Hepatic lipase

LIPC
Identifiers
AliasesLIPC, HDLCQ12, HL, HTGL, LIPH, lipase C, hepatic type
External IDsOMIM: 151670 MGI: 96216 HomoloGene: 199 GeneCards: LIPC
Gene location (Human)
Chr.Chromosome 15 (human)[1]
BandNo data availableStart58,410,569 bp[1]
End58,569,843 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

3990

15450

Ensembl

ENSG00000166035

ENSMUSG00000032207

UniProt

P11150

P27656

RefSeq (mRNA)

NM_000236

NM_008280
NM_001324472
NM_001324473

RefSeq (protein)

NP_000227

NP_001311401
NP_001311402
NP_032306

Location (UCSC)Chr 15: 58.41 – 58.57 MbChr 9: 70.8 – 70.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for "lipase, hepatic"), is a form of lipase, catalyzing the hydrolysis of fats. It is expressed in the liver and adrenal glands.[5]

One of the principal functions of hepatic lipase is to convert intermediate-density lipoprotein (IDL) to low-density lipoprotein (LDL).

Function

LIPC encodes hepatic triglyceride lipase (HTGL), which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake.[6]

Clinical significance

Hepatic lipase deficiency is a rare, autosomal recessive disorder that results in elevated high density lipoprotein (HDL) cholesterol due to a mutation in the hepatic lipase gene. Clinical features are not well understood and there are no characteristic xanthomas. There is an association with a delay in atherosclerosis in an animal model.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000166035 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032207 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Dichek HL, Agrawal N, El Andaloussi N, Qian K (May 2006). "Attenuated corticosterone response to chronic ACTH stimulation in hepatic lipase-deficient mice: evidence for a role for hepatic lipase in adrenal physiology". American Journal of Physiology. Endocrinology and Metabolism. 290 (5): E908–15. PMID 16368783. doi:10.1152/ajpendo.00442.2005.
  6. ↑ "Entrez Gene: LIPC lipase, hepatic".
  7. ↑ Karackattu SL, Trigatti B, Krieger M (Mar 2006). "Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice". Arteriosclerosis, Thrombosis, and Vascular Biology. 26 (3): 548–54. PMID 16397139. doi:10.1161/01.ATV.0000202662.63876.02.

Further reading

  • Santamarina-Fojo S, Haudenschild C, Amar M (Jun 1998). "The role of hepatic lipase in lipoprotein metabolism and atherosclerosis". Current Opinion in Lipidology. 9 (3): 211–9. PMID 9645503. doi:10.1097/00041433-199806000-00005. 
  • Jansen H, Verhoeven AJ, Sijbrands EJ (Sep 2002). "Hepatic lipase: a pro- or anti-atherogenic protein?". Journal of Lipid Research. 43 (9): 1352–62. PMID 12235167. doi:10.1194/jlr.R200008-JLR200. 
  • Zambon A, Deeb SS, Pauletto P, Crepaldi G, Brunzell JD (Apr 2003). "Hepatic lipase: a marker for cardiovascular disease risk and response to therapy". Current Opinion in Lipidology. 14 (2): 179–89. PMID 12642787. doi:10.1097/01.mol.0000064055.08840.77. 
  • Hegele RA, Tu L, Connelly PW (1993). "Human hepatic lipase mutations and polymorphisms". Human Mutation. 1 (4): 320–4. PMID 1301939. doi:10.1002/humu.1380010410. 
  • Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD, Little JA, Connelly PW (Mar 1991). "A hepatic lipase gene mutation associated with heritable lipolytic deficiency". The Journal of Clinical Endocrinology and Metabolism. 72 (3): 730–2. PMID 1671786. doi:10.1210/jcem-72-3-730. 
  • Hegele RA, Little JA, Connelly PW (Aug 1991). "Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency". Biochemical and Biophysical Research Communications. 179 (1): 78–84. PMID 1883393. doi:10.1016/0006-291X(91)91336-B. 
  • Ameis D, Stahnke G, Kobayashi J, McLean J, Lee G, Büscher M, Schotz MC, Will H (Apr 1990). "Isolation and characterization of the human hepatic lipase gene". The Journal of Biological Chemistry. 265 (12): 6552–5. PMID 2324091. 
  • Datta S, Luo CC, Li WH, VanTuinen P, Ledbetter DH, Brown MA, Chen SH, Liu SW, Chan L (Jan 1988). "Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase". The Journal of Biological Chemistry. 263 (3): 1107–10. PMID 2447084. 
  • Cai SJ, Wong DM, Chen SH, Chan L (Nov 1989). "Structure of the human hepatic triglyceride lipase gene". Biochemistry. 28 (23): 8966–71. PMID 2605236. doi:10.1021/bi00449a002. 
  • Stahnke G, Sprengel R, Augustin J, Will H (1988). "Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line". Differentiation; Research in Biological Diversity. 35 (1): 45–52. PMID 2828141. doi:10.1111/j.1432-0436.1987.tb00150.x. 
  • Martin GA, Busch SJ, Meredith GD, Cardin AD, Blankenship DT, Mao SJ, Rechtin AE, Woods CW, Racke MM, Schafer MP (Aug 1988). "Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase". The Journal of Biological Chemistry. 263 (22): 10907–14. PMID 2839510. 
  • Sparkes RS, Zollman S, Klisak I, Kirchgessner TG, Komaromy MC, Mohandas T, Schotz MC, Lusis AJ (Oct 1987). "Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21". Genomics. 1 (2): 138–44. PMID 3692485. doi:10.1016/0888-7543(87)90005-X. 
  • Kounnas MZ, Chappell DA, Wong H, Argraves WS, Strickland DK (Apr 1995). "The cellular internalization and degradation of hepatic lipase is mediated by low density lipoprotein receptor-related protein and requires cell surface proteoglycans". The Journal of Biological Chemistry. 270 (16): 9307–12. PMID 7721852. doi:10.1074/jbc.270.16.9543. 
  • Mori A, Takagi A, Ikeda Y, Ashida Y, Yamamoto A (Aug 1996). "An AvaII polymorphism in exon 5 of the human hepatic triglyceride lipase gene". Molecular and Cellular Probes. 10 (4): 309–11. PMID 8865179. doi:10.1006/mcpr.1996.0040. 
  • Takagi A, Ikeda Y, Mori A, Ashida Y, Yamamoto A (Aug 1996). "Identification of a BstNI polymorphism in exon 9 of the human hepatic triglyceride lipase gene". Molecular and Cellular Probes. 10 (4): 313–4. PMID 8865180. doi:10.1006/mcpr.1996.0041. 
  • Choi SY, Goldberg IJ, Curtiss LK, Cooper AD (Aug 1998). "Interaction between ApoB and hepatic lipase mediates the uptake of ApoB-containing lipoproteins". The Journal of Biological Chemistry. 273 (32): 20456–62. PMID 9685400. doi:10.1074/jbc.273.32.20456. 
  • Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES (Jul 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nature Genetics. 22 (3): 231–8. PMID 10391209. doi:10.1038/10290. 
  • Tiebel O, Gehrisch S, Pietzsch J, Gromeier S, Jaross W (2000). "18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online". Human Mutation. 12 (3): 216. PMID 10660332. 
  • Yamakawa-Kobayashi K, Somekawa Y, Fujimura M, Tomura S, Arinami T, Hamaguchi H (May 2002). "Relation of the -514C/T polymorphism in the hepatic lipase gene to serum HDL and LDL cholesterol levels in postmenopausal women under hormone replacement therapy". Atherosclerosis. 162 (1): 17–21. PMID 11947893. doi:10.1016/S0021-9150(01)00675-X. 
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.