LIPE lipase E, hormone sensitive type [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIPEprovided by HGNC
Official Full Name: lipase E, hormone sensitive typeprovided by HGNC
Primary source: HGNC:HGNC:6621
See related: Ensembl:ENSG00000079435 MIM:151750; AllianceGenome:HGNC:6621
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSL; LHS; REH; AOMS4; FPLD6
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 steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 187.4) and testis (RPKM 12.7) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (42401514..42427388, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (45220900..45246776, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42905666..42931540, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Habitual nappers and non-nappers differ in circadian rhythms of LIPE expression in abdominal adipose tissue explants.
Title: Habitual nappers and non-nappers differ in circadian rhythms of LIPE expression in abdominal adipose tissue explants.
Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
Title: Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
Dietary fat content and adipose triglyceride lipase and hormone-sensitive lipase gene expressions in adults' subcutaneous and visceral fat tissues.
Title: Dietary fat content and adipose triglyceride lipase and hormone-sensitive lipase gene expressions in adults' subcutaneous and visceral fat tissues.
HSL regulates vitamin A metabolism in quiescent hepatic stellate cells.
Title: Hormone-sensitive lipase is a retinyl ester hydrolase in human and rat quiescent hepatic stellate cells.
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.
Title: Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
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.
Title: Primary defects in lipolysis and insulin action in skeletal muscle cells from type 2 diabetic individuals.
Identification of a homozygous nonsense variant p.Ala507fsTer563 in hormone sensitive lipase as the likely cause of the lipodystrophy phenotype in siblings.
Title: A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.
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.
Title: Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.
Serum triglyceride was significantly up-regulated in men with the (CG + GG) genotype of HSL promoter polymorphism.
Title: Risk interaction of obesity, insulin resistance and hormone-sensitive lipase promoter polymorphisms (LIPE-60 C > G) in the development of fatty liver.
M. leprae suppresses lipid degradation through inhibition of HSL expression.
Title: Essential role of hormone-sensitive lipase (HSL) in the maintenance of lipid storage in Mycobacterium leprae-infected macrophages.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
LIPE-related familial partial lipodystrophy MedGen: C4014869 OMIM: 615980 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79209 (e-PCR)
- UniSTS:35077

RH78664 (e-PCR)
- UniSTS:82188

RH98494 (e-PCR)
- UniSTS:88588

LIPEHSP92I (e-PCR)
- UniSTS:253261

LIPE (e-PCR)
- UniSTS:504426

G15903 (e-PCR)
- UniSTS:24009

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1,2-diacylglycerol acylhydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 1,3-diacylglycerol acylhydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acylglycerol lipase activity	ISS Inferred from Sequence or Structural Similarity more info
enables all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity	IEA Inferred from Electronic Annotation more info
enables hormone-sensitive lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinyl-palmitate esterase activity	IDA Inferred from Direct Assay more info	PubMed
enables sterol esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol esterase activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in diacylglycerol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ether lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in caveola	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: hormone-sensitive lipase

Names: lipase, hormone-sensitive; monoacylglycerol lipase LIPE; retinyl ester hydrolase

NP_001403029.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403030.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403031.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403032.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403033.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403034.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403035.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403036.1

EC 3.1.1.23

EC 3.1.1.79

NP_001403037.1

EC 3.1.1.23

EC 3.1.1.79

NP_005348.2

EC 3.1.1.23

EC 3.1.1.79

XP_005258994.1

EC 3.1.1.23

EC 3.1.1.79

XP_005258996.2

EC 3.1.1.23

EC 3.1.1.79

XP_006723281.1

EC 3.1.1.23

EC 3.1.1.79

XP_047294791.1

EC 3.1.1.23

EC 3.1.1.79

XP_047294792.1

EC 3.1.1.23

EC 3.1.1.79

XP_054176996.1

EC 3.1.1.23

EC 3.1.1.79

XP_054176997.1

EC 3.1.1.23

EC 3.1.1.79

XP_054176998.1

EC 3.1.1.23

EC 3.1.1.79

XP_054176999.1

EC 3.1.1.23

EC 3.1.1.79

XP_054177000.1

EC 3.1.1.23

EC 3.1.1.79

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034246.1 RefSeqGene

Range

5039..30913

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001416100.1 → NP_001403029.1 hormone-sensitive lipase isoform 1

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416101.1 → NP_001403030.1 hormone-sensitive lipase isoform 2

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416102.1 → NP_001403031.1 hormone-sensitive lipase isoform 3

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416103.1 → NP_001403032.1 hormone-sensitive lipase isoform 4

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416104.1 → NP_001403033.1 hormone-sensitive lipase isoform 4

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416105.1 → NP_001403034.1 hormone-sensitive lipase isoform 5

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416106.1 → NP_001403035.1 hormone-sensitive lipase isoform 6

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416107.1 → NP_001403036.1 hormone-sensitive lipase isoform 7

Status: REVIEWED

Source sequence(s)

AC011497
NM_001416108.1 → NP_001403037.1 hormone-sensitive lipase isoform 8

Status: REVIEWED

Source sequence(s)

AC011497
NM_005357.4 → NP_005348.2 hormone-sensitive lipase isoform 11

See identical proteins and their annotated locations for NP_005348.2

Status: REVIEWED

Source sequence(s)

AK292482, BC070041

Consensus CDS

CCDS12607.1

UniProtKB/Swiss-Prot

Q05469, Q3LRT2, Q6NSL7

UniProtKB/TrEMBL

A8K8W7

Related

ENSP00000244289.3, ENST00000244289.9

Conserved Domains (4) summary

COG0657
Location:637 → 790

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam06350
Location:307 → 615

HSL_N; Hormone-sensitive lipase (HSL) N-terminus

pfam16228
Location:30 → 134

DUF4887; Domain of unknown function (DUF4887)

cl21494
Location:647 → 795

Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

42401514..42427388 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258937.4 → XP_005258994.1 hormone-sensitive lipase isoform X1

UniProtKB/TrEMBL

A8K8W7

Conserved Domains (4) summary

COG0657
Location:637 → 975

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam06350
Location:307 → 615

HSL_N; Hormone-sensitive lipase (HSL) N-terminus

pfam16228
Location:30 → 134

DUF4887; Domain of unknown function (DUF4887)

cl21494
Location:647 → 952

Abhydrolase; alpha/beta hydrolases
XM_006723218.4 → XP_006723281.1 hormone-sensitive lipase isoform X3

See identical proteins and their annotated locations for XP_006723281.1

UniProtKB/Swiss-Prot

Q05469

Conserved Domains (3) summary

COG0657
Location:336 → 489

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam06350
Location:6 → 314

HSL_N; Hormone-sensitive lipase (HSL) N-terminus

cl21494
Location:346 → 494

Abhydrolase; alpha/beta hydrolases
XM_047438836.1 → XP_047294792.1 hormone-sensitive lipase isoform X4
XM_005258939.4 → XP_005258996.2 hormone-sensitive lipase isoform X2

Conserved Domains (3) summary

COG0657
Location:399 → 552

Aes; Acetyl esterase/lipase [Lipid transport and metabolism]

pfam06350
Location:69 → 377

HSL_N; Hormone-sensitive lipase (HSL) N-terminus

cl21494
Location:409 → 557

Abhydrolase; alpha/beta hydrolases
XM_047438835.1 → XP_047294791.1 hormone-sensitive lipase isoform X3