Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1356
Gene name Gene Name - the full gene name approved by the HGNC.
Ceruloplasmin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CP
Synonyms (NCBI Gene) Gene synonyms aliases
AB073614, CP-2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q24-q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 accumulati
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34386552 G>A Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs34394958 A>C,G Benign-likely-benign, likely-benign, pathogenic, benign Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs34987997 T>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs56033670 G>C Conflicting-interpretations-of-pathogenicity, benign Non coding transcript variant, coding sequence variant, missense variant
rs121909579 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT735517 hsa-miR-145-5p Immunohistochemistry (IHC), RNA-seq, qRT-PCR 32708433
MIRT905614 hsa-miR-23a CLIP-seq
MIRT905615 hsa-miR-23b CLIP-seq
MIRT905616 hsa-miR-23c CLIP-seq
MIRT1968537 hsa-miR-409-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004322 Function Ferroxidase activity IDA 14623105
GO:0004322 Function Ferroxidase activity IEA
GO:0004322 Function Ferroxidase activity IMP 16150804, 29183916
GO:0004322 Function Ferroxidase activity TAS 7708681
GO:0004602 Function Glutathione peroxidase activity IDA 10481051, 10508415
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
117700 2295 ENSG00000047457
Protein
UniProt ID P00450
Protein name Ceruloplasmin (Cuproxidase ceruloplasmin) (EC 1.16.3.4) (Ferroxidase ceruloplasmin) (EC 1.16.3.1) (Glutathione peroxidase ceruloplasmin) (EC 1.11.1.9) (Glutathione-dependent peroxiredoxin ceruloplasmin) (EC 1.11.1.27)
Protein function 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:161508
PDB 1KCW , 2J5W , 4EJX , 4ENZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07732 Cu-oxidase_3 74 204 Multicopper oxidase Domain
PF00394 Cu-oxidase 221 358 Multicopper oxidase Domain
PF07732 Cu-oxidase_3 801 903 Multicopper oxidase Domain
PF07731 Cu-oxidase_2 937 1060 Multicopper oxidase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000305|PubMed:12055353}.
Sequence
MKILILGIFLFLCSTPAWAKEKHYYIGIIETTWDYASDHGEKKLISVDTEHSNIYLQNGP
DRIGRLYKKALYLQYTDETFRTTIEKPVWLGFLGPIIKAETGDKVYVHLKNLASRPYTFH
SHGITYYKEHEGAIYPDNTTDFQRADDKVYPGEQYTYMLLATEEQSPGEGDGNCVTRIYH
SHIDAPKDIASGLIGPLIICKKDS
LDKEKEKHIDREFVVMFSVVDENFSWYLEDNIKTYC
SEPEKVDKDNEDFQESNRMYSVNGYTFGSLPGLSMCAEDRVKWYLFGMGNEVDVHAAFFH
GQALTNKNYRIDTINLFPATLFDAYMVAQNPGEWMLSCQNLNHLKAGLQAFFQVQECN
KS
SSKDNIRGKHVRHYYIAAEEIIWNYAPSGIDIFTKENLTAPGSDSAVFFEQGTTRIGGSY
KKLVYREYTDASFTNRKERGPEEEHLGILGPVIWAEVGDTIRVTFHNKGAYPLSIEPIGV
RFNKNNEGTYYSPNYNPQSRSVPPSASHVAPTETFTYEWTVPKEVGPTNADPVCLAKMYY
SAVDPTKDIFTGLIGPMKICKKGSLHANGRQKDVDKEFYLFPTVFDENESLLLEDNIRMF
TTAPDQVDKEDEDFQESNKMHSMNGFMYGNQPGLTMCKGDSVVWYLFSAGNEADVHGIYF
SGNTYLWRGERRDTANLFPQTSLTLHMWPDTEGTFNVECLTTDHYTGGMKQKYTVNQCRR
QSEDSTFYLGERTYYIAAVEVEWDYSPQREWEKELHHLQEQNVSNAFLDKGEFYIGSKYK
KVVYRQYTDSTFRVPVERKAEEEHLGILGPQLHADVGDKVKIIFKNMATRPYSIHAHGVQ
TESSTVTPTLPGETLTYVWKIPERSGAGTEDSACIPWAYYSTVDQVKDLYSGLIGPLIVC
RRP
YLKVFNPRRKLEFALLFLVFDENESWYLDDNIKTYSDHPEKVNKDDEEFIESNKMHA
INGRMFGNLQGLTMHVGDEVNWYLMGMGNEIDLHTVHFHGHSFQYKHRGVYSSDVFDIFP
GTYQTLEMFPRTPGIWLLHCHVTDHIHAGMETTYTVLQNE
DTKSG
Sequence length 1065
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Porphyrin metabolism
Ferroptosis
  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Metal ion SLC transporters
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
Defective CP causes aceruloplasminemia (ACERULOP)
Post-translational protein phosphorylation
Iron uptake and transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation rs776936158, rs1135401784, rs386134127, rs386134147 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Multiple Associate 30170966
Acute Coronary Syndrome Associate 22075249, 24311705
Adenocarcinoma of Lung Associate 32708433
Aggressive Periodontitis Associate 19656030
Alcohol Related Disorders Associate 24799124
Alzheimer Disease Associate 11283204, 16272261, 20796026, 24366863, 32087292
Anemia Associate 12200392, 32235485
Anemia Hemolytic Associate 15082597, 32264837
Ascites Associate 27500424, 39337685
Atrial Fibrillation Associate 24118451, 28427851