTGPGPVL
VRLISYDLREGQDSEELSSLIKSNGQRSLELWPAPQQAPRSRPLIVHFHG
GGFVAQTSRSHEPYLKSWAQELGAPIISIDYSLAPEAPFPRALEECFFAY
CWAIKHCALLGSTGERICLAGDSAGGNLCFTVALRAAAYGVRVPDGIMAA
YPATMLQPAASPSRLLSLMDPLLPLSVLSKCVSAYAGAKTEDHSNSDQKA
LGMMGLVRRDTALLLRDFRLGASSWLNSFLELSGRKSQKMSEPIAEPMRR
SVSEAALAQPQGPLGTDSLKNLTLRDLSLRGNSETSSDTPEMSLSAETLS
PSTPSDVNFLLPPEDAGEEAEAKNELSPMDRGLGVRAAFPEGFHPRRSSQ
GATQMPLYSSPIVKNPFMSPLLAPDSMLKSLPPVHIVACALDPMLDDSVM
LARRLRNLGQPVTLRLVEDLPHGFLTLAALCRDGPGRRAVRGAHPPRPHS
SRRSRAERGDGGCGGRRGLRGATLKACCSHLRRPPS


References
26 more
    Title: Hormone-sensitive lipase is required for high-density lipoprotein cholesteryl ester-supported adrenal steroidogenesis
    Kraemer FB, Shen WJ, Harada K, Patel S, Osuga J, Ishibashi S, Azhar S
    Ref: Mol Endocrinol, 18:549, 2004 : PubMed

            

    Title: Hormone-sensitive lipase--new roles for an old enzyme
    Yeaman SJ
    Ref: Biochemical Journal, 379:11, 2004 : PubMed

            

    Title: Hormone-sensitive lipase is not required for cholesteryl ester hydrolysis in macrophages
    Contreras JA
    Ref: Biochemical & Biophysical Research Communications, 292:900, 2002 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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