AlphaFold predicted structure
CP · P00450
Mean pLDDT
93.7/ 100
Very high
1,065 residues
Confidence breakdown
- Very high(≥ 90)90%
- Confident(70–90)5%
- Low(50–70)3%
- Very low(< 50)2%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CP
Chr 3q24-q25.1ceruloplasmin
- Aliases:
- AB073614
- MANE:
- ENST00000264613.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalEarly onset dystonia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIron metabolism disorders - NOT common HFE mutations
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
aceruloplasminemia
0.83cerebellar ataxia
0.57Hermansky-Pudlak syndrome 3
0.56Hermansky-Pudlak syndrome
0.52neurodegeneration with brain iron accumulation
0.51Dystonia
0.46infantile epileptic encephalopathy
0.37hereditary disease
0.34alcohol drinking
0.25ovarian dysfunction
0.14
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ceruloplasmin
Multifunctional 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 (PubMed:16150804). Copper ions provide a large number of enzymatic activites. Oxidizes highly toxic ferrous ions to the ferric state for further incorporation onto apo-transferrins, catalyzes Cu(+) oxidation and promotes the oxidation of biogenic amines such as norepinephrin and serotonin (PubMed:14623105, PubMed:4643313, PubMed:5912351). Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1 (By similarity). Has glutathione peroxidase-like activity, can remove both hydrogen peroxide and lipid hydroperoxide in the presence of thiols (PubMed:10481051). Acts as an inhibitor of the peroxidase activity of MPO (By similarity). Also shows NO-oxidase and NO2 synthase activities that determine endocrine NO homeostasis (PubMed:16906150)
Diseases associated with CP
Curated MONDO disease pages that list CP among their top associated genes.