ID:CERU_HUMAN DESCRIPTION: RecName: Full=Ceruloplasmin; EC=1.16.3.1; AltName: Full=Ferroxidase; Flags: Precursor; FUNCTION: Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity). CATALYTIC ACTIVITY: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O. COFACTOR: Binds 6 copper ions per monomer. SUBCELLULAR LOCATION: Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments (By similarity). TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. DISEASE: Defects in CP are the cause of aceruloplasminemia (ACERULOP) [MIM:604290]. It is an autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. DISEASE: Note=Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2. SIMILARITY: Belongs to the multicopper oxidase family. SIMILARITY: Contains 3 F5/8 type A domains. SIMILARITY: Contains 6 plastocyanin-like domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CP"; WEB RESOURCE: Name=Wikipedia; Note=Ceruloplasmin entry; URL="http://en.wikipedia.org/wiki/Ceruloplasmin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00450
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006825 copper ion transport GO:0006879 cellular iron ion homeostasis GO:0043687 post-translational protein modification GO:0044267 cellular protein metabolic process GO:0055114 oxidation-reduction process
AK299272 - Homo sapiens cDNA FLJ58075 complete cds, highly similar to Ceruloplasmin precursor (EC 1.16.3.1). BX647327 - Homo sapiens mRNA; cDNA DKFZp779H0615 (from clone DKFZp779H0615). BC146801 - Homo sapiens cDNA clone IMAGE:8860313. BC039239 - Homo sapiens, Similar to ceruloplasmin (ferroxidase), clone IMAGE:4723479, mRNA. BC142714 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone MGC:165060 IMAGE:40148840), complete cds. BC146663 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone MGC:164885 IMAGE:40148048), complete cds. M13536 - Human ceruloplasmin mRNA. M13699 - Human ceruloplasmin (ferroxidase) mRNA, complete cds. AK291219 - Homo sapiens cDNA FLJ76826 complete cds, highly similar to Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. AK095290 - Homo sapiens cDNA FLJ37971 fis, clone CTONG2009958, highly similar to CERULOPLASMIN PRECURSOR (EC 1.16.3.1). BC094709 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone IMAGE:30717868). BC061702 - Homo sapiens cDNA clone IMAGE:4716549, containing frame-shift errors. JD355944 - Sequence 336968 from Patent EP1572962. X69706 - H.sapiens hepatic mRNA for caeruloplasmin. AB073614 - Homo sapiens primary hepatoblastoma cDNA, clone:HMFN1050, full insert sequence. JD052028 - Sequence 33052 from Patent EP1572962. X04138 - Human mRNA fragment for ceruloplasmin (aa 900-933). X04137 - Human mRNA fragment for ceruloplasmin (aa 765-810). AK309279 - Homo sapiens cDNA, FLJ99320. X04136 - Human mRNA fragment for ceruloplasmin (aa 530-580). BC070304 - Homo sapiens ceruloplasmin (ferroxidase), mRNA (cDNA clone IMAGE:4070606), partial cds. X04135 - Human mRNA fragment for ceruloplasmin (aa -19 to 21).
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P00450 (Reactome details) participates in the following event(s):
R-HSA-904830 SLC40A1:CP:6Cu2+ transports Fe2+ from cytosol to extracellular region R-HSA-917891 SLC40A1:CP:6Cu2+ oxidises Fe2+ to Fe3+ R-HSA-8952289 FAM20C phosphorylates FAM20C substrates R-HSA-425410 Metal ion SLC transporters R-HSA-917937 Iron uptake and transport R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8957275 Post-translational protein phosphorylation R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-382551 Transport of small molecules R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification R-HSA-425407 SLC-mediated transmembrane transport
GeneReviews article(s) related to gene CP: acp (Aceruloplasminemia) dystonia-ov (Hereditary Dystonia Overview) nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview)
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.