Apolipoprotein C-II

APOC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1SOH, 1BY6, 1I5J, 1O8T
Identifiers
Aliases	APOC2 , APO-CII, APOC-II, apolipoprotein C2
External IDs	OMIM: 608083; MGI: 88054; HomoloGene: 47928; GeneCards: APOC2; OMA:APOC2 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.32 Start 44,946,035 bp [1] End 44,949,565 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 A3|7 9.94 cM Start 19,405,504 bp [2] End 19,411,866 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver substantia nigra C1 segment duodenum caudate nucleus putamen amygdala testicle nucleus accumbens hypothalamus Top expressed in yolk sac duodenum liver jejunum ileum spermatocyte colon granulocyte pulmonary alveolus wall of pulmonary alveolus More reference expression data BioGPS n/a
Gene ontology Molecular function lipase inhibitor activity phospholipase binding protein homodimerization activity lipoprotein lipase activator activity phospholipase activator activity enzyme activator activity lipid binding Cellular component chylomicron very-low-density lipoprotein particle spherical high-density lipoprotein particle extracellular region early endosome low-density lipoprotein particle high-density lipoprotein particle intermediate-density lipoprotein particle extracellular space Biological process high-density lipoprotein particle clearance lipid transport positive regulation of triglyceride catabolic process chylomicron remnant clearance lipid metabolism phospholipid efflux positive regulation of lipoprotein lipase activity positive regulation of fatty acid biosynthetic process negative regulation of very-low-density lipoprotein particle clearance retinoid metabolic process negative regulation of receptor-mediated endocytosis lipid catabolic process positive regulation of phospholipase activity positive regulation of phospholipid catabolic process cholesterol efflux very-low-density lipoprotein particle remodeling negative regulation of cholesterol transport cholesterol homeostasis positive regulation of very-low-density lipoprotein particle remodeling triglyceride-rich lipoprotein particle remodeling triglyceride homeostasis negative regulation of lipid metabolic process reverse cholesterol transport negative regulation of catalytic activity lipoprotein transport chylomicron remodeling high-density lipoprotein particle remodeling chylomicron assembly positive regulation of catalytic activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 344 11813 Ensembl ENSG00000234906 ENSMUSG00000002992 UniProt P02655 Q05020 RefSeq (mRNA) NM_000483 NM_001277944 NM_001309795 RefSeq (protein) NP_000474 NP_000474.2 NP_001296728 NP_001264873 NP_001296724 Location (UCSC) Chr 19: 44.95 – 44.95 Mb Chr 7: 19.41 – 19.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Apo-CII
nmr structure of human apolipoprotein c-ii in the presence of sds
Identifiers
Symbol	Apo-CII
Pfam	PF05355
InterPro	IPR008019
SCOP2	1by6 / SCOPe / SUPFAM
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Apolipoprotein C-II (Apo-CII, or Apoc-II), or apolipoprotein C2 is a protein that in humans is encoded by the APOC2 gene.

The protein encoded by this gene is secreted in plasma, where it is a component of very low density lipoproteins and chylomicrons. This protein activates the enzyme lipoprotein lipase in capillaries, ^[5] which hydrolyzes triglycerides and thus provides free fatty acids and glycerols for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by xanthomas, pancreatitis, and hepatosplenomegaly, but no increased risk for atherosclerosis. Lab tests will show elevated blood levels of triglycerides, cholesterol, and chylomicrons ^[6]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. ^{[§ 1]}

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|alt=Statin pathway edit]]

Statin pathway edit

1. The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

• Apolipoprotein C

References

1. GRCh38: Ensembl release 89: ENSG00000234906 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000002992 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kim SY, Park SM, Lee ST (2006). "Apolipoprotein C-II is a novel substrate for matrix metalloproteinases". Biochem. Biophys. Res. Commun. 339 (1): 47–54. Bibcode:2006BBRC..339...47K. doi:10.1016/j.bbrc.2005.10.182. PMID   16314153.
6. "Entrez Gene: APOC2 apolipoprotein C-II".

• Jackson RL, Baker HN, Gilliam EB, Gotto AM (1977). "Primary structure of very low density apolipoprotein C-II of human plasma". Proc. Natl. Acad. Sci. U.S.A. 74 (5): 1942–5. Bibcode:1977PNAS...74.1942J. doi: 10.1073/pnas.74.5.1942 . PMC   431048 . PMID   194244.
• Lycksell PO, Ohman A, Bengtsson-Olivecrona G, et al. (1992). "Sequence specific 1H-NMR assignments and secondary structure of a carboxy-terminal functional fragment of apolipoprotein CII". Eur. J. Biochem. 205 (1): 223–31. doi: 10.1111/j.1432-1033.1992.tb16772.x . PMID   1555583.
• Hegele RA, Connelly PW, Maguire GF, et al. (1992). "An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia". Dis. Markers. 9 (2): 73–80. PMID   1782747.
• Crecchio C, Capurso A, Pepe G (1990). "Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari)". Biochem. Biophys. Res. Commun. 168 (3): 1118–27. Bibcode:1990BBRC..168.1118C. doi:10.1016/0006-291X(90)91145-I. PMID   1971748.
• Bengtsson-Olivecrona G, Sletten K (1990). "Primary structure of the bovine analogues to human apolipoproteins CII and CIII. Studies on isoforms and evidence for proteolytic processing". Eur. J. Biochem. 192 (2): 515–21. doi: 10.1111/j.1432-1033.1990.tb19255.x . PMID   2209608.
• Wei CF, Tsao YK, Robberson DL, et al. (1986). "The structure of the human apolipoprotein C-II gene. Electron microscopic analysis of RNA:DNA hybrids, complete nucleotide sequence, and identification of 5' homologous sequences among apolipoprotein genes". J. Biol. Chem. 260 (28): 15211–21. doi: 10.1016/S0021-9258(18)95724-8 . PMID   2415514.
• Fojo SS, Lohse P, Parrott C, et al. (1989). "A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency". J. Clin. Invest. 84 (4): 1215–9. doi:10.1172/JCI114287. PMC   329780 . PMID   2477392.
• Jackson CL, Bruns GA, Breslow JL (1986). "Isolation of cDNA and genomic clones for apolipoprotein C-II" . In Segrest JP, Albers JA (eds.). Plasma Lipoproteins Part A: Preparation, Structure, and Molecular Biology. Methods in Enzymology. Vol. 128. Elsevier. pp.  788–800. doi:10.1016/0076-6879(86)28106-9. ISBN   9780121820282. PMID   3014272.
• Fojo SS, Law SW, Brewer HB (1987). "The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization". FEBS Lett. 213 (1): 221–6. Bibcode:1987FEBSL.213..221F. doi: 10.1016/0014-5793(87)81495-3 . PMID   3030808. S2CID   42223577.
• Fojo SS, Stalenhoef AF, Marr K, et al. (1989). "A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II". J. Biol. Chem. 263 (34): 17913–6. doi: 10.1016/S0021-9258(19)81302-9 . PMID   3192518.
• Fojo SS, Beisiegel U, Beil U, et al. (1988). "Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency". J. Clin. Invest. 82 (5): 1489–94. doi:10.1172/JCI113756. PMC   442713 . PMID   3263393.
• Connelly PW, Maguire GF, Hofmann T, Little JA (1987). "Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein". Proc. Natl. Acad. Sci. U.S.A. 84 (1): 270–3. Bibcode:1987PNAS...84..270C. doi: 10.1073/pnas.84.1.270 . PMC   304185 . PMID   3467353.
• Fairwell T, Hospattankar AV, Brewer HB, Khan SA (1987). "Human plasma apolipoprotein C-II: total solid-phase synthesis and chemical and biological characterization". Proc. Natl. Acad. Sci. U.S.A. 84 (14): 4796–800. Bibcode:1987PNAS...84.4796F. doi: 10.1073/pnas.84.14.4796 . PMC   305192 . PMID   3474626.
• Fojo SS, Taam L, Fairwell T, et al. (1986). "Human preproapolipoprotein C-II. Analysis of major plasma isoforms". J. Biol. Chem. 261 (21): 9591–4. doi: 10.1016/S0021-9258(18)67554-4 . PMID   3525527.
• Das HK, Jackson CL, Miller DA, et al. (1987). "The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron". J. Biol. Chem. 262 (10): 4787–93. doi: 10.1016/S0021-9258(18)61264-5 . PMID   3558370.
• Connelly PW, Maguire GF, Little JA (1988). "Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease". J. Clin. Invest. 80 (6): 1597–606. doi:10.1172/JCI113246. PMC   442428 . PMID   3680515.
• Baggio G, Manzato E, Gabelli C, et al. (1986). "Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients". J. Clin. Invest. 77 (2): 520–7. doi:10.1172/JCI112332. PMC   423374 . PMID   3944267.
• Menzel HJ, Kane JP, Malloy MJ, Havel RJ (1986). "A variant primary structure of apolipoprotein C-II in individuals of African descent". J. Clin. Invest. 77 (2): 595–601. doi:10.1172/JCI112342. PMC   423392 . PMID   3944271.
• Sharpe CR, Sidoli A, Shelley CS, et al. (1984). "Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance". Nucleic Acids Res. 12 (9): 3917–32. doi:10.1093/nar/12.9.3917. PMC   318799 . PMID   6328445.
• Jackson CL, Bruns GA, Breslow JL (1984). "Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII". Proc. Natl. Acad. Sci. U.S.A. 81 (10): 2945–9. Bibcode:1984PNAS...81.2945J. doi: 10.1073/pnas.81.10.2945 . PMC   345197 . PMID   6328478.

External links

• Human APOC2 genome location and APOC2 gene details page in the UCSC Genome Browser .