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Gene Review

APOC1  -  apolipoprotein C-I

Homo sapiens

Synonyms: Apo-CI, ApoC-I, Apolipoprotein C-I, Apolipoprotein C1
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Disease relevance of APOC1


Psychiatry related information on APOC1

  • Since a deletion/insertion polymorphism in the promoter region of the apolipoprotein C-I (APOC1) gene has been reported to be associated with late-onset Alzheimer's disease (LOAD), we examined the hypothesis in a Korean population with 120 LOAD cases and 132 age-matched controls [6].
  • Previous research has shown that polymorphisms of the apolipoproteins E ( APOE) and APOC1 represent genetic risk factors for dementia and for cognitive impairment in the elderly [7].

High impact information on APOC1


Chemical compound and disease context of APOC1


Biological context of APOC1


Anatomical context of APOC1


Associations of APOC1 with chemical compounds


Regulatory relationships of APOC1


Other interactions of APOC1

  • When taken together with previous studies, our results suggest the following physical gene map: pter-LDLR-C3-p13.2-PEPD-centromere-(APOE, APOC1, APOC2, GPI)-qter [1].
  • We conclude that, apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease [20].
  • APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals [21].
  • Two of the markers, APOC1 and APOC2, are tightly linked to DM [22].
  • The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population [23].

Analytical, diagnostic and therapeutic context of APOC1

  • METHODS: This method included newly designed primers and only one round of PCR amplification which yields one short and specific APOC1 fragment followed by HpaI digestion [24].
  • ApoC-I and apoE were measured by ELISA in total plasma and in very low-density lipoproteins (VLDL) separated by ultracentrifugation (d<1.006 g/ml), and then by difference for the non-VLDL fraction (d>1.006 g/ml), in a subset of families selected for their diverse apoE genotypes [25].
  • Labeling of apolipoprotein C-I by the Bolton and Hunter reagent allowed a study of the kinetics of this peptide in normolipidemic human volunteers [26].
  • In order to gain new insights into the function of the individual apoCs in lipoprotein metabolism, several laboratories have created mouse models lacking or overexpressing the respective APOC genes through the technologies of gene targeting and transgenesis [27].
  • Crystallization and preliminary X-ray analysis of human plasma apolipoprotein C-I [28].


  1. Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI. Lusis, A.J., Heinzmann, C., Sparkes, R.S., Scott, J., Knott, T.J., Geller, R., Sparkes, M.C., Mohandas, T. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  2. Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene. Smit, M., van der Kooij-Meijs, E., Woudt, L.P., Havekes, L.M., Frants, R.R. Biochem. Biophys. Res. Commun. (1988) [Pubmed]
  3. Overexpression of APOC1 in obob mice leads to hepatic steatosis and severe hepatic insulin resistance. Muurling, M., van den Hoek, A.M., Mensink, R.P., Pijl, H., Romijn, J.A., Havekes, L.M., Voshol, P.J. J. Lipid Res. (2004) [Pubmed]
  4. Severe hypertriglyceridemia in human APOC1 transgenic mice is caused by apoC-I-induced inhibition of LPL. Berbée, J.F., van der Hoogt, C.C., Sundararaman, D., Havekes, L.M., Rensen, P.C. J. Lipid Res. (2005) [Pubmed]
  5. Search for new biomarkers of gastric cancer through serial analysis of gene expression and its clinical implications. Yasui, W., Oue, N., Ito, R., Kuraoka, K., Nakayama, H. Cancer Sci. (2004) [Pubmed]
  6. Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease. Ki, C.S., Na, D.L., Kim, D.K., Kim, H.J., Kim, J.W. Neurosci. Lett. (2002) [Pubmed]
  7. Apolipoproteins E and C1 and brain morphology in memory impaired elders. Serra-Grabulosa, J.M., Salgado-Pineda, P., Junqué, C., Solé-Padullés, C., Moral, P., López-Alomar, A., López, T., López-Guillén, A., Bargalló, N., Mercader, J.M., Clemente, I.C., Bartrés-Faz, D. Neurogenetics (2003) [Pubmed]
  8. Hyperlipidemia and cutaneous abnormalities in transgenic mice overexpressing human apolipoprotein C1. Jong, M.C., Gijbels, M.J., Dahlmans, V.E., Gorp, P.J., Koopman, S.J., Ponec, M., Hofker, M.H., Havekes, L.M. J. Clin. Invest. (1998) [Pubmed]
  9. Hyperlipidaemia is associated with increased insulin-mediated glucose metabolism, reduced fatty acid metabolism and normal blood pressure in transgenic mice overexpressing human apolipoprotein C1. Koopmans, S.J., Jong, M.C., Que, I., Dahlmans, V.E., Pijl, H., Radder, J.K., Frölich, M., Havekes, L.M. Diabetologia (2001) [Pubmed]
  10. Apolipoprotein CI stimulates the response to lipopolysaccharide and reduces mortality in gram-negative sepsis. Berb??e, J.F., van der Hoogt, C.C., Kleemann, R., Schippers, E.F., Kitchens, R.L., van Dissel, J.T., Bakker-Woudenberg, I.A., Havekes, L.M., Rensen, P.C. FASEB J. (2006) [Pubmed]
  11. Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease. Scacchi, R., Gambina, G., Ruggeri, M., Martini, M.C., Ferrari, G., Silvestri, M., Schiavon, R., Corbo, R.M. Neurosci. Lett. (1999) [Pubmed]
  12. In the absence of the low density lipoprotein receptor, human apolipoprotein C1 overexpression in transgenic mice inhibits the hepatic uptake of very low density lipoproteins via a receptor-associated protein-sensitive pathway. Jong, M.C., Dahlmans, V.E., van Gorp, P.J., van Dijk, K.W., Breuer, M.L., Hofker, M.H., Havekes, L.M. J. Clin. Invest. (1996) [Pubmed]
  13. MRI and genetic correlates of cognitive function in elders with memory impairment. Bartrés-Faz, D., Junqué, C., Clemente, I.C., Serra-Grabulosa, J.M., Guardia, J., López-Alomar, A., Sánchez-Aldeguer, J., Mercader, J.M., Bargalló, N., Olondo, M., Moral, P. Neurobiol. Aging (2001) [Pubmed]
  14. Protection from obesity and insulin resistance in mice overexpressing human apolipoprotein C1. Jong, M.C., Voshol, P.J., Muurling, M., Dahlmans, V.E., Romijn, J.A., Pijl, H., Havekes, L.M. Diabetes (2001) [Pubmed]
  15. Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment. Bartrés-Faz, D., Junqué, C., Clemente, I.C., López-Alomar, A., Bargalló, N., Mercader, J.M., Moral, P. Neurosci. Lett. (2002) [Pubmed]
  16. Effect of atorvastatin on ApoE and ApoC-I synthesis and secretion by THP-1 macrophages. Castilho, L.N., Chamberland, A., Boulet, L., Davignon, J., Cohn, J.S., Bernier, L. J. Cardiovasc. Pharmacol. (2003) [Pubmed]
  17. Conformation of two peptides corresponding to human apolipoprotein C-I residues 7-24 and 35-53 in the presence of sodium dodecyl sulfate by CD and NMR spectroscopy. Rozek, A., Buchko, G.W., Cushley, R.J. Biochemistry (1995) [Pubmed]
  18. Apolipoprotein CI overexpression is not a relevant strategy to block cholesteryl ester transfer protein (CETP) activity in CETP transgenic mice. Gautier, T., Masson, D., Jong, M.C., Pais de Barros, J.P., Duverneuil, L., Le Guern, N., Deckert, V., Dumont, L., Bataille, A., Zak, Z., Jiang, X.C., Havekes, L.M., Lagrost, L. Biochem. J. (2005) [Pubmed]
  19. Effect of the human plasma apolipoproteins and phosphatidylcholine acyl donor on the activity of lecithin: cholesterol acyltransferase. Soutar, A.K., Garner, C.W., Baker, H.N., Sparrow, J.T., Jackson, R.L., Gotto, A.M., Smith, L.C. Biochemistry (1975) [Pubmed]
  20. Potential genetic markers of sporadic Alzheimer's dementia. Retz, W., Thome, J., Durany, N., Harsányi, A., Retz-Junginger, P., Kornhuber, J., Riederer, P., Rösler, M. Psychiatr. Genet. (2001) [Pubmed]
  21. APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals. Tycko, B., Lee, J.H., Ciappa, A., Saxena, A., Li, C.M., Feng, L., Arriaga, A., Stern, Y., Lantigua, R., Shachter, N., Mayeux, R. Arch. Neurol. (2004) [Pubmed]
  22. Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Koch, M., Harley, H., Sarfarazi, M., Bender, K., Wienker, T., Zoll, B., Harper, P.S. Hum. Genet. (1989) [Pubmed]
  23. Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPA gene and APOE-C1-C2 gene cluster. Harich, N., Esteban, E., López-Alomar, A., Chafik, A., Moral, P. Clin. Genet. (2002) [Pubmed]
  24. An improved RSP method to detect HpaI polymorphism in the apolipoprotein C-1 gene promoter. Gao, L., Gabriel, C., Lavoie, T., Ye, S.Q. BMC Med. Genet. (2002) [Pubmed]
  25. Plasma concentration and lipoprotein distribution of ApoC-I is dependent on ApoE genotype rather than the Hpa I ApoC-I promoter polymorphism. Cohn, J.S., Tremblay, M., Boulet, L., Jacques, H., Davignon, J., Roy, M., Bernier, L. Atherosclerosis (2003) [Pubmed]
  26. Metabolism of apolipoprotein C-I in normolipoproteinemic human subjects. Malmendier, C.L., Lontie, J.F., Grutman, G.A., Delcroix, C. Atherosclerosis (1986) [Pubmed]
  27. Insights into apolipoprotein C metabolism from transgenic and gene-targeted mice. Jong, M.C., Havekes, L.M. International journal of tissue reactions. (2000) [Pubmed]
  28. Crystallization and preliminary X-ray analysis of human plasma apolipoprotein C-I. Weisgraber, K.H., Newhouse, Y.M., McPherson, A. J. Mol. Biol. (1994) [Pubmed]
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