CP - ceruloplasmin Gene
Also Known as CP-2; AB073614
Species: Homo sapiens
About CP
This gene has 15 transcripts (splice variants), 202 orthologues, 35 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 413.3) and urinary bladder (RPKM 15.0).
Summary
The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the Other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
CP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000096.4 | NP_000087.2 | ceruloplasmin precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ferroxidase activity |
IDA
IDA: Inferred from direct assay
|
14623105 | GOA |
| enables ferroxidase activity |
IMP
IMP: Inferred from mutant phenotype
|
16150804 | GOA |
| enables glutathione peroxidase activity |
IDA
IDA: Inferred from direct assay
|
10481051 | GOA |
| enables oxidoreductase activity, acting on metal ions, oxygen as acceptor |
IDA
IDA: Inferred from direct assay
|
14623105 | GOA |
| enables phospholipid-hydroperoxide glutathione peroxidase activity |
IDA
IDA: Inferred from direct assay
|
10481051 | GOA |
| enables protein-folding chaperone binding |
IPI
IPI: Inferred from physical interaction
|
19996109 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in intracellular copper ion homeostasis |
IDA
IDA: Inferred from direct assay
|
14623105 | GOA |
| involved in intracellular iron ion homeostasis |
IDA
IDA: Inferred from direct assay
|
14623105 | GOA |
| involved in intracellular iron ion homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
16150804 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
16150804 | GOA |
CP Protein Structure
Cu-oxidase_3: Multicopper oxidase (92 - 203)
Cu-oxidase: Multicopper oxidase (223 - 357)
Cu-oxidase_3: Multicopper oxidase (807 - 899)
Cu-oxidase_2: Multicopper oxidase (953 - 1057)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1065 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ceruloplasmin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Aceruloplasminemia |
|
|
| Hermansky-Pudlak Syndrome 3 |
|
|
| Hermansky-Pudlak Syndrome 1 |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Hemosiderosis |
|
|
| Wilson Disease |
|
|
| Menkes Disease |
|
|
| Retinal Degeneration |
|
|
| Pneumoconiosis |
|
|
| Pili Torti, Early-Onset |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Neuroacanthocytosis |
|
|
| Hemochromatosis, Type 1 |
|
|
| Liver Disease |
|
|
| Deficiency Anemia |
|
|
| Hypochromic Microcytic Anemia |
|
|
| Syphilis |
|
|
| Boutonneuse Fever |
|
|
| Nutmeg Liver |
|
|
| Adult Respiratory Distress Syndrome |
|
|
| Athetosis |
|
|
| Protein-Energy Malnutrition |
|
|
| Metal Metabolism Disorder |
|
|
| Iron Metabolism Disease |
|
|
| Fascioliasis |
|
|
| Pancytopenia |
|
|
| Diabetes Mellitus |
|
|
| Iron Deficiency Anemia |
|
|
| Occipital Horn Syndrome |
|
|
| Anthracosilicosis |
|
|
| Mastitis |
|
|
| Cholecystitis |
|
|
| Bladder Diverticulum |
|
|
| Porphyria Cutanea Tarda |
|
|
| Pulmonary Tuberculosis |
|
|
| Cholestasis |
|
|
| Porphyria |
|
|
| Nutritional Deficiency Disease |
|
|
| Cerebellar Disease |
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
|
| Neutropenia |
|
|
| Glycogen Storage Disease |
|
|
| Periapical Granuloma |
|
|
| Esophageal Varix |
|
|
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
|
| Siderosis |
|
|
| Movement Disease |
|
|
| Gastroenteritis |
|
|
| Thrombophilia Due To Hrg Deficiency |
|
|
| Copper Deficiency Myelopathy |
|
|
| Neurodegeneration With Brain Iron Accumulation 1 |
|
|
| Drug-Induced Hepatitis |
|
|
| Chorea Gravidarum |
|
|
| Neurodegeneration With Brain Iron Accumulation 2a |
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
|
| Choreatic Disease |
|
|
| Heart Disease |
|
|
| Hematuria, Benign Familial |
|
|
| Hemolytic Anemia |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Primary Biliary Cholangitis |
|
|
| Hydrops Of Gallbladder |
|
|
| Cataract |
|
|
| Adermatoglyphia |
|
|
| Scoliosis |
|
|
| Hepatic Vascular Disease |
|
|
| Plasma Protein Metabolism Disease |
|
|
| Complement Component 7 Deficiency |
|
|
| Budd-Chiari Syndrome |
|
|
| Dystonia 25 |
|
|
| Torsion Dystonia 2 |
|
|
| Neural Tube Defects |
|
|
| Malaria |
|
|
| Colorectal Cancer |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Cardiovascular System Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Behcet Syndrome |
|
|
| Huntington Disease |
|
|
| Alcohol Dependence |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CP | VGNC | VGNC:71454 |
| Bos taurus | CP | VGNC | VGNC:27641 |
| Rattus norvegicus | CP | RGD | RGD:2387 |
| Canis familiaris | CP | VGNC | VGNC:39542 |
| Mus musculus | CP | MGD | MGI:88476 |
| Others | CP | NCBI |