RBCC Red Blood Cell Collection

CERU_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CP
Protein names and data: CERU_HUMAN , Ceruloplasmin; 1.16.3.1 , Ferroxidase; Flags: Precursor Lenght: 1065 a.a.
Mass: 122205 Da
fasta formatted sequence
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.
Disease: ( OMIM: 117700 604290 ) Aceruloplasminemia (ACERULOP) [MIM:604290]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.
Cellular location: Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments (By similarity).
Tissue specificity: Expressed by the liver and secreted in plasma.

Genetic variants

63 - 63 I -> T (retained in the ER due to impaired N-glycosylation; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease). VAR_025655
367 - 367 R -> C (in dbSNP:rs34624984). VAR_032815 34624984
477 - 477 P -> L (in dbSNP:rs35331711). VAR_025656 35331711
544 - 544 D -> E (reduced ferroxidase activity; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease; dbSNP:rs701753). VAR_025657 701753
551 - 551 T -> I. VAR_025658
793 - 793 R -> H. VAR_025659
841 - 841 T -> R (in dbSNP:rs56033670). VAR_025660 56033670

Database cross-references

UniProt: P00450
Ensembl: ENST00000264613
MIM: 117700
MIM: 604290
neXtProt: NX_P00450
Antibodypedia: P00450 (may not find the protein thus also not any antibody)
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