Gene Gene information from NCBI Gene database.
Entrez ID 1356
Gene name Ceruloplasmin
Gene symbol CP
Synonyms (NCBI Gene)
AB073614CP-2
Chromosome 3
Chromosome location 3q24-q25.1
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 accumulati
SNPs SNP information provided by dbSNP.
63
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.
26
miRTarBase ID miRNA Experiments Reference
MIRT735517 hsa-miR-145-5p Immunohistochemistry (IHC)RNA-seqqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
117700 2295 ENSG00000047457
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
572
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CP-related disorder Likely pathogenic; Pathogenic rs1361931808, rs1257565717, rs2472840199, rs762368526, rs386134147 RCV003399562
RCV003402142
RCV003405876
RCV004747403
RCV003894849
Deficiency of ferroxidase Pathogenic; Likely pathogenic rs1727369694, rs2108301637, rs1406530488, rs587780321, rs2108244261, rs772867888, rs2108230432, rs779026502, rs2472773829, rs1257565717, rs2472761454, rs2472840538, rs2472762265, rs752232577, rs762368526
View all (49 more)
RCV001383313
RCV001383523
RCV001780576
RCV005031613
RCV002007364
RCV001994711
RCV001914980
RCV002664323
RCV002770194
RCV003778218
RCV003631901
RCV003632234
RCV003632766
RCV003632931
RCV003877644
RCV003985033
RCV000019114
RCV000019116
RCV000019118
RCV000019120
RCV000019122
RCV000504529
RCV001856906
RCV000496109
RCV000496150
RCV000584745
RCV000584751
RCV000584747
RCV000584748
RCV000809524
RCV000034876
RCV000034879
RCV000034880
RCV000034881
RCV000034888
RCV000034946
RCV000034947
RCV000034948
RCV000034949
RCV000034951
RCV000034953
RCV000034957
RCV000034958
RCV000034960
RCV000034962
RCV000034966
RCV000034968
RCV000034970
RCV000034971
RCV000034974
RCV000034977
RCV000034978
RCV000034979
RCV000034980
RCV000034981
RCV000034982
RCV000034983
RCV000034995
RCV000035000
RCV000638592
RCV000707198
RCV000697053
RCV000799580
RCV000801055
RCV001224634
Neurodegeneration with brain iron accumulation Likely pathogenic; Pathogenic rs587780321, rs776936158, rs1135401784, rs750451693, rs386134127, rs386134147 RCV004586553
RCV005055965
RCV003226310
RCV005431812
RCV005237457
RCV002509184
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs35593818 RCV005895669
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs561633350, rs35593818, rs35465173, rs375191868 RCV005867107
RCV005895672
RCV005897625
RCV005913903
Cholangiocarcinoma Benign; Likely benign rs561633350, rs17787768, rs34861155, rs35593818 RCV005867109
RCV005918779
RCV005889763
RCV005895676
Colorectal cancer Conflicting classifications of pathogenicity rs375191868 RCV005913904
Associations from Text MiningDisease 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