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3991 LIPE

3991

LIPE

lipase E, hormone sensitive type

protein-coding

Homo sapiens

基因描述

Type Description
Definition lipase E, hormone sensitive type

研究结论

Date Results Publications
2020-03-07 12:16:00 HSL regulates vitamin A metabolism in quiescent hepatic stellate cells. 31150775
2017-10-21 10:40:00 The homozygous null LIPE mutation could result in marked inhibition of lipolysis from some adipose tissue depots and thus may induce an extremely rare phenotype of MSL and partial lipodystrophy in adulthood associated with complications of insulin resistance, such as diabetes, hypertriglyceridemia and hepatic steatosis. 27862896
2015-10-03 11:34:00 Despite reductions in intramyocellular lipolysis and HSL expression, overexpression of HSL did not rescue defects in insulin action in skeletal myotubes from obese type 2 diabetic subjects. 25819461
2015-04-04 11:48:00 Identification of a homozygous nonsense variant p.Ala507fsTer563 in hormone sensitive lipase as the likely cause of the lipodystrophy phenotype in siblings. 25475467
2014-06-28 13:23:00 These findings indicate the physiological significance of HSL in adipocyte function and the regulation of systemic lipid and glucose homeostasis and underscore the severe metabolic consequences of impaired lipolysis. 24848981

名称对应

Type IDs
Synonymous AOMS4, FPLD6, HSL, LHS
Gene
UniProtKB-ID: LIPS_HUMAN, A8K8W7_HUMAN
UniprotKB: Q05469, A8K8W7
UniParc: UPI000013CB66, UPI00015DAA42, UPI000012E71E
EMBL: U40001, AK292482, DQ188033, BC070041, L11706
Ensembl: ENSG00000079435
KO: hsa:3991
Nucleutide sequences
EMBL-CDS: AAA69810.1, AAC50666.1, ABA03168.1, AAH70041.1, BAF85171.1
Ensembl_TRS: ENST00000244289
Protein sequencees
Ensembl_PRO: ENSP00000244289
RefSeq: XP_005258996.2, XP_005258994.1, XP_006723281.1, XP_016882299.1, XP_024307282.1, XP_005258997.1, XP_005258995.1, NP_005348.2
Others
UniRef100: UniRef100_A8K8W7, UniRef100_Q05469
UniRef90: UniRef90_Q05469
UniRef50: UniRef50_Q05469
UniGene: Hs.656980
CCDS: CCDS12607.1

全选

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